PILRA polymorphism modifies the effect of APOE4 and GM17 on Alzheimer's disease risk.
PMID:35918447
Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders.
PMID:35915177
Patterns of Convergence and Divergence Between Bipolar Disorder Type I and Type II: Evidence From Integrative Genomic Analyses.
PMID:35912095
Low α2-Plasmin Inhibitor Antigen Levels on Admission Are Associated With More Severe Stroke and Unfavorable Outcomes in Acute Ischemic Stroke Patients Treated With Intravenous Thrombolysis.
PMID:35911531
Genome-Wide Association Study of COVID-19 Outcomes Reveals Novel Host Genetic Risk Loci in the Serbian Population.
PMID:35910207
Multivariate genome-wide association study of depression, cognition, and memory phenotypes and validation analysis identify 12 cross-ethnic variants.
PMID:35907915
fcfdr: an R package to leverage continuous and binary functional genomic data in GWAS.
PMID:35907789
X-CAP improves pathogenicity prediction of stopgain variants.
PMID:35906703
Landscape of Variability in Chemosensory Genes Associated With Dietary Preferences in Indian Population: Analysis of 1029 Indian Genomes.
PMID:35903357
ClinPharmSeq: A targeted sequencing panel for clinical pharmacogenetics implementation.
PMID:35901010
Cancer-Associated Mutations of the Adenosine A2A Receptor Have Diverse Influences on Ligand Binding and Receptor Functions.
PMID:35897852
Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation.
PMID:35897697
Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.
PMID:35896530
State of the Art for Microhaplotypes.
PMID:35893059
NGS allele counts versus called genotypes for testing genetic association.
PMID:35891781
Crosstalk between Host Genome and Metabolome among People with HIV in South Africa.
PMID:35888748
WARE: Wet AMD Risk-Evaluation Tool as a Clinical Decision-Support System Integrating Genetic and Non-Genetic Factors.
PMID:35887531
Proteomic Biomarkers of the Apnea Hypopnea Index and Obstructive Sleep Apnea: Insights into the Pathophysiology of Presence, Severity, and Treatment Response.
PMID:35887329
Large-Scale Multi-Omics Studies Provide New Insights into Blood Pressure Regulation.
PMID:35886906
Multi-Cell-Type Openness-Weighted Association Studies for Trait-Associated Genomic Segments Prioritization.
PMID:35886003
GALNT2 rs4846914 SNP Is Associated with Obesity, Atherogenic Lipid Traits, and ANGPTL3 Plasma Level.
PMID:35885984
Dynamic Features of Chromosomal Instability during Culture of Induced Pluripotent Stem Cells.
PMID:35885940
Gene-Environment Correlation over Time: A Longitudinal Analysis of Polygenic Risk Scores for Schizophrenia and Major Depression in Three British Cohorts Studies.
PMID:35885920
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
PMID:35884425
LncRNA-Associated Genetic Etiologies Are Shared between Type 2 Diabetes and Cancers in the UAE Population.
PMID:35884374
PHARP: a pig haplotype reference panel for genotype imputation.
PMID:35879321
Using population-scale transcriptomic and genomic data to map 3' UTR alternative polyadenylation quantitative trait loci.
PMID:35874472
SNP-to-gene linking strategies reveal contributions of enhancer-related and candidate master-regulator genes to autoimmune disease.
PMID:35873673
Higher native Peruvian genetic ancestry proportion is associated with tuberculosis progression risk.
PMID:35873671
Comparison of Methods Utilizing Sex-Specific PRSs Derived From GWAS Summary Statistics.
PMID:35873490
Identification of human mitochondrial RNA cleavage sites and candidate RNA processing factors.
PMID:35869520
Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness.
PMID:35869121
Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.
PMID:35865963
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.
PMID:35864542
Genetic evidence of tri-genealogy hypothesis on the origin of ethnic minorities in Yunnan.
PMID:35864541
Evaluating the role of common risk variation in the recurrence risk of schizophrenia in multiplex schizophrenia families.
PMID:35864105
The sequences of 150,119 genomes in the UK Biobank.
PMID:35859178
Generalizing Bayesian phylogenetics to infer shared evolutionary events.
PMID:35858351
Genetic variation that determines TAPBP expression levels associates with the course of malaria in an HLA allotype-dependent manner.
PMID:35858344
Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia.
PMID:35854323
TGFBR1*6A as a modifier of breast cancer risk and progression: advances and future prospects.
PMID:35853889
Implicating Causal Brain Magnetic Resonance Imaging in Glaucoma Using Mendelian Randomization.
PMID:35847794
Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.
PMID:35846994
The Location of Missense Variants in the Human GIP Gene Is Indicative for Natural Selection.
PMID:35846282
Exploring the Effects of Mitonuclear Interactions on Mitochondrial DNA Gene Expression in Humans.
PMID:35846132
Evaluating the Impact of Dropout and Genotyping Error on SNP-Based Kinship Analysis With Forensic Samples.
PMID:35846115
A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report.
PMID:35840956
Estimating the timing of multiple admixture events using 3-locus linkage disequilibrium.
PMID:35839249
Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions.
PMID:35835769
Construction and Application of Polygenic Risk Scores in Autoimmune Diseases.
PMID:35833142
Genetic variations in methotrexate metabolic pathway genes influence methotrexate responses in rheumatoid arthritis patients in Malaysia.
PMID:35831345
No replication of previously reported association with genetic variants in the T cell receptor alpha (TRA) locus for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS).
PMID:35821115
The evolutionary history of human spindle genes includes back-and-forth gene flow with Neandertals.
PMID:35816093
Multivariate GWAS of psychiatric disorders and their cardinal symptoms reveal two dimensions of cross-cutting genetic liabilities.
PMID:35812988
WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation.
PMID:35808830
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
PMID:35803923
Valuing the Diversity of Research Methods to Advance Nutrition Science.
PMID:35802522
Validation of a multi-ancestry polygenic risk score and age-specific risks of prostate cancer: A meta-analysis within diverse populations.
PMID:35801699
Differences in actionable genomic alterations between brain metastases and non‑brain metastases in patients with non‑small cell lung cancer.
PMID:35796015
Comparison of chromatin accessibility landscapes during early development of prefrontal cortex between rhesus macaque and human.
PMID:35794099
Quality control of large genome datasets.
PMID:35789587
A locus at 19q13.31 significantly reduces the ApoE ε4 risk for Alzheimer's Disease in African Ancestry.
PMID:35788729
Genome-wide detection of imprinted differentially methylated regions using nanopore sequencing.
PMID:35787786
First genome-wide association study of 99 body measures derived from 3-dimensional body scans.
PMID:35782980
The clinically relevant CYP2C8*3 and CYP2C9*2 haplotype is inherited from Neandertals.
PMID:35780191
chromMAGMA: regulatory element-centric interrogation of risk variants.
PMID:35777959
Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots.
PMID:35773277
Effects of genetic ancestry and socioeconomic deprivation on ethnic differences in serum creatinine.
PMID:35772650
Improving Genomic Selection for Heat Tolerance in Dairy Cattle: Current Opportunities and Future Directions.
PMID:35769985
A genome-wide association study of bronchodilator response in participants of European and African ancestry from six independent cohorts.
PMID:35769418
A Genome-Wide Association Study of Prediabetes Status Change.
PMID:35769078
The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.
PMID:35768438
Evaluation of Genetic Kidney Diseases in Living Donor Kidney Transplantation: Towards Precision Genomic Medicine in Donor Risk Assessment.
PMID:35765363
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations.
PMID:35765100
Genotype imputation and polygenic score estimation in northwestern Russian population.
PMID:35763490
Genetic prediction of impulse control disorders in Parkinson's disease.
PMID:35762106
Genetically Predicted Serum Albumin and Risk of Colorectal Cancer: A Bidirectional Mendelian Randomization Study.
PMID:35761866
Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank.
PMID:35761239
PolarMorphism enables discovery of shared genetic variants across multiple traits from GWAS summary statistics.
PMID:35758773
Oxytocin and vasotocin receptor variation and the evolution of human prosociality.
PMID:35757177
Pharmacogenetics of Praziquantel Metabolism: Evaluating the Cytochrome P450 Genes of Zimbabwean Patients During a Schistosomiasis Treatment.
PMID:35754834
Genome-wide association study for circulating FGF21 in patients with alcohol use disorder: Molecular links between the SNHG16 locus and catecholamine metabolism.
PMID:35752286
The association of obesity-related traits on COVID-19 severity and hospitalization is affected by socio-economic status: a multivariable Mendelian randomization study.
PMID:35751636
Moment estimators of relatedness from low-depth whole-genome sequencing data.
PMID:35751014
Integrating variant functional annotation scores have varied abilities to improve power of genome-wide association studies.
PMID:35750789
Cholesterol and matrisome pathways dysregulated in astrocytes and microglia.
PMID:35750033
Microbiome-associated human genetic variants impact phenome-wide disease risk.
PMID:35749358
Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome.
PMID:35743717
Investigation of Dombrock Blood Group Alleles and Genotypes among Saudi Blood Donors in Southwestern Saudi Arabia.
PMID:35741842
Genetic and Epigenetic Association of Hepatocyte Nuclear Factor-1α with Glycosylation in Post-Traumatic Stress Disorder.
PMID:35741825
Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.
PMID:35741818
Bioinformatic Prioritization and Functional Annotation of GWAS-Based Candidate Genes for Primary Open-Angle Glaucoma.
PMID:35741817
Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia.
PMID:35741704
A Robust Assay to Monitor Ataxin-3 Amyloid Fibril Assembly.
PMID:35741099
Association between Vitamin D Receptor Gene Polymorphisms and Periodontal Bacteria: A Clinical Pilot Study.
PMID:35740958
Genomic Aberrations in Circulating Tumor DNAs from Palbociclib-Treated Metastatic Breast Cancer Patients Reveal a Novel Resistance Mechanism.
PMID:35740538
Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study.
PMID:35739433
Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia.
PMID:35739278
Reconstructing the history of founder events using genome-wide patterns of allele sharing across individuals.
PMID:35737729
Local fitness and epistatic effects lead to distinct patterns of linkage disequilibrium in protein-coding genes.
PMID:35736370
Integrative transcriptome-wide analysis of atopic dermatitis for drug repositioning.
PMID:35729261
Contribution and clinical relevance of germline variation to the cancer transcriptome.
PMID:35725412
Single Circulating-Tumor-Cell-Targeted Sequencing to Identify Somatic Variants in Liquid Biopsies in Non-Small-Cell Lung Cancer Patients.
PMID:35723337
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.
PMID:35720974
Protein Network Analysis of Whole Exome Sequencing of Severe Preeclampsia.
PMID:35719905
Investigation of target sequencing of SARS-CoV-2 and immunogenic GWAS profiling in host cells of COVID-19 in Vietnam.
PMID:35718768
Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits.
PMID:35716666
Leveraging the local genetic structure for trans-ancestry association mapping.
PMID:35714612
Impact of a NDUFC2 Variant on the Occurrence of Acute Coronary Syndromes.
PMID:35711349
Genome-wide polygenic score to predict chronic kidney disease across ancestries.
PMID:35710995
Screening of the TMEM151A Gene in Patients With Paroxysmal Kinesigenic Dyskinesia and Other Movement Disorders.
PMID:35707035
Association of IL-1B rs16944 Polymorphism With Acute Encephalopathy With Biphasic Seizures and Late Reduced Diffusion Is Opposite to That of Febrile Seizures.
PMID:35707033
TSABL: Trait Specific Annotation Based Locus predictor.
PMID:35705896
Placental sex-dependent spermine synthesis regulates trophoblast gene expression through acetyl-coA metabolism and histone acetylation.
PMID:35705689
Mendelian randomization analysis of 37 clinical factors and coronary artery disease in East Asian and European populations.
PMID:35698167
Genetic analysis of right heart structure and function in 40,000 people.
PMID:35697867
Polishing copy number variant calls on exome sequencing data via deep learning.
PMID:35697522
Revealing the recent demographic history of Europe via haplotype sharing in the UK Biobank.
PMID:35696575
Genomic architecture and functional effects of potential human inversion supergenes.
PMID:35694745
DNA methylation patterns reflect individual's lifestyle independent of obesity.
PMID:35692099
Genetic Association Analysis of Anti-VEGF Treatment Response in Neovascular Age-Related Macular Degeneration.
PMID:35682771
A statistical perspective on baseline adjustment in pharmacogenomic genome-wide association studies of quantitative change.
PMID:35680959
Robust and accurate estimation of paralog-specific copy number for duplicated genes using whole-genome sequencing.
PMID:35680869
The Search for Cancer Biomarkers: Assessing the Distribution of INDEL Markers in Different Genetic Ancestries.
PMID:35678683
Telomere Length and COVID-19 Outcomes: A Two-Sample Bidirectional Mendelian Randomization Study.
PMID:35677559
Graph pangenome captures missing heritability and empowers tomato breeding.
PMID:35676474
Allelic expression imbalance of PIK3CA mutations is frequent in breast cancer and prognostically significant.
PMID:35676284
The 3D mutational constraint on amino acid sites in the human proteome.
PMID:35672414
Single-cell RNA-sequencing of peripheral blood mononuclear cells reveals widespread, context-specific gene expression regulation upon pathogenic exposure.
PMID:35672358
Integrating 3D genomic and epigenomic data to enhance target gene discovery and drug repurposing in transcriptome-wide association studies.
PMID:35672318
Regulation of HLA class I expression by non-coding gene variations.
PMID:35666741
Quantifying concordant genetic effects of de novo mutations on multiple disorders.
PMID:35666111
Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review.
PMID:35664296
SHROOM4 Variants Are Associated With X-Linked Epilepsy With Features of Generalized Seizures or Generalized Discharges.
PMID:35663265
Humanized yeast to model human biology, disease and evolution.
PMID:35661208
Modeling hypertrophic cardiomyopathy with human cardiomyocytes derived from induced pluripotent stem cells.
PMID:35659761
Antagonistic regulatory effects of a single cis-acting expression quantitative trait locus between transcription and translation of the MRPL43 gene.
PMID:35659240
Additive genetic effect of GCKR, G6PC2, and SLC30A8 variants on fasting glucose levels and risk of type 2 diabetes.
PMID:35657990
Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes.
PMID:35656234
MHC class II molecules on pancreatic cancer cells indicate a potential for neo-antigen-based immunotherapy.
PMID:35655709
Genome-wide association analysis and replication in 810,625 individuals with varicose veins.
PMID:35654884
Estimating tumor mutational burden from RNA-sequencing without a matched-normal sample.
PMID:35654823
A new test suggests hundreds of amino acid polymorphisms in humans are subject to balancing selection.
PMID:35653351
A multi-population phenome-wide association study of genetically-predicted height in the Million Veteran Program.
PMID:35653334
Association Study Between Polymorphic Loci in Cholesterol Metabolism Pathway and Gallstone in the Tibetan Population.
PMID:35651949
A penalized linear mixed model with generalized method of moments for prediction analysis on high-dimensional multi-omics data.
PMID:35649346
Multivariate statistical approach and machine learning for the evaluation of biogeographical ancestry inference in the forensic field.
PMID:35643723
How inclusive are cell lines in preclinical engineered cancer models?
PMID:35642685
How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?
PMID:35641994
Annotation Query (AnnoQ): an integrated and interactive platform for large-scale genetic variant annotation.
PMID:35640593
Major sex differences in allele frequencies for X chromosomal variants in both the 1000 Genomes Project and gnomAD.
PMID:35639794
A spectrum of free software tools for processing the VCF variant call format: vcflib, bio-vcf, cyvcf2, hts-nim and slivar.
PMID:35639788
PCGA: a comprehensive web server for phenotype-cell-gene association analysis.
PMID:35639771
FABIAN-variant: predicting the effects of DNA variants on transcription factor binding.
PMID:35639768
PHACT: Phylogeny-Aware Computing of Tolerance for Missense Mutations.
PMID:35639618
Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease.
PMID:35639372
Connectivity in eQTL networks dictates reproducibility and genomic properties.
PMID:35637906
The spatiotemporal patterns of major human admixture events during the European Holocene.
PMID:35635751
Extensive simulations assess the performance of genome-wide association mapping in various Saccharomyces cerevisiae subpopulations.
PMID:35634920
Feasibility and application of polygenic score analysis to the morphology of human-induced pluripotent stem cells.
PMID:35633379
Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights.
PMID:35629091
Searching for New Genetic Biomarkers of Axial Spondyloarthritis.
PMID:35629038
A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing.
PMID:35627305
Early Assessment of Chemotherapy Response in Advanced Non-Small Cell Lung Cancer with Circulating Tumor DNA.
PMID:35626082
Identification of a Germline Pyrin Variant in a Metastatic Melanoma Patient With Multiple Spontaneous Regressions and Immune-related Adverse Events.
PMID:35621992
Genetic Architecture of Plasma Alpha-Aminoadipic Acid Reveals a Relationship With High-Density Lipoprotein Cholesterol.
PMID:35621206
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation.
PMID:35618845
A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene.
PMID:35618777
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
PMID:35618720
TextFormats: Simplifying the definition and parsing of text formats in bioinformatics.
PMID:35617194
Defining mitochondrial protein functions through deep multiomic profiling.
PMID:35614220
Germline mutations in Chinese ovarian cancer with or without breast cancer.
PMID:35608067
Phenotypic and genetic associations of quantitative magnetic susceptibility in UK Biobank brain imaging.
PMID:35606419
Genetically regulated gene expression and proteins revealed discordant effects.
PMID:35604899
Using the UK Biobank as a global reference of worldwide populations: application to measuring ancestry diversity from GWAS summary statistics.
PMID:35604078
Associations between Suicidal Thoughts and Behaviors and Genetic Liability for Cognitive Performance, Depression, and Risk-Taking in a High-Risk Sample.
PMID:35592092
Genome-wide risk prediction of common diseases across ancestries in one million people.
PMID:35591975
Functional genomic analysis delineates regulatory mechanisms of GWAS-identified bipolar disorder risk variants.
PMID:35590387
Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach.
PMID:35590255
Evaluation of cfDNA as an early detection assay for dense tissue breast cancer.
PMID:35589867
Ancient Maltese genomes and the genetic geography of Neolithic Europe.
PMID:35588742
Genetic differentiation in East African ethnicities and its relationship with endurance running success.
PMID:35588128
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.
PMID:35587511
The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis.
PMID:35586190
Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection.
PMID:35580180
Fast and accurate estimation of multidimensional site frequency spectra from low-coverage high-throughput sequencing data.
PMID:35579549
Population Genetics and Signatures of Selection in Early Neolithic European Farmers.
PMID:35578825
Apolipoprotein L1 High-Risk Genotypes and Albuminuria in Sub-Saharan African Populations.
PMID:35577564
Annotating functional effects of non-coding variants in neuropsychiatric cell types by deep transfer learning.
PMID:35576194
Epigenetic and transcriptional dysregulation in CD4+ T cells in patients with atopic dermatitis.
PMID:35576187
Improving polygenic prediction with genetically inferred ancestry.
PMID:35571679
The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies.
PMID:35562925
Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer.
PMID:35562597
Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing.
PMID:35562572
Natural LILRB1 D1-D2 variants show frequency differences in populations and bind to HLA class I with various avidities.
PMID:35562487
The genomic origins of the world's first farmers.
PMID:35561686
Deep learning identifies and quantifies recombination hotspot determinants.
PMID:35561158
Shared genetic loci between depression and cardiometabolic traits.
PMID:35560157
Recombination affects allele-specific expression of deleterious variants in human populations.
PMID:35559670
A hominoid-specific endogenous retrovirus may have rewired the gene regulatory network shared between primordial germ cells and naïve pluripotent cells.
PMID:35551519
TMC-SNPdb 2.0: an ethnic-specific database of Indian germline variants.
PMID:35551364
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.
PMID:35551307
Pathway-Based Analysis Revealed the Role of Keap1-Nrf2 Pathway and PI3K-Akt Pathway in Chinese Esophageal Squamous Cell Carcinoma Patients With Definitive Chemoradiotherapy.
PMID:35548450
Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits.
PMID:35546142
Prioritization of risk genes in multiple sclerosis by a refined Bayesian framework followed by tissue-specificity and cell type feature assessment.
PMID:35545758
Human genetic factors associated with pneumonia risk, a cue for COVID-19 susceptibility.
PMID:35545162
Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial.
PMID:35543701
Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects.
PMID:35534559
Complex fitness landscape shapes variation in a hyperpolymorphic species.
PMID:35532122
Response to Wyckelsma et al.: Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation.
PMID:35523147
Powerful eQTL mapping through low-coverage RNA sequencing.
PMID:35519825
Improving polygenic prediction in ancestrally diverse populations.
PMID:35513724
Distribution of TAS2R38 bitter taste receptor phenotype and haplotypes among COVID-19 patients.
PMID:35513681
Germline predisposition to pediatric Ewing sarcoma is characterized by inherited pathogenic variants in DNA damage repair genes.
PMID:35512711
SNPs at SMG7 Associated with Time from Biochemical Recurrence to Prostate Cancer Death.
PMID:35511739
Demographic history differences between Hispanics and Brazilians imprint haplotype features.
PMID:35511163
Genomes from Verteba cave suggest diversity within the Trypillians in Ukraine.
PMID:35508651
North Asian population relationships in a global context.
PMID:35508562
Meta-imputation: An efficient method to combine genotype data after imputation with multiple reference panels.
PMID:35508176
Topologically associating domains are disrupted by evolutionary genome rearrangements forming species-specific enhancer connections in mice and humans.
PMID:35508135
TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data.
PMID:35504290
Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies.
PMID:35501419
The Prevalence of Pharmacogenomics Variants and Their Clinical Relevance Among the Pakistani Population.
PMID:35497687
Detecting archaic introgression and modeling multiple-wave admixture with ArchaicSeeker 2.0.
PMID:35496797
Single Nucleotide Variants as Proxies for HLA-A*31:01 in Native American Populations.
PMID:35496269
Does Follicle-Stimulating Hormone Receptor Polymorphism Status Affect In vitro Fertilization-Intracytoplasmic Sperm Injection Results and Live Birth Rate? A Retrospective Study.
PMID:35494202
Advances and challenges in quantitative delineation of the genetic architecture of complex traits.
PMID:35492964
Genome interpretation using in silico predictors of variant impact.
PMID:35488922
Classification of non-coding variants with high pathogenic impact.
PMID:35486646
A complete pedigree-based graph workflow for rare candidate variant analysis.
PMID:35483961
Computational and experimental methods for classifying variants of unknown clinical significance.
PMID:35483875
A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program.
PMID:35482673
An empirical evaluation of genotype imputation of ancient DNA.
PMID:35482488
Mutation spectrum of congenital heart disease in a consanguineous Turkish population.
PMID:35481623
Markers of kidney function, genetic variation related to cognitive function, and cognitive performance in the UK Biobank.
PMID:35477353
Shared components of heritability across genetically correlated traits.
PMID:35477001
PDXNet portal: patient-derived Xenograft model, data, workflow and tool discovery.
PMID:35475145
Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report.
PMID:35463132
Bioinformatic Challenges Detecting Genetic Variation in Precision Medicine Programs.
PMID:35463004
Interferon-induced transmembrane protein 3 gene polymorphisms are associated with COVID-19 susceptibility and severity: A meta-analysis.
PMID:35461906
Analysis of GWAS-nominated loci for lung cancer and COPD revealed a new asthma locus.
PMID:35461280
Powerful and robust inference of complex phenotypes' causal genes with dependent expression quantitative loci by a median-based Mendelian randomization.
PMID:35460606
Disentangling Signatures of Selection Before and After European Colonization in Latin Americans.
PMID:35460423
Genetic analysis of over half a million people characterises C-reactive protein loci.
PMID:35459240
Molecular Evolutionary Rate Predicts Intraspecific Genetic Polymorphism and Species-Specific Selection.
PMID:35456514
Rare and Common Variants Uncover the Role of the Atria in Coarctation of the Aorta.
PMID:35456442
Pharmacogenetic Profiling in High-Risk Soft Tissue Sarcomas Treated with Neoadjuvant Chemotherapy.
PMID:35455734
Antidepressant Treatment and Manic Switch in Bipolar I Disorder: A Clinical and Molecular Genetic Study.
PMID:35455731
Genetic diversity of the melanocortin-1 receptor in an admixed population of Rio de Janeiro: Structural and functional impacts of Cys35Tyr variant.
PMID:35452484
Estimating bonobo (Pan paniscus) and chimpanzee (Pan troglodytes) evolutionary history from nucleotide site patterns.
PMID:35452306
Serotonin G Protein-Coupled Receptor-Based Biosensing Modalities in Yeast.
PMID:35452231
Association between an AMH promoter polymorphism and serum AMH levels in PCOS patients.
PMID:35451015
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
PMID:35449147
Genetic variability in exon 1 of the glucocorticoid receptor gene NR3C1 is associated with postoperative complications.
PMID:35445734
Ethnic Diversity and Warfarin Pharmacogenomics.
PMID:35444556
Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.
PMID:35442417
GM-CSF disruption in CART cells modulates T cell activation and enhances CART cell anti-tumor activity.
PMID:35440691
A leukemia-protective germline variant mediates chromatin module formation via transcription factor nucleation.
PMID:35440565
Identifying molecular mediators of the relationship between body mass index and endometrial cancer risk: a Mendelian randomization analysis.
PMID:35436960
Genome-Wide Interaction Study of Late-Onset Asthma With Seven Environmental Factors Using a Structured Linear Mixed Model in Europeans.
PMID:35432474
How HLA diversity is apportioned: influence of selection and relevance to transplantation.
PMID:35430892
The background and legacy of Lewontin's apportionment of human genetic diversity.
PMID:35430890
Polygenic risk, population structure and ongoing difficulties with race in human genetics.
PMID:35430888
A geometric relationship of F2, F3 and F4-statistics with principal component analysis.
PMID:35430884
Apportioning archaic variants among modern populations.
PMID:35430882
Human genetic admixture through the lens of population genomics.
PMID:35430881
The genetic legacy of the Manila galleon trade in Mexico.
PMID:35430879
Rhesus negative males have an enhanced IFNγ-mediated immune response to influenza A virus.
PMID:35428875
Variation in targetable genomic alterations in non-small cell lung cancer by genetic ancestry, sex, smoking history, and histology.
PMID:35428358
Causal Association Between Tea Consumption and Kidney Function: A Mendelian Randomization Study.
PMID:35425787
Genome-Wide Association Study of Campylobacter-Positive Diarrhea Identifies Genes Involved in Toxin Processing and Inflammatory Response.
PMID:35420468
Evolutionary Trajectories of Complex Traits in European Populations of Modern Humans.
PMID:35419030
Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women.
PMID:35418701
Using deep learning to predict abdominal age from liver and pancreas magnetic resonance images.
PMID:35418184
Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease.
PMID:35414959
A conditional gene-based association framework integrating isoform-level eQTL data reveals new susceptibility genes for schizophrenia.
PMID:35412455
Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database.
PMID:35411390
Tumor Necrosis Factor-α Gene Polymorphism is Associated with Short- and Long-Term Kidney Allograft Outcomes.
PMID:35411171
Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes.
PMID:35410384
Effect of a Digitally-Enabled, Preventive Health Program on Blood Pressure in an Adult, Dutch General Population Cohort: An Observational Pilot Study.
PMID:35409854
shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele.
PMID:35409410
Germline Variants in Cancer Genes from Young Breast Cancer Mexican Patients.
PMID:35406420
A spatially aware likelihood test to detect sweeps from haplotype distributions.
PMID:35404934
An overview of SNP-SNP microhaplotypes in the 26 populations of the 1000 Genomes Project.
PMID:35397682
Critical Assessment of Metagenome Interpretation: the second round of challenges.
PMID:35396482
Positive associations between cannabis and alcohol use polygenic risk scores and phenotypic opioid misuse among African-Americans.
PMID:35395044
Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores.
PMID:35393596
Donor and recipient polygenic risk scores influence the risk of post-transplant diabetes.
PMID:35393535
Identification of genetic effects underlying type 2 diabetes in South Asian and European populations.
PMID:35393509
RGMQL: scalable and interoperable computing of heterogeneous omics big data and metadata in R/Bioconductor.
PMID:35392801
Exome and Tissue-Associated Microbiota as Predictive Markers of Response to Neoadjuvant Treatment in Locally Advanced Rectal Cancer.
PMID:35392220
CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago.
PMID:35391798
An Evolutionary Insight Into the Heterogeneous Severity Pattern of the SARS-CoV-2 Infection.
PMID:35391792
An integrative skeletal and paleogenomic analysis of stature variation suggests relatively reduced health for early European farmers.
PMID:35389750
Association of TMPRSS2 Gene Polymorphisms with COVID-19 Severity and Mortality: a Case-Control Study with Computational Analyses.
PMID:35386063
Analysis of the genomic landscapes of Barbadian and Nigerian women with triple negative breast cancer.
PMID:35384527
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
PMID:35379994
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
PMID:35379322
The contribution of evolutionarily volatile promoters to molecular phenotypes and human trait variation.
PMID:35379293
OGDHL Variant rs2293239: A Potential Genetic Driver of Chinese Familial Depressive Disorder.
PMID:35370858
Ancient genomes reveal origin and rapid trans-Eurasian migration of 7th century Avar elites.
PMID:35366416
Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses.
PMID:35365635
The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.
PMID:35365203
Heteroplasmic mitochondrial DNA variants in cardiovascular diseases.
PMID:35363781
Rheumatoid arthritis in a patient with compound heterozygous variants in the COL11A2 gene and progressive hearing loss: A case report.
PMID:35363175
Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.
PMID:35362483
Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion.
PMID:35361255
Short Tandem Repeat Variation in the CNR1 Gene Associated With Analgesic Requirements of Opioids in Postoperative Pain Management.
PMID:35360861
Insights Into Genome-Wide Association Study for Diabetes: A Bibliometric and Visual Analysis From 2001 to 2021.
PMID:35360064
A complete reference genome improves analysis of human genetic variation.
PMID:35357935
The complete sequence of a human genome.
PMID:35357919
Epigenetic patterns in a complete human genome.
PMID:35357915
Complete genomic and epigenetic maps of human centromeres.
PMID:35357911
Chromosomal Region 11p14.1 is Associated with Pharmacokinetics and Pharmacodynamics of Bisoprolol.
PMID:35356681
Benefits and limitations of a new genome-based PCR-RFLP genotyping assay (GB-RFLP): A SNP-based detection method for identification of species in extremely young adaptive radiations.
PMID:35356554
PFP Compressed Suffix Trees.
PMID:35355938
CRISPR Detection and Research on Screening Mutant Gene TTN of Moyamoya Disease Family Based on Whole Exome Sequencing.
PMID:35355511
Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India.
PMID:35350997
Genomic diversity and post-admixture adaptation in the Uyghurs.
PMID:35350227
Aspirin and the Risk of Colorectal Cancer According to Genetic Susceptibility among Older Individuals.
PMID:35348611
Pharmacogenomic landscape of Indian population using whole genomes.
PMID:35338580
Guide RNAs containing universal bases enable Cas9/Cas12a recognition of polymorphic sequences.
PMID:35338140
Cross-ethnic analysis of common gene variants in hemostasis show lopsided representation of global populations in genetic databases.
PMID:35337356
STOP Pain Project-Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways.
PMID:35335997
Alcohol, Coffee, and Milk Intake in Relation to Epilepsy Risk.
PMID:35334809
The association between rs1260326 with the risk of NAFLD and the mediation effect of triglyceride on NAFLD in the elderly Chinese Han population.
PMID:35333773
Evolution of Protein Functional Annotation: Text Mining Study.
PMID:35330478
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.
PMID:35330423
National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review.
PMID:35328109
Circum-Saharan Prehistory through the Lens of mtDNA Diversity.
PMID:35328086
Genome-Wide Association Study Adjusted for Occupational and Environmental Factors for Bladder Cancer Susceptibility.
PMID:35328002
Polygenic Risk for Schizophrenia Has Sex-Specific Effects on Brain Activity during Memory Processing in Healthy Individuals.
PMID:35327966
Myopia Genetics and Heredity.
PMID:35327754
Drug-Targeted Genomes: Mutability of Ion Channels and GPCRs.
PMID:35327396
MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations.
PMID:35323929
Integrative transcriptomic, evolutionary, and causal inference framework for region-level analysis: Application to COVID-19.
PMID:35318325
South-to-north migration preceded the advent of intensive farming in the Maya region.
PMID:35318319
A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene.
PMID:35316504
Incorporating regulatory interactions into gene-set analyses for GWAS data: A controlled analysis with the MAGMA tool.
PMID:35316269
Gene-lifestyle interactions in the genomics of human complex traits.
PMID:35314805
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
PMID:35314707
ADARs act as potent regulators of circular transcriptome in cancer.
PMID:35314703
A Genome-Wide Association Study and Machine-Learning Algorithm Analysis on the Prediction of Facial Phenotypes by Genotypes in Korean Women.
PMID:35313536
A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant.
PMID:35311234
CIAlign: A highly customisable command line tool to clean, interpret and visualise multiple sequence alignments.
PMID:35310163
seGMM: A New Tool for Gender Determination From Massively Parallel Sequencing Data.
PMID:35309142
Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency.
PMID:35309119
Gene-Based Analysis Reveals Sex-Specific Genetic Risk Factors of COPD.
PMID:35308900
A physiologically based pharmacokinetic model of clopidogrel in populations of European and Japanese ancestry: An evaluation of CYP2C19 activity.
PMID:35307978
Taller height and risk of coronary heart disease and cancer: A within-sibship Mendelian randomization study.
PMID:35302490
Massively parallel enrichment of low-frequency alleles enables duplex sequencing at low depth.
PMID:35301450
Convergence of case-specific epigenetic alterations identify a confluence of genetic vulnerabilities tied to opioid overdose.
PMID:35301427
A general framework for identifying oligogenic combinations of rare variants in complex disorders.
PMID:35301265
A general calculus of fitness landscapes finds genes under selection in cancers.
PMID:35301263
A genome-wide association study of outcome from traumatic brain injury.
PMID:35301180
RAREsim: A simulation method for very rare genetic variants.
PMID:35298919
A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.
PMID:35298028
Positive selection acts on regulatory genetic variants in populations of European ancestry that affect ALDH2 gene expression.
PMID:35296751
An exposomic framework to uncover environmental drivers of aging.
PMID:35295547
Properties of 2-locus genealogies and linkage disequilibrium in temporally structured samples.
PMID:35294015
Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes.
PMID:35292633
Integration of genetic colocalizations with physiological and pharmacological perturbations identifies cardiometabolic disease genes.
PMID:35292083
Splice-disrupt genomic variants in prostate cancer.
PMID:35286517
Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations.
PMID:35285134
New associations of serum β-carotene, lycopene, and zeaxanthin concentrations with NR1H3, APOB, RDH12, AND CYP genes.
PMID:35282004
Genetic Epidemiology of Medication Safety and Efficacy Related Variants in the Central Han Chinese Population With Whole Genome Sequencing.
PMID:35280256
Understanding signatures of positive natural selection in human zinc transporter genes.
PMID:35279701
Apolipoprotein A-V is a potential target for treating coronary artery disease: evidence from genetic and metabolomic analyses.
PMID:35278410
Novel alleles gained during the Beringian isolation period.
PMID:35277570
Genome-wide pharmacogenetics of anti-drug antibody response to bococizumab highlights key residues in HLA DRB1 and DQB1.
PMID:35277540
Influence of Nutritional Intakes in Japan and the United States on COVID-19 Infection.
PMID:35276992
Interplay between Maternal and Neonatal Vitamin D Deficiency and Vitamin-D-Related Gene Polymorphism with Neonatal Birth Anthropometry.
PMID:35276923
Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.
PMID:35276006
Exome sequencing identifies variants in infants with sacral agenesis.
PMID:35274497
Cohort profile: genomic data for 26 622 individuals from the Canadian Longitudinal Study on Aging (CLSA).
PMID:35273064
Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes.
PMID:35271803
Hunter-gatherer genomes reveal diverse demographic trajectories during the rise of farming in Eastern Africa.
PMID:35271793
Variants in the VDR Gene May Influence 25(OH)D Levels in Type 1 Diabetes Mellitus in a Brazilian Population.
PMID:35267984
Assessment of linkage disequilibrium patterns between structural variants and single nucleotide polymorphisms in three commercial chicken populations.
PMID:35264116
Thrombotic risk determined by rare and common SERPINA1 variants in a population-based cohort study.
PMID:35263815
Predicted gene expression in ancestrally diverse populations leads to discovery of susceptibility loci for lifestyle and cardiometabolic traits.
PMID:35263625
Amygdala and anterior cingulate transcriptomes from individuals with bipolar disorder reveal downregulated neuroimmune and synaptic pathways.
PMID:35260864
Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors.
PMID:35260767
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
PMID:35260199
The genomic signatures of natural selection in admixed human populations.
PMID:35259336
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data.
PMID:35256806
Genotyping of Dombrock blood group system in blood donors from Saudi Arabia: A single-center study.
PMID:35256491
Pan-human consensus genome significantly improves the accuracy of RNA-seq analyses.
PMID:35256454
Genetic Susceptibility to Enteric Fever in Experimentally Challenged Human Volunteers.
PMID:35254093
Dissecting the Polygenic Basis of Primary Hypertension: Identification of Key Pathway-Specific Components.
PMID:35252394
Development and Performance Evaluation of a Novel Ancestry Informative DIP Panel for Continental Origin Inference.
PMID:35251118
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.
PMID:35248088
CNVind: an open source cloud-based pipeline for rare CNVs detection in whole exome sequencing data based on the depth of coverage.
PMID:35247967
Landscape of adenosine-to-inosine RNA recoding across human tissues.
PMID:35246538
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
PMID:35246524
Gene-based association tests using GWAS summary statistics and incorporating eQTL.
PMID:35241742
Towards accurate and reliable resolution of structural variants for clinical diagnosis.
PMID:35241127
Proteome-wide Mendelian randomization identifies causal links between blood proteins and severe COVID-19.
PMID:35239653
Missense variants in human ACE2 strongly affect binding to SARS-CoV-2 Spike providing a mechanism for ACE2 mediated genetic risk in Covid-19: A case study in affinity predictions of interface variants.
PMID:35235558
Spatial Multiomics Analysis Reveals Only Minor Genetic and Epigenetic Changes in Human Liver Cancer Stem-Like Cells Compared With Other Tumor Parenchymal Cells.
PMID:35223840
Comparison of multiple imputation algorithms and verification using whole-genome sequencing in the CMUH genetic biobank.
PMID:35223420
Comparative Assessment of Outcomes in Drug Treatment for Smoking Cessation and Role of Genetic Polymorphisms of Human Nicotinic Acetylcholine Receptor Subunits.
PMID:35222535
The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.
PMID:35221333
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.
PMID:35220969
Cross-continental admixture in the Kho population from northwest Pakistan.
PMID:35217804
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
PMID:35216386
Predicting Anticancer Drug Resistance Mediated by Mutations.
PMID:35215249
Single-cell eQTL analysis of activated T cell subsets reveals activation and cell type-dependent effects of disease-risk variants.
PMID:35213211
Characterizing mobile element insertions in 5675 genomes.
PMID:35212372
Interpreting Clinical Trials With Omega-3 Supplements in the Context of Ancestry and FADS Genetic Variation.
PMID:35211495
Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome.
PMID:35207686
How Genetics Can Improve Clinical Practice in Chronic Kidney Disease: From Bench to Bedside.
PMID:35207681
Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy.
PMID:35207663
Association of Variability in the DDAH1, DDAH2, AGXT2 and PRMT1 Genes with Circulating ADMA Concentration in Human Whole Blood.
PMID:35207213
Low Mutational Burden of Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue in Patients with Primary Sjogren's Syndrome.
PMID:35205758
Exome Evaluation of Autism-Associated Genes in Amazon American Populations.
PMID:35205412
Overview of the Americas' First Peopling from a Patrilineal Perspective: New Evidence from the Southern Continent.
PMID:35205264
Whole Genome Sequencing Unravels New Genetic Determinants of Early-Onset Familial Osteoporosis and Low BMD in Malta.
PMID:35205249
Improved DNA Extraction and Illumina Sequencing of DNA Recovered from Aged Rootless Hair Shafts Found in Relics Associated with the Romanov Family.
PMID:35205247
The Difference in the Proportions of Deleterious Variations within and between Populations Influences the Estimation of FST.
PMID:35205239
gJLS2: an R package for generalized joint location and scale analysis in X-inclusive genome-wide association studies.
PMID:35201341
Ancient DNA and deep population structure in sub-Saharan African foragers.
PMID:35197631
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
PMID:35197628
TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.
PMID:35197626
Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes.
PMID:35197564
IDH1/2 mutations in acute myeloid leukemia.
PMID:35197370
A framework to score the effects of structural variants in health and disease.
PMID:35197310
Tumor cell enrichment by tissue suspension enables detection of mutations with low variant allele frequency and estimation of germline mutations.
PMID:35194076
The major genetic risk factor for severe COVID-19 is associated with protection against HIV.
PMID:35193979
Functional noncoding SNPs in human endothelial cells fine-map vascular trait associations.
PMID:35193936
Fine-Scale Genetic Structure in the United Arab Emirates Reflects Endogamous and Consanguineous Culture, Population History, and Geography.
PMID:35192718
Cross-ancestry Genome-wide Association Studies of Sex Hormone Concentrations in Pre- and Postmenopausal Women.
PMID:35192695
Allele imputation for the killer cell immunoglobulin-like receptor KIR3DL1/S1.
PMID:35192601
Variant-level matching for diagnosis and discovery: Challenges and opportunities.
PMID:35191117
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.
PMID:35190550
Accuracy and applications of sequencing and genotyping approaches for CYP2A6 and homologous genes.
PMID:35190513
The Medaka Inbred Kiyosu-Karlsruhe (MIKK) panel.
PMID:35189950
Identifying Actionable Variants Using Capture-Based Targeted Sequencing in 563 Patients With Non-Small Cell Lung Carcinoma.
PMID:35186718
Novel mutations in the BEST1 gene cause distinct retinopathies in two Chinese families.
PMID:35186678
Mitochondria in tumour progression: a network of mtDNA variants in different types of cancer.
PMID:35183124
Deep learning-based identification of genetic variants: application to Alzheimer's disease classification.
PMID:35183061
Human intelectin-2 (ITLN2) is selectively expressed by secretory Paneth cells.
PMID:35182405
A cortactin CTTN coding SNP contributes to lung vascular permeability and inflammatory disease severity in African descent subjects.
PMID:35181549
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
PMID:35178824
An Alu insertion map of the Indian population: identification and analysis in 1021 genomes of the IndiGen project.
PMID:35178516
Assessing Autosomal InDel Loci With Multiple Insertions or Deletions of Random DNA Sequences in Human Genome.
PMID:35178073
Spatiotemporal dynamics of clonal selection and diversification in normal endometrial epithelium.
PMID:35177608
Indian genetic heritage in Southeast Asian populations.
PMID:35176016
Intersecting single-cell transcriptomics and genome-wide association studies identifies crucial cell populations and candidate genes for atherosclerosis.
PMID:35174364
Mu opioid receptor gene variant modulates subjective response to smoked cannabis.
PMID:35173880
Integrating single-cell sequencing data with GWAS summary statistics reveals CD16+monocytes and memory CD8+T cells involved in severe COVID-19.
PMID:35172892
Comparative analysis of antibody- and lipid-based multiplexing methods for single-cell RNA-seq.
PMID:35172874
A population study of clinically actionable genetic variation affecting drug response from the Middle East.
PMID:35169154
Placental methylome reveals a 22q13.33 brain regulatory gene locus associated with autism.
PMID:35168652
Functional genomics elucidates regulatory mechanisms of Parkinson's disease-associated variants.
PMID:35168626
Factors That Affect the Rates of Adaptive and Nonadaptive Evolution at the Gene Level in Humans and Chimpanzees.
PMID:35166775
Genetic variation at mouse and human ribosomal DNA influences associated epigenetic states.
PMID:35164830
Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer.
PMID:35163215
Epigenomic and Transcriptomic Prioritization of Candidate Obesity-Risk Regulatory GWAS SNPs.
PMID:35163195
A Brief Overview of Radiation-Induced Effects on Spermatogenesis and Oncofertility.
PMID:35159072
Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer.
PMID:35158942
Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy in Children with Cancer: A Systematic Review and Meta-Analysis.
PMID:35158880
FNTB Promoter Polymorphisms Are Independent Predictors of Survival in Patients with Triple Negative Breast Cancer.
PMID:35158735
Towards equitable and trustworthy genomics research.
PMID:35158310
Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation.
PMID:35154276
Contribution of common and rare genetic variants in CEP72 on vincristine-induced peripheral neuropathy in brain tumour patients.
PMID:35150001
UGT1A1 genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab.
PMID:35149777
A functional TGFB1 polymorphism in the donor associates with long-term graft survival after kidney transplantation.
PMID:35145642
Unveiling the Genetic History of the Maniq, a Primary Hunter-Gatherer Society.
PMID:35143674
Changing Population Size in McDonald-Kreitman Style Analyses: Artifactual Correlations and Adaptive Evolution between Humans and Chimpanzees.
PMID:35143656
Human embryoid bodies as a novel system for genomic studies of functionally diverse cell types.
PMID:35142607
Transcriptomics and sequencing analysis of gene expression profiling for major depressive disorder.
PMID:35136251
Systematic Heritability and Heritability Enrichment Analysis for Diabetes Complications in UK Biobank and ACCORD Studies.
PMID:35133398
Curated variation benchmarks for challenging medically relevant autosomal genes.
PMID:35132260
A genome-wide association study on adherence to low-carbohydrate diets in Japanese.
PMID:35132194
Prioritization of putatively detrimental variants in euploid miscarriages.
PMID:35132093
Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.
PMID:35130025
New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes.
PMID:35128830
Migraine, Stroke, and Cervical Arterial Dissection: Shared Genetics for a Triad of Brain Disorders With Vascular Involvement.
PMID:35128049
Placental genomics mediates genetic associations with complex health traits and disease.
PMID:35121757
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.
PMID:35120630
Challenges at the APOE locus: a robust quality control approach for accurate APOE genotyping.
PMID:35120553
The rs1458038 variant near FGF5 is associated with poor response to calcium channel blockers among Filipinos.
PMID:35119014
Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.
PMID:35115730
Assortative mating biases marker-based heritability estimators.
PMID:35115518
Human Leukocyte Antigen Association Study Reveals DRB1*04:02 Effects Additional to DRB1*07:01 in Anti-LGI1 Encephalitis.
PMID:35115410
Genetically proxied therapeutic inhibition of antihypertensive drug targets and risk of common cancers: A mendelian randomization analysis.
PMID:35113855
From musk to body odor: Decoding olfaction through genetic variation.
PMID:35113854
Classic Thrombophilias and Thrombotic Risk Among Middle-Aged and Older Adults: A Population-Based Cohort Study.
PMID:35112923
Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.
PMID:35112701
A robust method for collider bias correction in conditional genome-wide association studies.
PMID:35110547
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
PMID:35110524
Widespread genetic heterogeneity of human ribosomal RNA genes.
PMID:35110373
Leveraging gene co-regulation to identify gene sets enriched for disease heritability.
PMID:35108496
Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study.
PMID:35106505
Enhancer-silencer transitions in the human genome.
PMID:35105669
Exploring the causal effect of maternal pregnancy adiposity on offspring adiposity: Mendelian randomisation using polygenic risk scores.
PMID:35101027
Context dependency of nucleotide probabilities and variants in human DNA.
PMID:35100973
Robust detection of natural selection using a probabilistic model of tree imbalance.
PMID:35100408
Haplotype-based inference of the distribution of fitness effects.
PMID:35100400
Genetic diversity estimates for the Caenorhabditis Intervention Testing Program screening panel.
PMID:35098051
Investigating the effect of sexual behaviour on oropharyngeal cancer risk: a methodological assessment of Mendelian randomization.
PMID:35094705
A framework for research into continental ancestry groups of the UK Biobank.
PMID:35093177
Variant interpretation in molecular autopsy: a useful dilemma.
PMID:35091851
Rho GTPase gene expression and breast cancer risk: a Mendelian randomization analysis.
PMID:35087170
Polygenic risk and causal inference of psychiatric comorbidity in inflammatory bowel disease among patients with European ancestry.
PMID:35086532
Association of Genetic Ancestry With the Molecular Subtypes and Prognosis of Childhood Acute Lymphoblastic Leukemia.
PMID:35084434
Systematic Evaluation of a Novel 6-dye Direct and Multiplex PCR-CE-Based InDel Typing System for Forensic Purposes.
PMID:35082827
Comparative assessment of genes driving cancer and somatic evolution in non-cancer tissues: an update of the Network of Cancer Genes (NCG) resource.
PMID:35078504
A deep learning framework for characterization of genotype data.
PMID:35078229
Iam hiQ-a novel pair of accuracy indices for imputed genotypes.
PMID:35073846
In silico analysis of potential off-target sites to gene editing for Mucopolysaccharidosis type I using the CRISPR/Cas9 system: Implications for population-specific treatments.
PMID:35073349
A simplified protocol for performing MAGMA/H-MAGMA gene set analysis utilizing high-performance computing environments.
PMID:35072112
Co-Inference of Data Mislabelings Reveals Improved Models in Genomics and Breast Cancer Diagnostics.
PMID:35072059
Alzheimer's Disease Variant Portal: A Catalog of Genetic Findings for Alzheimer's Disease.
PMID:35068457
A flexible summary statistics-based colocalization method with application to the mucin cystic fibrosis lung disease modifier locus.
PMID:35065708
Tissue-specific multi-omics analysis of atrial fibrillation.
PMID:35064145
Association of Genetic Ancestry and Molecular Signatures with Cancer Survival Disparities: A Pan-Cancer Analysis.
PMID:35064017
Polympact: exploring functional relations among common human genetic variants.
PMID:35061909
Uniparental markers reveal new insights on subcontinental ancestry and sex-biased admixture in Brazil.
PMID:35061071
Regenerating zebrafish scales express a subset of evolutionary conserved genes involved in human skeletal disease.
PMID:35057801
The Effect of Circulating Zinc, Selenium, Copper and Vitamin K1 on COVID-19 Outcomes: A Mendelian Randomization Study.
PMID:35057415
Identification of Survival-Specific Genes in Clear Cell Renal Cell Carcinoma Using a Customized Next-Generation Sequencing Gene Panel.
PMID:35055428
High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic.
PMID:35054514
Review of the Forensic Applicability of Biostatistical Methods for Inferring Ancestry from Autosomal Genetic Markers.
PMID:35052480
Morning Cortisol and Circulating Inflammatory Cytokine Levels: A Mendelian Randomisation Study.
PMID:35052454
Genetic Regulation of Cytokine Response in Patients with Acute Community-Acquired Pneumonia.
PMID:35052452
Adolescent Verbal Memory as a Psychosis Endophenotype: A Genome-Wide Association Study in an Ancestrally Diverse Sample.
PMID:35052446
Exploring the Contribution to ADHD of Genes Involved in Mendelian Disorders Presenting with Hyperactivity and/or Inattention.
PMID:35052433
Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes.
PMID:35051175
Adaptive eQTLs reveal the evolutionary impacts of pleiotropy and tissue-specificity while contributing to health and disease.
PMID:35047867
Associations of genetic susceptibility to 16 cancers with risk of breast cancer overall and by intrinsic subtypes.
PMID:35047862
Population-based genetic effects for developmental stuttering.
PMID:35047858
TIGAR-V2: Efficient TWAS tool with nonparametric Bayesian eQTL weights of 49 tissue types from GTEx V8.
PMID:35047855
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
PMID:35046417
Exploring gene-culture coevolution in humans by inferring neuroendophenotypes: A case study of the oxytocin receptor gene and cultural tightness.
PMID:35044077
Functional variants in cytochrome b5 type A (CYB5A) are enriched in Southwest American Indian individuals and associate with obesity.
PMID:35043601
Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1.
PMID:35042540
Detecting selection using extended haplotype homozygosity (EHH)-based statistics in unphased or unpolarized data.
PMID:35041674
Finding Maximal Exact Matches Using the r-Index.
PMID:35041518
MONI: A Pangenomic Index for Finding Maximal Exact Matches.
PMID:35041495
The Genetic Origin of Daunians and the Pan-Mediterranean Southern Italian Iron Age Context.
PMID:35038748
An adipose lncRAP2-Igf2bp2 complex enhances adipogenesis and energy expenditure by stabilizing target mRNAs.
PMID:35036870
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
PMID:35036865
Short structural variants as informative genetic markers for ALS disease risk and progression.
PMID:35034660
Core promoter mutation contributes to abnormal gene expression in bladder cancer.
PMID:35033028
Genetic continuity of Indo-Iranian speakers since the Iron Age in southern Central Asia.
PMID:35031610
ECCsplorer: a pipeline to detect extrachromosomal circular DNA (eccDNA) from next-generation sequencing data.
PMID:35030991
Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19.
PMID:35027740
The genetic architecture of pediatric cardiomyopathy.
PMID:35026164
Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes.
PMID:35022648
De novo mutations identified by whole-genome sequencing implicate chromatin modifications in obsessive-compulsive disorder.
PMID:35020433
The insertion and dysregulation of transposable elements in osteosarcoma and their association with patient event-free survival.
PMID:35013466
Comprehensive exploration of the genetic contribution of the dopaminergic and serotonergic pathways to psychiatric disorders.
PMID:35013130
Validation and genetic heritability estimation of known type 2 diabetes related variants in the Korean population.
PMID:35012284
Comprehensive Molecular Landscape of Cetuximab Resistance in Head and Neck Cancer Cell Lines.
PMID:35011716
Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis.
PMID:35008743
Additional evaluations show that specific BWA-aln settings still outperform BWA-mem for ancient DNA data alignment.
PMID:35003706
Construction and Clinical Translation of Causal Pan-Cancer Gene Score Across Cancer Types.
PMID:35003220
A network-based integration for understanding racial disparity in prostate cancer.
PMID:34998235
Genome-wide association study identifies tumor anatomical site-specific risk variants for colorectal cancer survival.
PMID:34996992
SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.
PMID:34996976
Genetic Contributors of Incident Stroke in 10,700 African Americans With Hypertension: A Meta-Analysis From the Genetics of Hypertension Associated Treatments and Reasons for Geographic and Racial Differences in Stroke Studies.
PMID:34992631
Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies.
PMID:34992268
SweepCluster: A SNP clustering tool for detecting gene-specific sweeps in prokaryotes.
PMID:34991447
Genome-Wide Association Study of Clinical Outcome After Aneurysmal Subarachnoid Haemorrhage: Protocol.
PMID:34988871
Investigating the Causal Relationship Between Physical Activity and Chronic Back Pain: A Bidirectional Two-Sample Mendelian Randomization Study.
PMID:34987546
Reduced CCR5 Expression and Immune Quiescence in Black South African HIV-1 Controllers.
PMID:34987508
An intron SNP rs2069837 in IL-6 is associated with osteonecrosis of the femoral head development.
PMID:34986839
Integrative clinical and molecular characterization of translocation renal cell carcinoma.
PMID:34986355
A substitution in the glutathione reductase lowers electron leakage and inflammation in modern humans.
PMID:34985944
The frequency of the known mitochondrial variants associated with drug-induced toxicity in a Korean population.
PMID:34980117
Identification of a Risk Locus at 7p22.3 for Schizophrenia and Bipolar Disorder in East Asian Populations.
PMID:34976021
Neutrophil cytosolic factor 2 (NCF2) gene polymorphism is associated with juvenile-onset systemic lupus erythematosus, but probably not with other autoimmune rheumatic diseases in children.
PMID:34971477
Deciphering the Polygenic Basis of Racial Disparities in Prostate Cancer By an Integrative Analysis of Genomic and Transcriptomic Data.
PMID:34965922
Combining Human Genetics of Multiple Sclerosis with Oxidative Stress Phenotype for Drug Repositioning.
PMID:34959343
Different genes may be involved in distal and local sensitization: A genome-wide gene-based association study and meta-analysis.
PMID:34958702
Assessing Causal Relationship Between Human Blood Metabolites and Five Neurodegenerative Diseases With GWAS Summary Statistics.
PMID:34955704
Frequencies of CYP2B6∗4,∗5, and ∗6 Alleles within an Iranian Population (Mazandaran).
PMID:34949964
Fast and accurate metagenotyping of the human gut microbiome with GT-Pro.
PMID:34949778
VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage.
PMID:34946927
The FORCE Panel: An All-in-One SNP Marker Set for Confirming Investigative Genetic Genealogy Leads and for General Forensic Applications.
PMID:34946917
Weaving Mitochondrial DNA and Y-Chromosome Variation in the Panamanian Genetic Canvas.
PMID:34946870
Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction.
PMID:34946863
Microorganisms as Shapers of Human Civilization, from Pandemics to Even Our Genomes: Villains or Friends? A Historical Approach.
PMID:34946123
Development and Validation of Decision Rules Models to Stratify Coronary Artery Disease, Diabetes, and Hypertension Risk in Preventive Care: Cohort Study of Returning UK Biobank Participants.
PMID:34945794
Association of Genes of the NO Pathway with Altitude Disease and Hypoxic Pulmonary Hypertension.
PMID:34945057
A Novel WT1 Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9.
PMID:34943163
Transgenic Model Systems Have Revolutionized the Study of Disease.
PMID:34941457
Genetic Connections and Convergent Evolution of Tropical Indigenous Peoples in Asia.
PMID:34940850
MutTMPredictor: Robust and accurate cascade XGBoost classifier for prediction of mutations in transmembrane proteins.
PMID:34938415
Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.
PMID:34933343
Classical risk factors for primary coronary artery disease from an aging perspective through Mendelian Randomization.
PMID:34932184
Dissecting the IL-6 pathway in cardiometabolic disease: A Mendelian randomization study on both IL6 and IL6R.
PMID:34931349
LDexpress: an online tool for integrating population-specific linkage disequilibrium patterns with tissue-specific expression data.
PMID:34930111
PAGEANT: personal access to genome and analysis of natural traits.
PMID:34928375
Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine-mapping in the MHC and genomewide.
PMID:34927100
Potential Genetic Overlap Between Insomnia and Sleep Symptoms in Major Depressive Disorder: A Polygenic Risk Score Analysis.
PMID:34925085
Solving the Molecular Basis of the Developmental and Epileptic Encephalopathies: Are We there Yet?
PMID:34924850
Assessing Bos taurus introgression in the UOA Bos indicus assembly.
PMID:34922445
Prioritising positively selected variants in whole-genome sequencing data using FineMAV.
PMID:34922440
Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries.
PMID:34919805
Whole genome sequencing-based copy number variations reveal novel pathways and targets in Alzheimer's disease.
PMID:34918867
A Genetic Map of the Modern Urban Society of Amsterdam.
PMID:34917125
The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.
PMID:34915860
Lower promoter activity of the ST8SIA2 gene has been favored in evolving human collective brains.
PMID:34914745
MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.
PMID:34912045
splatPop: simulating population scale single-cell RNA sequencing data.
PMID:34911537
Social stratification without genetic differentiation at the site of Kulubnarti in Christian Period Nubia.
PMID:34907168
Genetic variants at the RTP4/MASP1 locus are associated with fatigue in Scandinavian patients with primary Sjögren's syndrome.
PMID:34907023
Polygenic risk scores for prediction of breast cancer risk in Asian populations.
PMID:34906514
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
PMID:34906457
Estrogen receptor alpha and NFATc1 bind to a bone mineral density-associated SNP to repress WNT5B in osteoblasts.
PMID:34906330
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
PMID:34905135
Migraine and Ischemic Stroke: A Mendelian Randomization Study.
PMID:34904213
snpQT: flexible, reproducible, and comprehensive quality control and imputation of genomic data.
PMID:34900230
Limitations of lymphoblastoid cell lines for establishing genetic reference datasets in the immunoglobulin loci.
PMID:34898642
A reference-quality, fully annotated genome from a Puerto Rican individual.
PMID:34897437
A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells.
PMID:34895331
Fine-scale population structure and demographic history of British Pakistanis.
PMID:34893604
Using game theory to thwart multistage privacy intrusions when sharing data.
PMID:34890225
A Deep-Learning Approach for Inference of Selective Sweeps from the Ancestral Recombination Graph.
PMID:34888675
Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease.
PMID:34888534
Programmable deletion, replacement, integration and inversion of large DNA sequences with twin prime editing.
PMID:34887556
Integration of Mutational Signature Analysis with 3D Chromatin Data Unveils Differential AID-Related Mutagenesis in Indolent Lymphomas.
PMID:34884820
Computational analysis of cancer genome sequencing data.
PMID:34880424
Targeted analysis of genomic regions enriched in African ancestry reveals novel classical HLA alleles associated with asthma in Southwestern Europeans.
PMID:34880287
Functional organization of the maternal and paternal human 4D Nucleome.
PMID:34877507
Whole-exome sequencing, EGFR amplification and infiltration patterns in human glioblastoma.
PMID:34873478
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
PMID:34873335
Single cell sequencing analysis identifies genetics-modulated ORMDL3+ cholangiocytes having higher metabolic effects on primary biliary cholangitis.
PMID:34872583
Whole-Exome Sequencing Reveals Recurrent but Heterogeneous Mutational Profiles in Sporadic WHO Grade 1 Meningiomas.
PMID:34868937
Regulatory SNP of RREB1 is Associated With Bone Mineral Density in Chinese Postmenopausal Osteoporosis Patients.
PMID:34868232
Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice.
PMID:34867808
Population-specific diversity of the immunoglobulin constant heavy G chain (IGHG) genes.
PMID:34864821
Genome-Wide association between EYA1 and Aspirin-induced peptic ulceration.
PMID:34864618
Compendium of human transcription factor effector domains.
PMID:34863368
Recessive Genome-Wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes.
PMID:34862199
Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors.
PMID:34861974
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.
PMID:34861889
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.
PMID:34859289
Large Multicohort Study Reveals a Prostate Cancer Susceptibility Allele at 5p15 Regulating TERT via Androgen Signaling-Orchestrated Chromatin Binding of E2F1 and MYC.
PMID:34858826
A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome.
PMID:34856927
Periodontitis Risk Variants at SIGLEC5 Impair ERG and MAFB Binding.
PMID:34852650
Decoding the effects of synonymous variants.
PMID:34850938
Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus.
PMID:34850884
Sweeps in time: leveraging the joint distribution of branch lengths.
PMID:34849880
Sporadic occurrence of recent selective sweeps from standing variation in humans as revealed by an approximate Bayesian computation approach.
PMID:34849862
Disentangling genetic feature selection and aggregation in transcriptome-wide association studies.
PMID:34849857
Properties and unbiased estimation of F- and D-statistics in samples containing related and inbred individuals.
PMID:34849832
Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India.
PMID:34849271
Interactions between Genetic, Prenatal, Cortisol, and Parenting Influences on Adolescent Substance Use and Frequency: A TRAILS Study.
PMID:34847558
HLA-G genetic diversity and evolutive aspects in worldwide populations.
PMID:34845256
Effects of genetic risk for alcohol dependence and onset of regular drinking on the progression to alcohol dependence: A polygenic risk score approach.
PMID:34844060
Protective association of Klotho rs495392 gene polymorphism against hepatic steatosis in non-alcoholic fatty liver disease patients.
PMID:34839623
Association of polygenic risk scores, traumatic life events and coping strategies with war-related PTSD diagnosis and symptom severity in the South Eastern Europe (SEE)-PTSD cohort.
PMID:34837533
Metformin treatment of diverse Caenorhabditis species reveals the importance of genetic background in longevity and healthspan extension outcomes.
PMID:34837316
Whole-genome analysis of Nigerian patients with breast cancer reveals ethnic-driven somatic evolution and distinct genomic subtypes.
PMID:34836952
Polygenic risk scores across the extended psychosis spectrum.
PMID:34836939
Impact of Genetic Polymorphisms on the Metabolic Pathway of Vitamin D and Survival in Non-Small Cell Lung Cancer.
PMID:34836039
The Impact of Acquired Genetic Abnormalities on the Clinical Translation of Human Pluripotent Stem Cells.
PMID:34831467
Bench Research Informed by GWAS Results.
PMID:34831407
A Polygenic Risk Score Predicts Incident Prostate Cancer Risk in Older Men but Does Not Select for Clinically Significant Disease.
PMID:34830967
Discrimination between 34 of 36 Possible Combinations of Three C>T SNP Genotypes in the MGMT Promoter by High Resolution Melting Analysis Coupled with Pyrosequencing Using A Single Primer Set.
PMID:34830407
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.
PMID:34829491
Poking COVID-19: Insights on Genomic Constraints among Immune-Related Genes between Qatari and Italian Populations.
PMID:34828448
Association of a Total Cholesterol Polygenic Score with Cholesterol Levels and Pathological Biomarkers across the Alzheimer's Disease Spectrum.
PMID:34828411
The Ancestry of Eastern Paraguay: A Typical South American Profile with a Unique Pattern of Admixture.
PMID:34828394
Associations of Polymorphisms Localized in the 3'UTR Regions of the KRAS, NRAS, MAPK1 Genes with Laryngeal Squamous Cell Carcinoma.
PMID:34828284
African Gene Flow Reduces Beta-Ionone Anosmia/Hyposmia Prevalence in Admixed Malagasy Populations.
PMID:34827404
Genetic diversity of 'Very Important Pharmacogenes' in two South-Asian populations.
PMID:34824904
On powerful GWAS in admixed populations.
PMID:34824480
Rank-invariant estimation of inbreeding coefficients.
PMID:34824382
Oxytocin-pathway polygenic scores for severe mental disorders and metabolic phenotypes in the UK Biobank.
PMID:34824196
Bayesian model comparison for rare-variant association studies.
PMID:34822764
Sex-Specific Causal Relations between Steroid Hormones and Obesity-A Mendelian Randomization Study.
PMID:34822396
Genetic ancestry effects on the response to viral infection are pervasive but cell type specific.
PMID:34822289
CNVpytor: a tool for copy number variation detection and analysis from read depth and allele imbalance in whole-genome sequencing.
PMID:34817058
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial.
PMID:34816521
Effects of OPRM1 and DRD2 on brain structure in drug-naïve adolescents: Genetic and neural vulnerabilities to substance use.
PMID:34816289
Human and rat skeletal muscle single-nuclei multi-omic integrative analyses nominate causal cell types, regulatory elements, and SNPs for complex traits.
PMID:34815310
Whole Genome Sequence Analysis of the Plasma Proteome in Black Adults Provides Novel Insights Into Cardiovascular Disease.
PMID:34814699
trioPhaser: using Mendelian inheritance logic to improve genomic phasing of trios.
PMID:34809557
Matrix Gla Protein Levels Are Associated With Arterial Stiffness and Incident Heart Failure With Preserved Ejection Fraction.
PMID:34809448
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.
PMID:34807224
Mutation saturation for fitness effects at human CpG sites.
PMID:34806592
NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.
PMID:34805998
Cataloging Human PRDM9 Allelic Variation Using Long-Read Sequencing Reveals PRDM9 Population Specificity and Two Distinct Groupings of Related Alleles.
PMID:34805134
An Overview of Strategies for Detecting Genotype-Phenotype Associations Across Ancestrally Diverse Populations.
PMID:34804113
Covariate adaptive familywise error rate control for genome-wide association studies.
PMID:34803516
COVID-19 genetic risk variants are associated with expression of multiple genes in diverse immune cell types.
PMID:34799557
Alu insertion variants alter gene transcript levels.
PMID:34799402
Multidimensional Mutational Profiling of the Indian HNSCC Sub-Population Provides IRAK1, a Novel Driver Gene and Potential Druggable Target.
PMID:34796107
The web-based multiplex PCR primer design software Ultiplex and the associated experimental workflow: up to 100- plex multiplicity.
PMID:34794394
A genome-wide search for determinants of survival in 1926 patients with advanced colorectal cancer with follow-up in over 22,000 patients.
PMID:34794066
Inferred expression regulator activities suggest genes mediating cardiometabolic genetic signals.
PMID:34793442
A combinatorial oligogenic basis for the phenotypic plasticity between late-onset dilated and arrhythmogenic cardiomyopathy in a single family.
PMID:34790974
A Bayesian hierarchically structured prior for gene-based association testing with multiple traits in genome-wide association studies.
PMID:34787916
Associations between patterns in comorbid diagnostic trajectories of individuals with schizophrenia and etiological factors.
PMID:34785645
Handedness and its genetic influences are associated with structural asymmetries of the cerebral cortex in 31,864 individuals.
PMID:34785596
Investigating a Potential Causal Relationship Between Maternal Blood Pressure During Pregnancy and Future Offspring Cardiometabolic Health.
PMID:34784738
Multiple stages of evolutionary change in anthrax toxin receptor expression in humans.
PMID:34782625
Genome-wide association study reveals genetic variants associated with HIV-1C infection in a Botswana study population.
PMID:34782459
Short NK- and Naïve T-Cell Telomere Length Is Associated with Thyroid Cancer in Childhood Cancer Survivors: A Report from the Childhood Cancer Survivor Study.
PMID:34782395
A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease.
PMID:34782358
MicroRNA Variants and HLA-miRNA Interactions are Novel Rheumatoid Arthritis Susceptibility Factors.
PMID:34777472
Accurate long-read de novo assembly evaluation with Inspector.
PMID:34775997
A single-cell atlas of chromatin accessibility in the human genome.
PMID:34774128
Consensus of experts from the Spanish Pharmacogenetics and Pharmacogenomics Society and the Spanish Society of Medical Oncology for the genotyping of DPYD in cancer patients who are candidates for treatment with fluoropyrimidines.
PMID:34773566
Haplotype-aware inference of human chromosome abnormalities.
PMID:34772814
Identification of Risk Loci for Radiotoxicity in Prostate Cancer by Comprehensive Genotyping of TGFB1 and TGFBR1.
PMID:34771749
From Forensics to Clinical Research: Expanding the Variant Calling Pipeline for the Precision ID mtDNA Whole Genome Panel.
PMID:34769461
Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics.
PMID:34767756
Pharmacogenetic studies of long-acting beta agonist and inhaled corticosteroid responsiveness in randomised controlled trials of individuals of African descent with asthma.
PMID:34762840
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.
PMID:34762822
Association of CDH13 Gene Polymorphism and Metabolic Syndrome in Gambian Population.
PMID:34759445
Privacy-preserving genotype imputation with fully homomorphic encryption.
PMID:34758288
Impact of polygenic risk for coronary artery disease and cardiovascular medication burden on cognitive impairment in psychotic disorders.
PMID:34756932
Evolutionary selection of alleles in the melanophilin gene that impacts on prostate organ function and cancer risk.
PMID:34754452
Harnessing natural variation to identify cis regulators of sex-biased gene expression in a multi-strain mouse liver model.
PMID:34752452
Novel findings from family-based exome sequencing for children with biliary atresia.
PMID:34750413
The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele.
PMID:34750360
Constructing germline research cohorts from the discarded reads of clinical tumor sequences.
PMID:34749793
What sequencing technologies can teach us about innate immunity.
PMID:34747035
An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients.
PMID:34746695
Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants.
PMID:34746235
Polymorphisms within Genes Coding for IL-17A and F and Their Receptor as Clinical Hallmarks in Ankylosing Spondylitis.
PMID:34744511
A population-specific reference panel for improved genotype imputation in African Americans.
PMID:34741098
Conservation and divergence in gene regulation between mouse and human immune cells deserves equal emphasis.
PMID:34740529
DNA methylation at a nutritionally sensitive region of the PAX8 gene is associated with thyroid volume and function in Gambian children.
PMID:34739318
Vitamin D and the risk of treatment-resistant and atypical depression: A Mendelian randomization study.
PMID:34737282
Assortative mating and within-spouse pair comparisons.
PMID:34735433
Multi-Ancestry Genome-wide Association Study Accounting for Gene-Psychosocial Factor Interactions Identifies Novel Loci for Blood Pressure Traits.
PMID:34734193
'Omics' of suicidal behaviour: A path to personalised psychiatry.
PMID:34733641
Comparing Genetic and Socioenvironmental Contributions to Ethnic Differences in C-Reactive Protein.
PMID:34733313
Genome-wide CRISPR interference screen identifies long non-coding RNA loci required for differentiation and pluripotency.
PMID:34731163
Interleukin-37 gene polymorphism and susceptibility to coronavirus disease 19 among Iraqi patients.
PMID:34729360
Genetic variation in NDFIP1 modifies the metabolic patterns in immune cells of multiple sclerosis patients.
PMID:34725369
Systematic review reveals multiple sexually antagonistic polymorphisms affecting human disease and complex traits.
PMID:34723381
Gastrointestinal Dysmotility Is a Significant Feature in 2 Siblings With a Novel Inositol 1,4,5-Triphosphate Receptor 1 (ITPR1) Missense Variant.
PMID:34722792
Evaluating Causal Relationship Between Metabolites and Six Cardiovascular Diseases Based on GWAS Summary Statistics.
PMID:34721534
Comprehensive Insights Into Forensic Features and Genetic Background of Chinese Northwest Hui Group Using Six Distinct Categories of 231 Molecular Markers.
PMID:34721519
Apolipoprotein E Genetic Variation and Its Association With Cognitive Function in Rural-Dwelling Older South Africans.
PMID:34721516
The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.
PMID:34721006
Comprehensive analyses of RNA-seq and genome-wide data point to enrichment of neuronal cell type subsets in neuropsychiatric disorders.
PMID:34719691
Mid-pass whole genome sequencing enables biomedical genetic studies of diverse populations.
PMID:34719381
Similarity-Based Analysis of Allele Frequency Distribution among Multiple Populations Identifies Adaptive Genomic Structural Variants.
PMID:34718708
The UCSC Genome Browser database: 2022 update.
PMID:34718705
Tracing the Evolution of Human Gene Regulation and Its Association with Shifts in Environment.
PMID:34718543
Genetic polymorphisms of Vascular Endothelial Growth Factor (VEGF) associated with endometriosis in Nigerian women.
PMID:34717756
LongStitch: high-quality genome assembly correction and scaffolding using long reads.
PMID:34717540
The limits of personalization in precision medicine: Polygenic risk scores and racial categorization in a precision breast cancer screening trial.
PMID:34714858
β1-receptor polymorphisms and junctional ectopic tachycardia in children after cardiac surgery.
PMID:34713976
Derivation and Validation of Genome-Wide Polygenic Score for Ischemic Heart Failure.
PMID:34713709
Five Crucial Challenges in Digital Health.
PMID:34713029
Polygenic Risk Scores in Alzheimer's Disease: Current Applications and Future Directions.
PMID:34713027
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci.
PMID:34711957
TKGWV2: an ancient DNA relatedness pipeline for ultra-low coverage whole genome shotgun data.
PMID:34711884
BAMboozle removes genetic variation from human sequence data for open data sharing.
PMID:34711808
Gene-Level Germline Contributions to Clinical Risk of Recurrence Scores in Black and White Patients with Breast Cancer.
PMID:34711612
A spotter's guide to SNPtic exons: The common splice variants underlying some SNP-phenotype correlations.
PMID:34708937
Genetic Risk Prediction of COVID-19 Susceptibility and Severity in the Indian Population.
PMID:34707636
Associations between age of menarche and genetic variation in women of African descent: genome-wide association study and polygenic score analysis.
PMID:34706928
Evaluation of a custom QIAseq targeted DNA panel with 164 ancestry informative markers sequenced with the Illumina MiSeq.
PMID:34702940
Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation.
PMID:34702931
Analysis of whole exome sequencing in severe mental illness hints at selection of brain development and immune related genes.
PMID:34702870
Chromatin accessibility and gene expression during adipocyte differentiation identify context-dependent effects at cardiometabolic GWAS loci.
PMID:34699533
Efficient Pairwise Neuroimage Analysis Using the Soft Jaccard Index and 3D Keypoint Sets.
PMID:34699353
Identification of novel genome-wide pleiotropic associations with oral inflammatory traits.
PMID:34694461
Feasibility of Droplet Digital PCR Analysis of Plasma Cell-Free DNA From Kidney Transplant Patients.
PMID:34692738
HMG-Coenzyme A Reductase as a Drug Target for the Prevention of Ankylosing Spondylitis.
PMID:34692687
Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2.
PMID:34691159
The flashfm approach for fine-mapping multiple quantitative traits.
PMID:34686674
HLA-G 14bp Ins/Del Polymorphism in the 3'UTR Region and Acute Rejection in Kidney Transplant Recipients: An Updated Meta-Analysis.
PMID:34684043
Evaluating the Impact of Sex-Biased Genetic Admixture in the Americas through the Analysis of Haplotype Data.
PMID:34680976
Evaluation of Genotype-Based Gene Expression Model Performance: A Cross-Framework and Cross-Dataset Study.
PMID:34680927
Risk Allele Frequency Analysis of Single-Nucleotide Polymorphisms for Vitamin D Concentrations in Different Ethnic Group.
PMID:34680925
GWAS Meta-Analysis Reveals Shared Genes and Biological Pathways between Major Depressive Disorder and Insomnia.
PMID:34680902
Relationships of Ischemic Stroke Occurrence and Outcome with Gene Variants Encoding Enzymes of Tryptophan Metabolism.
PMID:34680558
Development and Validation of Targeted Gene Sequencing Panel Based Companion Diagnostic for Korean Patients with Solid Tumors.
PMID:34680263
Putative Role of MCT1 rs1049434 Polymorphism in High-Intensity Endurance Performance: Concept and Basis to Understand Possible Individualization Stimulus.
PMID:34678924
Validation of lipid-related therapeutic targets for coronary heart disease prevention using human genetics.
PMID:34675202
Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.
PMID:34674729
The performance of common SNP arrays in assigning African mitochondrial haplogroups.
PMID:34674637
Inbreeding, Native American ancestry and child mortality: linking human selection and paediatric medicine.
PMID:34673976
Estimation of regional polygenicity from GWAS provides insights into the genetic architecture of complex traits.
PMID:34673766
Robust estimates of heritable coronary disease risk in individuals with type 2 diabetes.
PMID:34672391
Computational Inference, Validation, and Analysis of 5'UTR-Leader Sequences of Alleles of Immunoglobulin Heavy Chain Variable Genes.
PMID:34671351
webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association study.
PMID:34669946
Leveraging auxiliary data from arbitrary distributions to boost GWAS discovery with Flexible cFDR.
PMID:34669738
Use of the PsycheMERGE Network to Investigate the Association Between Depression Polygenic Scores and White Blood Cell Count.
PMID:34668925
Genetic Profile of Endotoxemia Reveals an Association With Thromboembolism and Stroke.
PMID:34668383
Replication of LZTFL1 Gene Region as a Susceptibility Locus for COVID-19 in Latvian Population.
PMID:34668132
PopHumanVar: an interactive application for the functional characterization and prioritization of adaptive genomic variants in humans.
PMID:34664660
Rare variant association study of veteran twin whole-genomes links severe depression with a nonsynonymous change in the neuronal gene BHLHE22.
PMID:34664540
Dissecting single-cell genomes through the clonal organoid technique.
PMID:34663940
Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence.
PMID:34663923
Incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets.
PMID:34663819
Exome sequencing and analysis of 454,787 UK Biobank participants.
PMID:34662886
Detection of Neanderthal Adaptively Introgressed Genetic Variants That Modulate Reporter Gene Expression in Human Immune Cells.
PMID:34662402
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
PMID:34662339
From GWAS to Gene: Transcriptome-Wide Association Studies and Other Methods to Functionally Understand GWAS Discoveries.
PMID:34659337
A novel computational strategy to predict the value of the evidence in the SNP-based forensic mixtures.
PMID:34653182
Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.
PMID:34652573
The Impact of Ethnicity and Genetic Ancestry on Disease Prevalence and Risk in Colombia.
PMID:34650589
Benchmarking sequencing methods and tools that facilitate the study of alternative polyadenylation.
PMID:34649612
Prioritization of regulatory variants with tissue-specific function in the non-coding regions of human genome.
PMID:34648033
Ancestral Spectrum Analysis With Population-Specific Variants.
PMID:34646302
Chromosome X-wide Analysis of Positive Selection in Human Populations: Common and Private Signals of Selection and its Impact on Inactivated Genes and Enhancers.
PMID:34646300
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
PMID:34645491
TIGER: The gene expression regulatory variation landscape of human pancreatic islets.
PMID:34644572
The population genetics characteristics of a 90 locus panel of microhaplotypes.
PMID:34643790
Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance.
PMID:34643647
A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program.
PMID:34642702
Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes.
PMID:34642339
Estimation of cell-free fetal DNA fraction from maternal plasma based on linkage disequilibrium information.
PMID:34642337
The genomic landscape of Mexican Indigenous populations brings insights into the peopling of the Americas.
PMID:34642312
Hyperspectral Image Classification Using Deep Genome Graph-Based Approach.
PMID:34640786
Alpha-1 Antitrypsin and Hepatocellular Carcinoma in Liver Cirrhosis: SERPINA1 MZ or MS Genotype Carriage Decreases the Risk.
PMID:34638908
GATA2 deficiency phenotype associated with tandem duplication of GATA2 and overexpression of GATA2-AS1.
PMID:34638133
Malaria, COVID-19 and angiotensin-converting enzyme 2: what does the available population data say?
PMID:34637655
Decreased recent adaptation at human mendelian disease genes as a possible consequence of interference between advantageous and deleterious variants.
PMID:34636724
Sex-specific effects of polygenic risk for schizophrenia on lifespan cognitive functioning in healthy individuals.
PMID:34635642
A Low-Producing Haplotype of Interleukin-6 Disrupting CTCF Binding Is Protective against Severe COVID-19.
PMID:34634929
UNMASC: tumor-only variant calling with unmatched normal controls.
PMID:34632388
Genomics in medicine: A new era in medicine.
PMID:34631481
Indigenous Ancestry and Admixture in the Uruguayan Population.
PMID:34630523
Assessment of Imputation Quality: Comparison of Phasing and Imputation Algorithms in Real Data.
PMID:34630519
Tracing the Distribution of European Lactase Persistence Genotypes Along the Americas.
PMID:34630506
Exome Sequencing of Pancreatic Acinar Carcinoma Identified Distinctive Mutation Patterns.
PMID:34629449
Influence of polygenic risk scores for schizophrenia and resilience on the cognition of individuals at-risk for psychosis.
PMID:34628483
Comparison of sequencing data processing pipelines and application to underrepresented African human populations.
PMID:34627144
Detecting Selection in Multiple Populations by Modeling Ancestral Admixture Components.
PMID:34626111
Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482.
PMID:34625056
HIF-1α Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions.
PMID:34621299
Genetic Link Determining the Maternal-Fetal Circulation of Vitamin D.
PMID:34621292
A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo.
PMID:34620984
A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene.
PMID:34619763
Fine-mapping of Parkinson's disease susceptibility loci identifies putative causal variants.
PMID:34617105
CoMM-S4: A Collaborative Mixed Model Using Summary-Level eQTL and GWAS Datasets in Transcriptome-Wide Association Studies.
PMID:34616426
Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.
PMID:34615865
Genetic liability for substance use associated with medical comorbidities in electronic health records of African- and European-ancestry individuals.
PMID:34611967
A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response.
PMID:34611364
Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis.
PMID:34611289
A sex-specific evolutionary interaction between ADCY9 and CETP.
PMID:34609279
Single molecule characterization of the binding kinetics of a transcription factor and its modulation by DNA sequence and methylation.
PMID:34606618
Beyond GWAS: from simple associations to functional insights.
PMID:34605948
Parallel functional testing identifies enhancers active in early postnatal mouse brain.
PMID:34605404
Genetic Variants of CLPP and M1AP Are Associated With Risk of Non-Small Cell Lung Cancer.
PMID:34604049
A Role of Variance in Interferon Genes to Disease Severity in COVID-19 Patients.
PMID:34603376
Privacy-preserving storage of sequenced genomic data.
PMID:34600465
Dietary, Cultural, and Pathogens-Related Selective Pressures Shaped Differential Adaptive Evolution among Native Mexican Populations.
PMID:34597392
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality.
PMID:34597274
Multi-phenotype genome-wide association studies of the Norfolk Island isolate implicate pleiotropic loci involved in chronic kidney disease.
PMID:34593906
A genome-wide association study identifies a novel candidate locus at the DLGAP1 gene with susceptibility to resistant hypertension in the Japanese population.
PMID:34593835
Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2.
PMID:34590679
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.
PMID:34588515
Detecting selection in low-coverage high-throughput sequencing data using principal component analysis.
PMID:34587903
A more accurate method for colocalisation analysis allowing for multiple causal variants.
PMID:34587156
Evaluating the estimation of genetic correlation and heritability using summary statistics.
PMID:34586498
Contribution of rare variant associations to neurodegenerative disease presentation.
PMID:34584092
Genome-wide Association Study Identifies 2 New Loci Associated With Anti-NMDAR Encephalitis.
PMID:34584012
An integrated approach to identify environmental modulators of genetic risk factors for complex traits.
PMID:34582792
Regulatory variants at 2q33.1 confer schizophrenia risk by modulating distal gene TYW5 expression.
PMID:34581804
Environmental Influences Measured by Epigenetic Clock and Vulnerability Components at Birth Impact Clinical ASD Heterogeneity.
PMID:34573415
Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
PMID:34573371
Distinct gene-set burden patterns underlie common generalized and focal epilepsies.
PMID:34571366
GRAFIMO: Variant and haplotype aware motif scanning on pangenome graphs.
PMID:34570769
A signature of Neanderthal introgression on molecular mechanisms of environmental responses.
PMID:34570765
VannoPortal: multiscale functional annotation of human genetic variants for interrogating molecular mechanism of traits and diseases.
PMID:34570217
NR3C2 genotype is associated with response to spironolactone in diastolic heart failure patients from the Aldo-DHF trial.
PMID:34569641
Gender and the Sex Hormone Estradiol Affect Multiple Sclerosis Risk Gene Expression in Epstein-Barr Virus-Infected B Cells.
PMID:34566997
What's Wrong in a Jump? Prediction and Validation of Splice Site Variants.
PMID:34564308
Genetic and demographic predisposing factors associated with pediatric sleepwalking in the Philadelphia Neurodevelopmental Cohort.
PMID:34563919
Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci.
PMID:34563268
Controlling for human population stratification in rare variant association studies.
PMID:34561511
The origin and legacy of the Etruscans through a 2000-year archeogenomic time transect.
PMID:34559560
Suicide and Psychosis: Results From a Population-Based Cohort of Suicide Death (N = 4380).
PMID:34559220
Protein-coding repeat polymorphisms strongly shape diverse human phenotypes.
PMID:34554798
Adolescent cannabis use and adult psychoticism: A longitudinal co-twin control analysis using data from two cohorts.
PMID:34553951
Common host variation drives malaria parasite fitness in healthy human red cells.
PMID:34553687
Genetic demultiplexing of pooled single-cell RNA-sequencing samples in cancer facilitates effective experimental design.
PMID:34553212
Admixture with indigenous people helps local adaptation: admixture-enabled selection in Polynesians.
PMID:34551727
Polygenic Risk Scores for Kidney Function and Their Associations with Circulating Proteome, and Incident Kidney Diseases.
PMID:34548389
Comprehensive molecular characterization of pediatric radiation-induced high-grade glioma.
PMID:34545084
Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.
PMID:34544414
Association between the FTO rs9939609 single nucleotide polymorphism and dietary adherence during a 2-year caloric restriction intervention: Exploratory analyses from CALERIE™ phase 2.
PMID:34543722
Identifying causal variants by fine mapping across multiple studies.
PMID:34543273
Improving rigor and reproducibility in nonhuman primate research.
PMID:34541703
Association of Genetic Variants With Body-Mass Index and Blood Pressure in Adolescents: A Replication Study.
PMID:34539733
Biomarkers of kidney function and cognitive ability: A Mendelian randomization study.
PMID:34534883
Proteogenomic characterization of pancreatic ductal adenocarcinoma.
PMID:34534465
Genome-wide functional screen of 3'UTR variants uncovers causal variants for human disease and evolution.
PMID:34534445
Polygenetic risk scores do not add predictive power to clinical models for response to anti-TNFα therapy in inflammatory bowel disease.
PMID:34534227
Ancient genomics reveals tripartite origins of Japanese populations.
PMID:34533991
The Y chromosome and its use in forensic DNA analysis.
PMID:34533187
Using host genetics to infer the global spread and evolutionary history of HCV subtype 3a.
PMID:34532064
Polygenic Heterogeneity Across Obsessive-Compulsive Disorder Subgroups Defined by a Comorbid Diagnosis.
PMID:34531895
Identification of tissue-specific and common methylation quantitative trait loci in healthy individuals using MAGAR.
PMID:34530905
A comprehensive integrated post-GWAS analysis of Type 1 diabetes reveals enhancer-based immune dysregulation.
PMID:34529725
Clinical Relevance of Gastroesophageal Cancer Associated SNPs for Oncologic Outcome After Curative Surgery.
PMID:34529172
Local adaptation and archaic introgression shape global diversity at human structural variant loci.
PMID:34528508
Long Non-Coding RNAs as Potential Diagnostic and Prognostic Biomarkers in Breast Cancer: Progress and Prospects.
PMID:34527584
A case-control study of a combination of single nucleotide polymorphisms and clinical parameters to predict clinically relevant toxicity associated with fluoropyrimidine and platinum-based chemotherapy in gastric cancer.
PMID:34525956
RARG variant predictive of doxorubicin-induced cardiotoxicity identifies a cardioprotective therapy.
PMID:34525346
Genetic variation in genes regulating skeletal muscle regeneration and tissue remodelling associated with weight loss in chronic obstructive pulmonary disease.
PMID:34523824
Replicate whole-genome next-generation sequencing data derived from Caucasian donor saliva samples.
PMID:34522736
Parental relatedness through time revealed by runs of homozygosity in ancient DNA.
PMID:34521843
Sweat-gland carcinoma with neuroendocrine differentiation (SCAND): a clinicopathologic study of 13 cases with genetic analysis.
PMID:34518631
Low-viscosity matrix suspension culture enables scalable analysis of patient-derived organoids and tumoroids from the large intestine.
PMID:34518628
Rare variants in the endocytic pathway are associated with Alzheimer's disease, its related phenotypes, and functional consequences.
PMID:34516545
Exome Sequencing of 5 Families with Severe Early-Onset Periodontitis.
PMID:34515563
Inhibition of MET Signaling with Ficlatuzumab in Combination with Chemotherapy in Refractory AML: Clinical Outcomes and High-Dimensional Analysis.
PMID:34514432
Primary Ciliary Dyskinesia: Ancestral Haplotypes Analysis of the RSPH4A Founder Mutation in Puerto Rico.
PMID:34513534
Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
PMID:34510628
Scalable analysis of multi-modal biomedical data.
PMID:34508579
Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing.
PMID:34504347
Single-nuclei chromatin profiling of ventral midbrain reveals cell identity transcription factors and cell-type-specific gene regulatory variation.
PMID:34503558
The Microenvironment of Small Intestinal Neuroendocrine Tumours Contains Lymphocytes Capable of Recognition and Activation after Expansion.
PMID:34503115
Intracellular Accumulation of IFN-λ4 Induces ER Stress and Results in Anti-Cirrhotic but Pro-HCV Effects.
PMID:34497603
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.
PMID:34494102
A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease.
PMID:34493870
Genotypes of informative loci from 1000 Genomes data allude evolution and mixing of human populations.
PMID:34493766
Different historical generation intervals in human populations inferred from Neanderthal fragment lengths and mutation signatures.
PMID:34493715
Increased risk of severe clinical course of COVID-19 in carriers of HLA-C*04:01.
PMID:34490415
Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers.
PMID:34490083
Prognostic value of polygenic risk scores for adults with psychosis.
PMID:34489608
The ChinaMAP reference panel for the accurate genotype imputation in Chinese populations.
PMID:34489580
Analysis of genetic and clinical factors associated with buprenorphine response.
PMID:34488071
Psi-Caller: A Lightweight Short Read-Based Variant Caller With High Speed and Accuracy.
PMID:34485311
Case Report: Identification of a Novel Homozygous Mutation in GPD1 Gene of a Chinese Child With Transient Infantile Hypertriglyceridemia.
PMID:34484308
Growth Differentiation Factor 15 Is Associated With Alzheimer's Disease Risk.
PMID:34484296
Projecting Ancient Ancestry in Modern-Day Arabians and Iranians: A Key Role of the Past Exposed Arabo-Persian Gulf on Human Migrations.
PMID:34480555
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.
PMID:34480478
Fast two-stage phasing of large-scale sequence data.
PMID:34478634
Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.
PMID:34478472
Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome.
PMID:34477286
Fast and Scalable Private Genotype Imputation Using Machine Learning and Partially Homomorphic Encryption.
PMID:34476144
The MCT1 gene Glu490Asp polymorphism (rs1049434) is associated with endurance athlete status, lower blood lactate accumulation and higher maximum oxygen uptake.
PMID:34475628
Genome-wide sequencing-based identification of methylation quantitative trait loci and their role in schizophrenia risk.
PMID:34475392
Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions.
PMID:34475377
A globally diverse reference alignment and panel for imputation of mitochondrial DNA variants.
PMID:34470617
Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption.
PMID:34469537
Trans-ethnic genome-wide association study of severe COVID-19.
PMID:34465887
A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.
PMID:34465723
Predictability of polygenic risk score for progression to dementia and its interaction with APOE ε4 in mild cognitive impairment.
PMID:34465370
A Positively Selected MAGEE2 LoF Allele Is Associated with Sexual Dimorphism in Human Brain Size and Shows Similar Phenotypes in Magee2 Null Mice.
PMID:34464968
Addiction-Associated Genetic Variants Implicate Brain Cell Type- and Region-Specific Cis-Regulatory Elements in Addiction Neurobiology.
PMID:34462306
The Propagation of Racial Disparities in Cardiovascular Genomics Research.
PMID:34461749
Multitrait GWAS to connect disease variants and biological mechanisms.
PMID:34460823
Discovery of Novel Host Molecular Factors Underlying HBV/HCV Infection.
PMID:34458256
VERTIcal Grid lOgistic regression with Confidence Intervals (VERTIGO-CI).
PMID:34457150
Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing.
PMID:34456975
Identification of BRCA2 Cis Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology.
PMID:34456966
Genome-Wide Meta-Analysis Identifies Two Novel Risk Loci for Epilepsy.
PMID:34456681
Evaluation of low-pass genome sequencing in polygenic risk score calculation for Parkinson's disease.
PMID:34454617
The PEMDAC phase 2 study of pembrolizumab and entinostat in patients with metastatic uveal melanoma.
PMID:34453044
The Origins and Future of Sentinel: An Early-Warning System for Pandemic Preemption and Response.
PMID:34452470
Privacy-preserving genotype imputation in a trusted execution environment.
PMID:34450045
Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.
PMID:34450027
Putative pathogen-selected polymorphisms in the PKLR gene are associated with mycobacterial susceptibility in Brazilian and African populations.
PMID:34449765
Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction.
PMID:34446935
Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer.
PMID:34442375
Development and Evaluation of the Ancestry Informative Marker Panel of the VISAGE Basic Tool.
PMID:34440458
Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability.
PMID:34440402
Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma.
PMID:34439371
Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients.
PMID:34439348
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
PMID:34435747
Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer.
PMID:34434896
The Interferon-Induced Transmembrane Protein 3 -rs12252 Allele May Predict COVID-19 Severity Among Ethnic Minorities.
PMID:34434219
Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.
PMID:34433815
Endometrial Tumors with MSI-H and dMMR Share a Similar Tumor Immune Microenvironment.
PMID:34429613
Type I interferon autoantibodies are associated with systemic immune alterations in patients with COVID-19.
PMID:34429372
The genetic structure of the Turkish population reveals high levels of variation and admixture.
PMID:34426522
Inferring genes that escape X-Chromosome inactivation reveals important contribution of variable escape genes to sex-biased diseases.
PMID:34426515
Genetically Predicted Glucose-Dependent Insulinotropic Polypeptide (GIP) Levels and Cardiovascular Disease Risk Are Driven by Distinct Causal Variants in the GIPR Region.
PMID:34426508
Integrative approach identifies SLC6A20 and CXCR6 as putative causal genes for the COVID-19 GWAS signal in the 3p21.31 locus.
PMID:34425859
Circulating TP53 mutations are associated with early tumor progression and poor survival in pancreatic cancer patients treated with FOLFIRINOX.
PMID:34422118
Multidimensional Approach Assessing the Role of Interleukin 1 Beta in Mesial Temporal Lobe Epilepsy.
PMID:34421794
Technological advances in cancer immunity: from immunogenomics to single-cell analysis and artificial intelligence.
PMID:34417437
Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome.
PMID:34417209
Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis.
PMID:34416157
VariantStore: an index for large-scale genomic variant search.
PMID:34412679
Comprehensive characterization of pharmacogenetic variants in TPMT and NUDT15 in children with acute lymphoblastic leukemia.
PMID:34412101
Patterns of genetic connectedness between modern and medieval Estonian genomes reveal the origins of a major ancestry component of the Finnish population.
PMID:34411538
Through 40,000 years of human presence in Southern Europe: the Italian case study.
PMID:34410492
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
PMID:34410491
Whole-Genome Sequencing of a 900-Year-Old Human Skeleton Supports Two Past Migration Events from the Russian Far East to Northern Japan.
PMID:34410389
X-CNV: genome-wide prediction of the pathogenicity of copy number variations.
PMID:34407882
POSTAR3: an updated platform for exploring post-transcriptional regulation coordinated by RNA-binding proteins.
PMID:34403477
Metabolic profiling of maternal serum of women at high-risk of spontaneous preterm birth using NMR and MGWAS approach.
PMID:34402867
RefRGim: an intelligent reference panel reconstruction method for genotype imputation with convolutional neural networks.
PMID:34402866
Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.
PMID:34395220
Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation.
PMID:34393998
Gene Expression Analysis in Three Posttraumatic Stress Disorder Cohorts Implicates Inflammation and Innate Immunity Pathways and Uncovers Shared Genetic Risk With Major Depressive Disorder.
PMID:34393704
Susceptibility loci and polygenic architecture highlight population specific and common genetic features in inguinal hernias: genetics in inguinal hernias.
PMID:34392144
HELLO: improved neural network architectures and methodologies for small variant calling.
PMID:34391391
Donor genetic variants in interleukin-6 and interleukin-6 receptor associate with biopsy-proven rejection following kidney transplantation.
PMID:34389747
Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences.
PMID:34389037
Developmental and temporal characteristics of clonal sperm mosaicism.
PMID:34388390
Inter-ethnic genetic variations and novel variant identification in the partial sequences of CYP2B6 gene in Pakistani population.
PMID:34386299
A strategy for building and using a human reference pangenome.
PMID:34386196
Population diversity of three variants of the SLC47A2 gene (MATE2-K transporter) in Mexican Mestizos and Native Americans.
PMID:34383246
Validation of Single Nucleotide Variant Assays for Human Leukocyte Antigen Haplotypes HLA-B*15:02 and HLA-A*31:01 Across Diverse Ancestral Backgrounds.
PMID:34381365
Genome-wide association study followed by trans-ancestry meta-analysis identify 17 new risk loci for schizophrenia.
PMID:34380480
Dissection of the impact of prioritized QTL-linked and -unlinked SNP markers on the accuracy of genomic selection1.
PMID:34380418
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility.
PMID:34379666
Ornithine decarboxylase (ODC1) gene variant (rs2302615) is associated with gastric cancer independently of Helicobacter pylori CagA serostatus.
PMID:34376808
The molecular basis, genetic control and pleiotropic effects of local gene co-expression.
PMID:34376650
The continuity of effect of schizophrenia polygenic risk score and patterns of cannabis use on transdiagnostic symptom dimensions at first-episode psychosis: findings from the EU-GEI study.
PMID:34376640
Genetic susceptibility to multiple sclerosis in African Americans.
PMID:34370753
JWES: a new pipeline for whole genome/exome sequence data processing, management, and gene-variant discovery, annotation, prediction, and genotyping.
PMID:34370400
False positive findings during genome-wide association studies with imputation: influence of allele frequency and imputation accuracy.
PMID:34368847
Shared genomic segment analysis in a large high-risk chronic lymphocytic leukemia pedigree implicates CXCR4 in inherited risk.
PMID:34368645
SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review.
PMID:34368330
Endothelin-1 axes in the framework of predictive, preventive and personalised (3P) medicine.
PMID:34367381
Contrasting Patterns of Gene Duplication, Relocation, and Selection Among Human Taste Genes.
PMID:34366662
Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia.
PMID:34362951
Minor Allele Frequencies and Molecular Pathways Differences for SNPs Associated with Amyotrophic Lateral Sclerosis in Subjects Participating in the UKBB and 1000 Genomes Project.
PMID:34362180
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
PMID:34360596
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
PMID:34359559
Liquid Biopsy Is a Promising Tool for Genetic Testing in Idiopathic Pulmonary Fibrosis.
PMID:34359285
Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer.
PMID:34357098
Transcriptome-Wide Association Study of Blood Cell Traits in African Ancestry and Hispanic/Latino Populations.
PMID:34356065
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.
PMID:34355505
Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals.
PMID:34355204
The genomic history of the Middle East.
PMID:34352227
PON1 Q192R is associated with high platelet reactivity with clopidogrel in patients undergoing elective neurointervention: A prospective single-center cohort study.
PMID:34351918
Ancient viral genomes reveal introduction of human pathogenic viruses into Mexico during the transatlantic slave trade.
PMID:34350829
A domain damage index to prioritizing the pathogenicity of missense variants.
PMID:34350656
A curated dataset of modern and ancient high-coverage shotgun human genomes.
PMID:34349118
Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma.
PMID:34348663
Using de novo assembly to identify structural variation of eight complex immune system gene regions.
PMID:34343164
Predicting disordered gambling across adolescence and young adulthood from polygenic contributions to Big 5 personality traits in a UK birth cohort.
PMID:34342067
Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection.
PMID:34341784
Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes.
PMID:34340684
Oxidized LDL-dependent pathway as new pathogenic trigger in arrhythmogenic cardiomyopathy.
PMID:34337880
The Associations of Polygenic Scores for Risky Behaviors and Parenting Behaviors with Adolescent Externalizing Problems.
PMID:34333687
Deletion of Gremlin-2 alters estrous cyclicity and disrupts female fertility in mice†.
PMID:34333627
Schizophrenia-associated variation at ZNF804A correlates with altered experience-dependent dynamics of sleep slow waves and spindles in healthy young adults.
PMID:34329479
Genetics of Cardiomyopathy: Clinical and Mechanistic Implications for Heart Failure.
PMID:34327881
Careful feature selection is key in classification of Alzheimer's disease patients based on whole-genome sequencing data.
PMID:34327330
The distribution of common-variant effect sizes.
PMID:34326547
Direct characterization of cis-regulatory elements and functional dissection of complex genetic associations using HCR-FlowFISH.
PMID:34326544
Identification of pleiotropy at the gene level between psychiatric disorders and related traits.
PMID:34326310
Circulating vitamin C concentration and risk of cancers: a Mendelian randomization study.
PMID:34325683
Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules.
PMID:34322384
Impact of Amerind ancestry and FADS genetic variation on omega-3 deficiency and cardiometabolic traits in Hispanic populations.
PMID:34321601
Negative linkage disequilibrium between amino acid changing variants reveals interference among deleterious mutations in the human genome.
PMID:34319975
A Novel Variant in APOB Gene Causes Extremely Low LDL-C Without Known Adverse Effects.
PMID:34317346
Recent ultra-rare inherited variants implicate new autism candidate risk genes.
PMID:34312540
Family based and case-control designs reveal an association of TFAP2A in nonsyndromic cleft lip only among Vietnamese population.
PMID:34310873
A fast and robust Bayesian nonparametric method for prediction of complex traits using summary statistics.
PMID:34310601
A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer.
PMID:34309201
Genetics Contributes to Concomitant Pathology and Clinical Presentation in Dementia with Lewy Bodies.
PMID:34308904
Estimation of polymorphisms in the drug-metabolizing enzyme, cytochrome P450 2C19 gene in six major ethnicities of Pakistan.
PMID:34308762
Cell type-specific and cross-population polygenic risk score analyses of MIR137 gene pathway in schizophrenia.
PMID:34308291
Genetically predicted serum vitamin D and COVID-19: a Mendelian randomisation study.
PMID:34308129
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
PMID:34308104
Association Analysis of Candidate Variants in Admixed Brazilian Patients With Genetic Generalized Epilepsies.
PMID:34306016
Relevance between COVID-19 and host genetics of immune response.
PMID:34305429
G6PD distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19.
PMID:34302047
Identifying individuals with high risk of Alzheimer's disease using polygenic risk scores.
PMID:34301930
The Genomic Landscape of a Restricted ALL Cohort from Patients Residing on the U.S./Mexico Border.
PMID:34299796
A Panel of rSNPs Demonstrating Allelic Asymmetry in Both ChIP-seq and RNA-seq Data and the Search for Their Phenotypic Outcomes through Analysis of DEGs.
PMID:34298860
Genomic Risk Prediction for Breast Cancer in Older Women.
PMID:34298747
Discovery of genomic variation across a generation.
PMID:34296264
Regulation of cardiovascular biology by microsomal epoxide hydrolase.
PMID:34295793
Using Y-chromosome capture enrichment to resolve haplogroup H2 shows new evidence for a two-path Neolithic expansion to Western Europe.
PMID:34294811
Quantifying the contribution of Neanderthal introgression to the heritability of complex traits.
PMID:34294692
Increased PD-1 Level in Severe Cervical Injury Is Associated With the Rare Programmed Cell Death 1 (PDCD1) rs36084323 A Allele in a Dominant Model.
PMID:34290992
The interactions between genetics and early childhood nutrition influence adult cardiometabolic risk factors.
PMID:34290306
Large palindromes on the primate X Chromosome are preserved by natural selection.
PMID:34290043
A fast Data-Driven method for genotype imputation, phasing, and local ancestry inference: MendelImpute.jl.
PMID:34289008
Postictal Psychosis in Epilepsy: A Clinicogenetic Study.
PMID:34288049
Polygenic risk score and risk of monoclonal B-cell lymphocytosis in caucasians and risk of chronic lymphocytic leukemia (CLL) in African Americans.
PMID:34285341
Genomic context of NTRK1/2/3 fusion-positive tumours from a large real-world population.
PMID:34285332
Implementation and implications for polygenic risk scores in healthcare.
PMID:34284826
Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.
PMID:34282249
Single Copy Oligonucleotide Fluorescence In Situ Hybridization Probe Design Platforms: Development, Application and Evaluation.
PMID:34281175
A spectral theory for Wright's inbreeding coefficients and related quantities.
PMID:34280184
Impact of Genetic Variation in Gene Regulatory Sequences: A Population Genomics Perspective.
PMID:34276769
Unhealthy Behaviours and Risk of Parkinson's Disease: A Mendelian Randomisation Study.
PMID:34275906
WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas.
PMID:34274970
Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB's role in oncogenesis.
PMID:34274969
Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.
PMID:34272381
An ancestral recombination graph of human, Neanderthal, and Denisovan genomes.
PMID:34272242
Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.
PMID:34271981
3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints.
PMID:34270679
Sugar-Sweetened Beverage Consumption May Modify Associations Between Genetic Variants in the CHREBP (Carbohydrate Responsive Element Binding Protein) Locus and HDL-C (High-Density Lipoprotein Cholesterol) and Triglyceride Concentrations.
PMID:34270325
Allele frequency differentiation at height-associated SNPs among continental human populations.
PMID:34267339
Haplotype-resolved germline and somatic alterations in renal medullary carcinomas.
PMID:34261517
Founder Reconstruction Enables Scalable and Seamless Pangenomic Analysis.
PMID:34260702
CNVIntegrate: the first multi-ethnic database for identifying copy number variations associated with cancer.
PMID:34259866
An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility.
PMID:34258505
Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.
PMID:34258273
Understanding three-dimensional chromatin organization in diploid genomes.
PMID:34257838
InTACT: An adaptive and powerful framework for joint-tissue transcriptome-wide association studies.
PMID:34255882
Next-Generation HLA Sequence Analysis Uncovers Shared Risk Alleles Between Clinically Distinct Forms of Childhood Uveitis.
PMID:34254975
An Extended Admixture Pulse Model Reveals the Limitations to Human-Neandertal Introgression Dating.
PMID:34254144
The 2021 update of the EPA's adverse outcome pathway database.
PMID:34253739
Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs.
PMID:34253730
Haplotype-based membership inference from summary genomic data.
PMID:34252973
Constructing small genome graphs via string compression.
PMID:34252955
Advancing admixture graph estimation via maximum likelihood network orientation.
PMID:34252951
A variant selection framework for genome graphs.
PMID:34252945
Whole genome sequencing identifies novel structural variant in a large Indian family affected with X-linked agammaglobulinemia.
PMID:34252140
STAT3 polymorphisms in North Africa and its implication in breast cancer.
PMID:34251094
Health equality, race and pharmacogenomics.
PMID:34251046
A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1.
PMID:34249922
A novel transcriptional risk score for risk prediction of complex human diseases.
PMID:34245595
Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats.
PMID:34244228
Evaluation of serverless computing for scalable execution of a joint variant calling workflow.
PMID:34242357
An Integrative Genomic Strategy Identifies sRAGE as a Causal and Protective Biomarker of Lung Function.
PMID:34237330
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios.
PMID:34234805
Weak Association Between the Glutamate Decarboxylase 1 Gene (GAD1) and Schizophrenia in Han Chinese Population.
PMID:34234640
The first insight into the genetic structure of the population of modern Serbia.
PMID:34234178
Integrative analysis of genomic and epigenomic data reveal underlying superenhancer-mediated microRNA regulatory network for human bone mineral density.
PMID:34230965
Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection.
PMID:34230933
Characterizing the Genetic Architecture of Parkinson's Disease in Latinos.
PMID:34227697
Polygenic risk scoring to assess genetic overlap and protective factors influencing posttraumatic stress, depression, and chronic pain after motor vehicle collision trauma.
PMID:34226500
Shared genetic architecture between neuroticism, coronary artery disease and cardiovascular risk factors.
PMID:34226488
An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.
PMID:34224328
Cooperative Studies Program (CSP) #572: A Study of Serious Mental Illness in Veterans as a Pathway to personalized medicine in Schizophrenia and Bipolar Illness.
PMID:34222732
Analysis of genetic selection at insulin receptor substrate-2 gene loci.
PMID:34222068
DNA Repair Gene Polymorphisms and Chromosomal Aberrations in Exposed Populations.
PMID:34220964
Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants.
PMID:34220960
APP, PSEN1, and PSEN2 Variants in Alzheimer's Disease: Systematic Re-evaluation According to ACMG Guidelines.
PMID:34220489
Genetic ancestry differences in pediatric asthma readmission are mediated by socioenvironmental factors.
PMID:34217757
Admixture mapping reveals the association between Native American ancestry at 3q13.11 and reduced risk of Alzheimer's disease in Caribbean Hispanics.
PMID:34217363
Targeted long-read sequencing identifies missing disease-causing variation.
PMID:34216551
Genetic susceptibility to acute graft versus host disease in pediatric patients undergoing HSCT.
PMID:34215854
Shifting landscapes of human MTHFR missense-variant effects.
PMID:34214447
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
PMID:34212438
Patterns of brain asymmetry associated with polygenic risks for autism and schizophrenia implicate language and executive functions but not brain masculinization.
PMID:34211121
Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia.
PMID:34210339
How a Paleogenomic Approach Can Provide Details on Bioarchaeological Reconstruction: A Case Study from the Globular Amphorae Culture.
PMID:34208224
Analysis of Relationships between Immune Checkpoint and Methylase Gene Polymorphisms and Outcomes after Unrelated Bone Marrow Transplantation.
PMID:34206082
Genetic Interactions with Intrauterine Diabetes Exposure in Relation to Obesity: The EPOCH and Project Viva Studies.
PMID:34205853
Genetic Ancestry Inference and Its Application for the Genetic Mapping of Human Diseases.
PMID:34203440
Integrative Analysis of Next-Generation Sequencing for Next-Generation Cancer Research toward Artificial Intelligence.
PMID:34202427
Genomics of Gulf War Illness in U.S. Veterans Who Served during the 1990-1991 Persian Gulf War: Methods and Rationale for Veterans Affairs Cooperative Study #2006.
PMID:34202057
The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.
PMID:34200226
Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure.
PMID:34199109
GWAS in Africans identifies novel lipids loci and demonstrates heterogenous association within Africa.
PMID:34196372
Genetic mapping of developmental trajectories for complex traits and diseases.
PMID:34194671
Tone and genes: New cross-linguistic data and methods support the weak negative effect of the "derived" allele of ASPM on tone, but not of Microcephalin.
PMID:34191836
Mendelian randomization analysis of arsenic metabolism and pulmonary function within the Hispanic Community Health Study/Study of Latinos.
PMID:34188144
The effect of protein mutations on drug binding suggests ensuing personalised drug selection.
PMID:34188094
Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging.
PMID:34187551
Genomewide Association Studies in Pharmacogenomics.
PMID:34185318
Cohort profile: the Westlake BioBank for Chinese (WBBC) pilot project.
PMID:34183340
Transcript annotation tool (TransAT): an R package for retrieving annotations for transcript-specific genetic variants.
PMID:34182919
Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients.
PMID:34180972
Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans.
PMID:34179866
Influence of APOE locus on poor prognosis of COVID-19.
PMID:34179542
Association of Autism Spectrum Disorder, Neuroticism, and Subjective Well-Being With Cardiovascular Diseases: A Two-Sample Mendelian Randomization Study.
PMID:34179139
Polymorphic genetic markers and how they are associated with clinical and metabolic indicators of type 2 diabetes mellitus in the Kazakh population.
PMID:34178825
Whole-Exome Sequencing Analysis of Human Semen Quality in Russian Multiethnic Population.
PMID:34178030
Instrumental Heterogeneity in Sex-Specific Two-Sample Mendelian Randomization: Empirical Results From the Relationship Between Anthropometric Traits and Breast/Prostate Cancer.
PMID:34178025
IL-33 Gene Polymorphisms as Potential Biomarkers of Disease Susceptibility and Response to TNF Inhibitors in Rheumatoid Arthritis, Ankylosing Spondylitis, and Psoriatic Arthritis Patients.
PMID:34177886
A Genome-Wide Association Study and Polygenic Risk Score Analysis of Posttraumatic Stress Disorder and Metabolic Syndrome in a South African Population.
PMID:34177453
An association of ABCG8: rs11887534 polymorphism and HDL-cholesterol response to statin treatment in the Polish population.
PMID:34173968
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
PMID:34172528
An ancient viral epidemic involving host coronavirus interacting genes more than 20,000 years ago in East Asia.
PMID:34171302
Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene.
PMID:34170635
Evaluating Polygenic Risk Scores in "Lone" Atrial Fibrillation.
PMID:34169254
Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy.
PMID:34169208
Neurexin 1 variants as risk factors for suicide death.
PMID:34168285
Optimizing expression quantitative trait locus mapping workflows for single-cell studies.
PMID:34167583
Polymorphism rs7214723 in CAMKK1: a new genetic variant associated with cardiovascular diseases.
PMID:34165505
MutaFrame - an interpretative visualization framework for deleteriousness prediction of missense variants in the human exome.
PMID:34165491
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
PMID:34163037
Associations of Alcohol Consumption with Cardiovascular Disease-Related Proteomic Biomarkers: The Framingham Heart Study.
PMID:34159370
Frequent POLE-driven hypermutation in ovarian endometrioid cancer revealed by mutational signatures in RNA sequencing.
PMID:34158040
Summix: A method for detecting and adjusting for population structure in genetic summary data.
PMID:34157305
A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report.
PMID:34156493
Association of CXCR6 with COVID-19 severity: delineating the host genetic factors in transcriptomic regulation.
PMID:34155559
Circulating Fatty Acids Associated with Advanced Liver Fibrosis and Hepatocellular Carcinoma in South Texas Hispanics.
PMID:34155064
Identifying novel genetic variants for brain amyloid deposition: a genome-wide association study in the Korean population.
PMID:34154648
Genetic Admixture in the Culturally Unique Peranakan Chinese Population in Southeast Asia.
PMID:34152401
Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease.
PMID:34152079
Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.
PMID:34151536
Association of Vitamin D, Zinc and Selenium Related Genetic Variants With COVID-19 Disease Severity.
PMID:34150833
High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing.
PMID:34149797
Identification of sixteen novel candidate genes for late onset Parkinson's disease.
PMID:34148545
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
PMID:34145886
Human intelectin-1 (ITLN1) genetic variation and intestinal expression.
PMID:34145348
Identification of Missense Extracellular Matrix Gene Variants in a Large Glaucoma Pedigree and Investigation of the N700S Thrombospondin-1 Variant in Normal and Glaucomatous Trabecular Meshwork Cells.
PMID:34143713
Pharmacogenomic landscape of COVID-19 therapies from Indian population genomes.
PMID:34142560
Common genetic variation in circadian clock genes are associated with cardiovascular risk factors in an African American and Hispanic/Latino cohort.
PMID:34141862
How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data.
PMID:34141720
Statistical methods for mediation analysis in the era of high-throughput genomics: Current successes and future challenges.
PMID:34141140
Resource profile and user guide of the Polygenic Index Repository.
PMID:34140656
A comparison of genotyping arrays.
PMID:34140649
Common genetic variation influencing human white matter microstructure.
PMID:34140357
Discovery and Features of an Alkylating Signature in Colorectal Cancer.
PMID:34140290
Shifting epigenetic contexts influence regulatory variation and disease risk.
PMID:34138751
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.
PMID:34137518
LRRK2 Gene Variants Associated With a Higher Risk for Alcohol Dependence in Multiethnic Populations.
PMID:34135785
Identification of candidate gene variants of monogenic diabetes using targeted panel sequencing in early onset diabetes patients.
PMID:34135026
Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs.
PMID:34131746
Estimating genetic nurture with summary statistics of multigenerational genome-wide association studies.
PMID:34131076
Exome variant discrepancies due to reference-genome differences.
PMID:34129815
Inferring Population Histories for Ancient Genomes Using Genome-Wide Genealogies.
PMID:34129037
Performance of African-ancestry-specific polygenic hazard score varies according to local ancestry in 8q24.
PMID:34127801
Haplotype Shuffling and Dimorphic Transposable Elements in the Human Extended Major Histocompatibility Complex Class II Region.
PMID:34122517
Liver and Kidney Function Biomarkers, Blood Cell Traits and Risk of Severe COVID-19: A Mendelian Randomization Study.
PMID:34122505
Similar Genetic Architecture of Alzheimer's Disease and Differential APOE Effect Between Sexes.
PMID:34122051
Positive Effect of Cognitive Reserve on Episodic Memory, Executive and Attentional Functions Taking Into Account Amyloid-Beta, Tau, and Apolipoprotein E Status.
PMID:34122044
Positive natural selection of N6-methyladenosine on the RNAs of processed pseudogenes.
PMID:34120636
Cas9 targeted enrichment of mobile elements using nanopore sequencing.
PMID:34117247
Evidence of the interplay of genetics and culture in Ethiopia.
PMID:34117245
Shall genomic correlation structure be considered in copy number variants detection?
PMID:34114005
Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity.
PMID:34113375
Genome-wide association identifies the first risk loci for psychosis in Alzheimer disease.
PMID:34112972
Admixed Populations Improve Power for Variant Discovery and Portability in Genome-Wide Association Studies.
PMID:34108994
The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.
PMID:34108613
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
PMID:34108472
Genetic and morphological estimates of androgen exposure predict social deficits in multiple neurodevelopmental disorder cohorts.
PMID:34108004
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
PMID:34099642
Protocol for detecting introgressed archaic variants with SPrime.
PMID:34095864
Association Between Environmental Factors and Asthma Using Mendelian Randomization: Increased Effect of Body Mass Index on Adult-Onset Moderate-to-Severe Asthma Subtypes.
PMID:34093643
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
PMID:34087052
Pharmacogenomic considerations for repurposing of dexamethasone as a potential drug against SARS-CoV-2 infection.
PMID:34086487
Rapid genotype imputation from sequence with reference panels.
PMID:34083788
Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants.
PMID:34082700
Patterns of recent natural selection on genetic loci associated with sexually differentiated human body size and shape phenotypes.
PMID:34081690
Population dynamics of GC-changing mutations in humans and great apes.
PMID:34081117
Angiotensin System Polymorphisms' in SARS-CoV-2 Positive Patients: Assessment Between Symptomatic and Asymptomatic Patients: A Pilot Study.
PMID:34079337
Mendelian randomization studies of brain MRI yield insights into the pathogenesis of neuropsychiatric disorders.
PMID:34078268
Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.
PMID:34078172
Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer.
PMID:34075047
Advancing precision public health using human genomics: examples from the field and future research opportunities.
PMID:34074326
Genome-wide association analysis of metabolic syndrome quantitative traits in the GENNID multiethnic family study.
PMID:34074324
Genome Evolutionary Dynamics Meets Functional Genomics: A Case Story on the Identification of SLC25A44.
PMID:34073512
Identification of a Splice Variant (c.5074+3A>C) of BRCA1 by RNA Sequencing and TOPO Cloning.
PMID:34073420
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
PMID:34072463
The Genes of Freedom: Genome-Wide Insights into Marronage, Admixture and Ethnogenesis in the Gulf of Guinea.
PMID:34071462
Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants.
PMID:34069790
Making Sense of Genetic Information: The Promising Evolution of Clinical Stratification and Precision Oncology Using Machine Learning.
PMID:34065872
Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.
PMID:34064668
quickLD: An efficient software for linkage disequilibrium analyses.
PMID:34062051
The quagmire of race, genetic ancestry, and health disparities.
PMID:34060479
The trans-ancestral genomic architecture of glycemic traits.
PMID:34059833
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
PMID:34054914
Towards population-scale long-read sequencing.
PMID:34050336
The history and evolution of the Denisovan-EPAS1 haplotype in Tibetans.
PMID:34050022
Mergeomics 2.0: a web server for multi-omics data integration to elucidate disease networks and predict therapeutics.
PMID:34048577
snpXplorer: a web application to explore human SNP-associations and annotate SNP-sets.
PMID:34048563
Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys.
PMID:34047840
Assessing the functional relevance of splice isoforms.
PMID:34046593
MPRAdecoder: Processing of the Raw MPRA Data With a priori Unknown Sequences of the Region of Interest and Associated Barcodes.
PMID:34046055
Inferring Genome-Wide Correlations of Mutation Fitness Effects between Populations.
PMID:34043790
Effect of APOE and a polygenic risk score on incident dementia and cognitive decline in a healthy older population.
PMID:34041846
Polygenic Risk for Insomnia in Adolescents of Diverse Ancestry.
PMID:34040634
Impacts of the SOAT1 genetic variants and protein expression on HBV-related hepatocellular carcinoma.
PMID:34039309
Cataloguing experimentally confirmed 80.7 kb-long ACKR1 haplotypes from the 1000 Genomes Project database.
PMID:34039276
Predictive Performance of a Polygenic Risk Score for Incident Ischemic Stroke in a Healthy Older Population.
PMID:34039031
HuConTest: Testing Human Contamination in Great Ape Samples.
PMID:34038549
Association of FAAH p.Pro129Thr and COMT p.Ala72Ser with schizophrenia and comorbid substance use through next-generation sequencing: an exploratory analysis.
PMID:34037083
Epigenomic profiling of primate lymphoblastoid cell lines reveals the evolutionary patterns of epigenetic activities in gene regulatory architectures.
PMID:34035253
Detecting adaptive introgression in human evolution using convolutional neural networks.
PMID:34032215
Multimodally profiling memory T cells from a tuberculosis cohort identifies cell state associations with demographics, environment and disease.
PMID:34031617
An in-depth analysis of the mitochondrial phylogenetic landscape of Cambodia.
PMID:34031453
Challenges and Opportunities in Understanding Genetics of Fungal Diseases: Towards a Functional Genomics Approach.
PMID:34031131
Modulation of motor cortical excitability by continuous theta-burst stimulation in adults with autism spectrum disorder.
PMID:34030059
Our Tangled Family Tree: New Genomic Methods Offer Insight into the Legacy of Archaic Admixture.
PMID:34028527
Large-Scale Identification of Clonal Hematopoiesis and Mutations Recurrent in Blood Cancers.
PMID:34027416
Rare variants discovery by extensive whole-genome sequencing of the Han Chinese population in Taiwan: Applications to cardiovascular medicine.
PMID:34026292
High-Resolution Characterization of KIR Genes in a Large North American Cohort Reveals Novel Details of Structural and Sequence Diversity.
PMID:34025673
Single-Cell Epigenomics and Functional Fine-Mapping of Atherosclerosis GWAS Loci.
PMID:34024118
Genetic Origins and Sex-Biased Admixture of the Huis.
PMID:34021754
Downregulation by CNNM2 of ATP5MD expression in the 10q24.32 schizophrenia-associated locus involved in impaired ATP production and neurodevelopment.
PMID:34021155
Association between MTNR1B polymorphisms and obesity in African American: findings from the Jackson Heart Study.
PMID:34020621
Genome-wide association study of early-onset bipolar I disorder in the Han Taiwanese population.
PMID:34016946
Nonparametric coalescent inference of mutation spectrum history and demography.
PMID:34016747
WEScover: selection between clinical whole exome sequencing and gene panel testing.
PMID:34016036
A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity.
PMID:34015270
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
PMID:34015158
NGSremix: a software tool for estimating pairwise relatedness between admixed individuals from next-generation sequencing data.
PMID:34015083
Identification of genetic variations associated with drug resistance in non-small cell lung cancer patients undergoing systemic treatment.
PMID:34013324
Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders.
PMID:34009545
Diverse Molecular Mechanisms Contribute to Differential Expression of Human Duplicated Genes.
PMID:34009325
Associations of Hydroxysteroid 17-beta Dehydrogenase 13 Variants with Liver Histology in Chinese Patients with Metabolic-associated Fatty Liver Disease.
PMID:34007801
Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients.
PMID:34006333
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations.
PMID:34002374
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.
PMID:34002096
An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility.
PMID:34001247
Genome-wide copy number variations in a large cohort of bantu African children.
PMID:34001112
SEQUENTIAL IMPORTANCE SAMPLING FOR MULTIRESOLUTION KINGMAN-TAJIMA COALESCENT COUNTING.
PMID:33995755
MRPC: An R Package for Inference of Causal Graphs.
PMID:33995486
New insights into human immunity from ancient genomics.
PMID:33992907
Modeling regulatory network topology improves genome-wide analyses of complex human traits.
PMID:33990562
Cardiac cell type-specific gene regulatory programs and disease risk association.
PMID:33990324
Estimating heritability and its enrichment in tissue-specific gene sets in admixed populations.
PMID:33987664
Genetic Variations in Thiamin Transferase SLC35F3 and the Risk of Hypertension in Koreans.
PMID:33987140
re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files.
PMID:33987016
Genetic Overlap Between Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in SHANK2 Gene.
PMID:33986640
Kernel machine SNP set analysis finds the association of BUD13, ZPR1, and APOA5 variants with metabolic syndrome in Tehran Cardio-metabolic Genetics Study.
PMID:33986338
Glucocorticoid signaling in pancreatic islets modulates gene regulatory programs and genetic risk of type 2 diabetes.
PMID:33983929
3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies.
PMID:33983923
Molecular Genetic Basis of Hypertrophic Cardiomyopathy.
PMID:33983830
Mutational Signatures of Replication Timing and Epigenetic Modification Persist through the Global Divergence of Mutation Spectra across the Great Ape Phylogeny.
PMID:33983415
Gene4PD: A Comprehensive Genetic Database of Parkinson's Disease.
PMID:33981200
How imputation can mitigate SNP ascertainment Bias.
PMID:33980139
Swarm: A federated cloud framework for large-scale variant analysis.
PMID:33979321
MiR-3130-5p is an intermediate modulator of 2q33 and influences the invasiveness of lung adenocarcinoma by targeting NDUFS1.
PMID:33978320
Prioritization of Osteoporosis-Associated Genome-wide Association Study (GWAS) Single-Nucleotide Polymorphisms (SNPs) Using Epigenomics and Transcriptomics.
PMID:33977200
Genetic risk factors for colorectal cancer in multiethnic Indonesians.
PMID:33976257
Molecular evolution and the decline of purifying selection with age.
PMID:33976227
Comprehensive cell type decomposition of circulating cell-free DNA with CelFiE.
PMID:33976150
Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.
PMID:33974636
Modeling the Evolutionary Architectures of Transcribed Human Enhancer Sequences Reveals Distinct Origins, Functions, and Associations with Human Trait Variation.
PMID:33973014
Genoppi is an open-source software for robust and standardized integration of proteomic and genetic data.
PMID:33972534
Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.
PMID:33969176
Developmental Profile of Psychiatric Risk Associated With Voltage-Gated Cation Channel Activity.
PMID:33965196
Study of the collagen type VI alpha 3 (COL6A3) gene in Parkinson's disease.
PMID:33964895
Co-evolution of tumor and immune cells during progression of multiple myeloma.
PMID:33963182
scSNV: accurate dscRNA-seq SNV co-expression analysis using duplicate tag collapsing.
PMID:33962667
Chorus2: design of genome-scale oligonucleotide-based probes for fluorescence in situ hybridization.
PMID:33960617
Common genetic associations between age-related diseases.
PMID:33959723
Common Variants Associated With OSMR Expression Contribute to Carotid Plaque Vulnerability, but Not to Cardiovascular Disease in Humans.
PMID:33959646
Brain gene co-expression networks link complement signaling with convergent synaptic pathology in schizophrenia.
PMID:33958802
Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease.
PMID:33958783
Interplay between IL6 and CRIM1 in thiopurine intolerance due to hematological toxicity in leukemic patients with wild-type NUDT15 and TPMT.
PMID:33958640
Genetic meta-analysis of twin birth weight shows high genetic correlation with singleton birth weight.
PMID:33955455
Thrombotic microangiopathy in aHUS and beyond: clinical clues from complement genetics.
PMID:33953366
Integrative genomics analysis reveals a 21q22.11 locus contributing risk to COVID-19.
PMID:33949668
Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes.
PMID:33949662
Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants.
PMID:33948580
SLF1 polymorphism predicts response to oxaliplatin-based adjuvant chemotherapy in patients with colon cancer.
PMID:33948371
A resource to explore the discovery of rare diseases and their causative genes.
PMID:33947870
Multi-tissue neocortical transcriptome-wide association study implicates 8 genes across 6 genomic loci in Alzheimer's disease.
PMID:33947463
Detection of new drivers of frequent B-cell lymphoid neoplasms using an integrated analysis of whole genomes.
PMID:33945543
Evaluation of polygenic prediction methodology within a reference-standardized framework.
PMID:33945532
A versatile polypharmacology platform promotes cytoprotection and viability of human pluripotent and differentiated cells.
PMID:33941937
Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.
PMID:33941849
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders.
PMID:33937879
Transcriptome prediction performance across machine learning models and diverse ancestries.
PMID:33937878
Meta-Analyses of Splicing and Expression Quantitative Trait Loci Identified Susceptibility Genes of Glioma.
PMID:33936159
An Epigenetically Distinct Subset of Children With Autism Spectrum Disorder Resulting From Differences in Blood Cell Composition.
PMID:33935932
Disparities in COVID-19 severities and casualties across ethnic groups around the globe and patterns of ACE2 and PIR variants.
PMID:33933634
MARS: leveraging allelic heterogeneity to increase power of association testing.
PMID:33931127
Comprehensive Allele Genotyping in Critical Pharmacogenes Reduces Residual Clinical Risk in Diverse Populations.
PMID:33930192
The Need for a Human Pangenome Reference Sequence.
PMID:33929893
Assessment of a Polygenic Risk Score for Colorectal Cancer to Predict Risk of Lynch Syndrome Colorectal Cancer.
PMID:33928216
Investigation of triple-negative breast cancer risk alleles in an International African-enriched cohort.
PMID:33927264
New insights into hallux valgus by whole exome sequencing study.
PMID:33926255
Moderating Effects of BDNF Genetic Variants and Smoking on Cognition in PTSD Veterans.
PMID:33926045
The Role of Nonshivering Thermogenesis Genes on Leptin Levels Regulation in Residents of the Coldest Region of Siberia.
PMID:33925025
POLG Gene Variants in Cervical Cancer Patients and Their Associations with Clinical and Pathomorphological Tumor Characteristics.
PMID:33922707
The Role of Knockout Olfactory Receptor Genes in Odor Discrimination.
PMID:33922566
Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individuals.
PMID:33921825
Human Mitochondrial Control Region and mtGenome: Design and Forensic Validation of NGS Multiplexes, Sequencing and Analytical Software.
PMID:33921728
Next-Generation Sequencing Technologies and Neurogenetic Diseases.
PMID:33921670
A Single-Run Next-Generation Sequencing (NGS) Assay for the Simultaneous Detection of Both Gene Mutations and Large Chromosomal Abnormalities in Patients with Myelodysplastic Syndromes (MDS) and Related Myeloid Neoplasms.
PMID:33919541
Genetic Variants in Transcription Factor Binding Sites in Humans: Triggered by Natural Selection and Triggers of Diseases.
PMID:33919522
On the Unfounded Enthusiasm for Soft Selective Sweeps III: The Supervised Machine Learning Algorithm That Isn't.
PMID:33916341
A Novel Low-Risk Germline Variant in the SH2 Domain of the SRC Gene Affects Multiple Pathways in Familial Colorectal Cancer.
PMID:33916261
Self-reported sleep relates to microstructural hippocampal decline in ß-amyloid positive Adults beyond genetic risk.
PMID:33912975
A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder.
PMID:33912394
Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer.
PMID:33910608
Soluble CD14 Levels in the Jackson Heart Study: Associations With Cardiovascular Disease Risk and Genetic Variants.
PMID:33910371
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia.
PMID:33907316
Genome wide association study identifies four loci for early onset schizophrenia.
PMID:33907183
Reconstructing the Human Genetic History of Mainland Southeast Asia: Insights from Genome-Wide Data from Thailand and Laos.
PMID:33905512
Whole genome sequencing identifies variants associated with sarcoidosis in a family with a high prevalence of sarcoidosis.
PMID:33903979
Effect of four ABCB1 genetic polymorphisms on the accumulation of darunavir in HEK293 recombinant cell lines.
PMID:33903659
Linkage of Alzheimer disease families with Puerto Rican ancestry identifies a chromosome 9 locus.
PMID:33902942
Whole-genome sequencing of phenotypically distinct inflammatory breast cancers reveals similar genomic alterations to non-inflammatory breast cancers.
PMID:33902690
Genetically Determined Higher TSH Is Associated With a Lower Risk of Diabetes Mellitus in Individuals With Low BMI.
PMID:33901276
Virus-derived variation in diverse human genomes.
PMID:33901175
G6PD Polymorphisms and Hemolysis After Antimalarial Treatment With Low Single-Dose Primaquine: A Pooled Analysis of Six African Clinical Trials.
PMID:33897764
Immune Dysregulation in Human ITCH Deficiency Successfully Treated with Hematopoietic Cell Transplantation.
PMID:33894394
MutationTaster2021.
PMID:33893808
Genetic landscape of breast cancer and mutation tracking with circulating tumor DNA in Chinese women.
PMID:33893247
Cross-ancestry genome-wide association studies identified heterogeneous loci associated with differences of allele frequency and regulome tagging between participants of European descent and other ancestry groups from the UK Biobank.
PMID:33890984
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
PMID:33889545
System-Level Analysis of Alzheimer's Disease Prioritizes Candidate Genes for Neurodegeneration.
PMID:33889174
Radiation-related genomic profile of papillary thyroid carcinoma after the Chernobyl accident.
PMID:33888599
Novel recessive locus for body mass index in childhood asthma.
PMID:33888571
An atlas of the tissue and blood metagenome in cancer reveals novel links between bacteria, viruses and cancer.
PMID:33888160
Genetic analysis of 32 InDels in four ethnic minorities from Chinese Xinjiang.
PMID:33886624
The cis-regulatory effects of modern human-specific variants.
PMID:33885362
Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.
PMID:33884296
Genetic Risk Factors for CVD in Type 1 Diabetes: The DCCT/EDIC Study.
PMID:33883194
Integrative approach identifies SLC6A20 and CXCR6 as putative causal genes for the COVID-19 GWAS signal in the 3p21.31 locus.
PMID:33880488
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.
PMID:33880452
Variation of microRNA expression in the human placenta driven by population identity and sex of the newborn.
PMID:33879051
Integrated mutational landscape analysis of uterine leiomyosarcomas.
PMID:33876771
An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.
PMID:33875891
Germline variants at SOHLH2 influence multiple myeloma risk.
PMID:33875642
Evolutionary dynamics of the human pseudoautosomal regions.
PMID:33872316
Baseline cell proliferation rates and response to UV differ in lymphoblastoid cell lines derived from healthy individuals of extreme constitution types.
PMID:33870855
Genotype phenotype analysis in a family carrying truncating mutations in the titin gene.
PMID:33870097
GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases.
PMID:33868597
Association Between Variants in Calcineurin Inhibitor Pharmacokinetic and Pharmacodynamic Genes and Renal Dysfunction in Adult Heart Transplant Recipients.
PMID:33868389
Genetics Insight for COVID-19 Susceptibility and Severity: A Review.
PMID:33868239
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease.
PMID:33864768
Conserved long-range base pairings are associated with pre-mRNA processing of human genes.
PMID:33863890
Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing.
PMID:33860785
Tsukushi and TSKU genotype in obesity and related metabolic disorders.
PMID:33860453
Variable kinship patterns in Neolithic Anatolia revealed by ancient genomes.
PMID:33857427
Deep sequencing of DNA from urine of kidney allograft recipients to estimate donor/recipient-specific DNA fractions.
PMID:33857204
Development and Analytical Validation of a Targeted Next-Generation Sequencing Panel to Detect Actionable Mutations for Targeted Therapy.
PMID:33854338
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.
PMID:33851121
Association of common TMPRSS6 and TF gene variants with hepcidin and iron status in healthy rural Gambians.
PMID:33850216
Genome-wide characterization of human minisatellite VNTRs: population-specific alleles and gene expression differences.
PMID:33849068
Significant variants of type 2 diabetes in the Arabian Region through an Integration of exome databases.
PMID:33848288
A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non‑syndromic deafness 2A.
PMID:33846771
Genetic drift from the out-of-Africa bottleneck leads to biased estimation of genetic architecture and selection.
PMID:33846580
Human ACE2 receptor polymorphisms and altered susceptibility to SARS-CoV-2.
PMID:33846513
Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders.
PMID:33841501
Interferon-induced transmembrane protein-3 genetic variant rs12252 is associated with COVID-19 mortality.
PMID:33838280
Genomic Risk Score for Melanoma in a Prospective Study of Older Individuals.
PMID:33837773
Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data.
PMID:33837278
Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.
PMID:33836803
Long-read assembly of a Great Dane genome highlights the contribution of GC-rich sequence and mobile elements to canine genomes.
PMID:33836575
ActiveDriverDB: Interpreting Genetic Variation in Human and Cancer Genomes Using Post-translational Modification Sites and Signaling Networks (2021 Update).
PMID:33834021
Whole genome variation in 27 Mexican indigenous populations, demographic and biomedical insights.
PMID:33831079
GAMIBHEAR: whole-genome haplotype reconstruction from Genome Architecture Mapping data.
PMID:33830196
A Survey of Compound Heterozygous Variants in Pediatric Cancers and Structural Birth Defects.
PMID:33828584
Genetic substructure and complex demographic history of South African Bantu speakers.
PMID:33828095
Massive parallel sequencing in a family with rectal cancer.
PMID:33827643
An extended catalogue of tandem alternative splice sites in human tissue transcriptomes.
PMID:33826604
Genetic variability in COVID-19-related genes in the Brazilian population.
PMID:33824725
Variable number tandem repeats mediate the expression of proximal genes.
PMID:33824302
Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population.
PMID:33822938
Common genetic variants and pathways in diabetes and associated complications and vulnerability of populations with different ethnic origins.
PMID:33820928
Common Variants in the TMPRSS6 Gene Alter Hepcidin but not Plasma Iron in Response to Oral Iron in Healthy Gambian Adults: A Recall-by-Genotype Study.
PMID:33817543
Genetic evidence for a large overlap and potential bidirectional causal effects between resilience and well-being.
PMID:33816719
Low Diversity of Human Variation Despite Mostly Mild Functional Impact of De Novo Variants.
PMID:33816556
The Effect of Sodium Glucose Cotransporter 2 Inhibitors From a Human Genetic Perspective.
PMID:33815487
Detection of Genetic Overlap Between Rheumatoid Arthritis and Systemic Lupus Erythematosus Using GWAS Summary Statistics.
PMID:33815486
Deep generative models in DataSHIELD.
PMID:33812380
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).
PMID:33811480
Optimized sample selection for cost-efficient long-read population sequencing.
PMID:33811084
An Integrative Transcriptome-Wide Analysis of Amyotrophic Lateral Sclerosis for the Identification of Potential Genetic Markers and Drug Candidates.
PMID:33809961
Genetic Variants Allegedly Linked to Antisocial Behaviour Are Equally Distributed Across Different Populations.
PMID:33809805
Detection of Rare Germline Variants in the Genomes of Patients with B-Cell Neoplasms.
PMID:33809641
Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.
PMID:33809228
CFTR Cooperative Cis-Regulatory Elements in Intestinal Cells.
PMID:33807548
The Effect of FGF21 and Its Genetic Variants on Food and Drug Cravings, Adipokines and Metabolic Traits.
PMID:33805553
The Impact of Complement Genes on the Risk of Late-Onset Alzheimer's Disease.
PMID:33804666
Functional Characterisation of Three Glycine N-Acyltransferase Variants and the Effect on Glycine Conjugation to Benzoyl-CoA.
PMID:33803916
Excision Repair Cross-Complementation Group 6 Gene Polymorphism Is Associated with the Response to FOLFIRINOX Chemotherapy in Asian Patients with Pancreatic Cancer.
PMID:33801891
Searching the Dark Genome for Alzheimer's Disease Risk Variants.
PMID:33800766
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.
PMID:33799353
Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects.
PMID:33798553
Detecting local genetic correlations with scan statistics.
PMID:33795679
A novel age-informed approach for genetic association analysis in Alzheimer's disease.
PMID:33794991
HARVESTMAN: a framework for hierarchical feature learning and selection from whole genome sequencing data.
PMID:33794760
Alternative splicing of OAS1 alters the risk for severe COVID-19.
PMID:33791713
The genetic architecture of human complex phenotypes is modulated by linkage disequilibrium and heterozygosity.
PMID:33789345
A Polygenic Risk Score to Predict Future Adult Short Stature Among Children.
PMID:33788949
The timing of human adaptation from Neanderthal introgression.
PMID:33787889
Frequent somatic TET2 mutations in chronic NK-LGL leukemia with distinct patterns of cytopenias.
PMID:33786584
DNA methylation signatures in cord blood associated with birthweight are enriched for dmCpGs previously associated with maternal hypertension or pre-eclampsia, smoking and folic acid intake.
PMID:33784941
Sclerostin Downregulation Globally by Naturally Occurring Genetic Variants, or Locally in Atherosclerotic Plaques, Does Not Associate With Cardiovascular Events in Humans.
PMID:33784435
Discovery and fine-mapping of kidney function loci in first genome-wide association study in Africans.
PMID:33783510
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
PMID:33782605
Association of TLR2 haplotypes encoding Q650 with reduced susceptibility to ovine Johne's disease in Turkish sheep.
PMID:33782507
Genetic factors influencing a neurobiological substrate for psychiatric disorders.
PMID:33782385
Comprehensive identification of somatic nucleotide variants in human brain tissue.
PMID:33781308
Genetic Risk Stratification: A Paradigm Shift in Prevention of Coronary Artery Disease.
PMID:33778213
Influence of Disease-Causing Mutations on Protein Structural Networks.
PMID:33778000
Congenital dyserythropoietic anemia and drug-induced liver injury present as bland cholestasis: A case report.
PMID:33777192
A Novel Panel of 43 Insertion/Deletion Loci for Human Identifications of Forensic Degraded DNA Samples: Development and Validation.
PMID:33777093
A Genetic Risk Score Improves the Prediction of Type 2 Diabetes Mellitus in Mexican Youths but Has Lower Predictive Utility Compared With Non-Genetic Factors.
PMID:33776940
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
PMID:33773637
Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease.
PMID:33772158
Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities.
PMID:33772059
Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations.
PMID:33770507
A unified framework for cross-population trait prediction by leveraging the genetic correlation of polygenic traits.
PMID:33770506
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
PMID:33770142
A transcription-centric model of SNP-age interaction.
PMID:33770080
Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia.
PMID:33769430
Class II Human Leukocyte Antigen Variants Associate With Risk of Pegaspargase Hypersensitivity.
PMID:33768542
Potential Impact of DPYD Variation on Fluoropyrimidine Drug Response in sub-Saharan African Populations.
PMID:33767731
New susceptibility alleles associated with severe coronary artery stenosis in the Lebanese population.
PMID:33766035
Detecting sex-linked genes using genotyped individuals sampled in natural populations.
PMID:33764439
Leveraging Single-Cell RNA-seq Data to Uncover the Association Between Cell Type and Chronic Liver Diseases.
PMID:33763117
Whole Genome Interpretation for a Family of Five.
PMID:33763108
Should All Individuals Be Screened for Genetic Predisposition to Cancer?
PMID:33762893
A Fast Algorithm for Maximum Likelihood Estimation of Mixture Proportions Using Sequential Quadratic Programming.
PMID:33762803
Breast tumours maintain a reservoir of subclonal diversity during expansion.
PMID:33762732
Genetic association of ERAP1 and ERAP2 with eclampsia and preeclampsia in northeastern Brazilian women.
PMID:33762660
Clinical application of circulating tumor DNA in breast cancer.
PMID:33760943
Genome-wide association study of fish oil supplementation on lipid traits in 81,246 individuals reveals new gene-diet interaction loci.
PMID:33760818
The Genetic Variation of Lactase Persistence Alleles in Sudan and South Sudan.
PMID:33760047
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality.
PMID:33758887
Longitudinal single-cell epitope and RNA-sequencing reveals the immunological impact of type 1 interferon autoantibodies in critical COVID-19.
PMID:33758859
HICANCER: accurate and complete cancer genome phasing with Hi-C reads.
PMID:33758310
Origin and diffusion of human Y chromosome haplogroup J1-M267.
PMID:33758277
In-utero exposure to zidovudine-containing antiretroviral therapy and clonal hematopoiesis in HIV-exposed uninfected newborns.
PMID:33756513
Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia.
PMID:33756103
Y-LineageTracker: a high-throughput analysis framework for Y-chromosomal next-generation sequencing data.
PMID:33750289
Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause.
PMID:33750045
Advancing drug discovery using the power of the human genome.
PMID:33748968
Analysis workflow to assess de novo genetic variants from human whole-exome sequencing.
PMID:33748785
Identifying suicidal subtypes and dynamic indicators of increasing and decreasing suicide risk in active duty military personnel: Study protocol.
PMID:33748530
Mutational landscape and potential therapeutic targets for sporadic pancreatic neuroendocrine tumors based on target next-generation sequencing.
PMID:33747156
The vocal tract as a time machine: inferences about past speech and language from the anatomy of the speech organs.
PMID:33745306
Automatic inference of demographic parameters using generative adversarial networks.
PMID:33745225
Comparing low-pass sequencing and genotyping for trait mapping in pharmacogenetics.
PMID:33743587
Genetic-variant hotspots and hotspot clusters in the human genome facilitating adaptation while increasing instability.
PMID:33741065
The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects.
PMID:33740458
Mutations in spike protein and allele variations in ACE2 impact targeted therapy strategies against SARS-CoV-2.
PMID:33738989
Polygenic Risk Scores Differentiating Schizophrenia From Bipolar Disorder Are Associated With Premorbid Intelligence in Schizophrenia Patients and Healthy Subjects.
PMID:33738471
Impact of pre- and post-variant filtration strategies on imputation.
PMID:33737531
Genome-wide association study identifies new loci associated with risk of HBV infection and disease progression.
PMID:33736632
Boosting GWAS using biological networks: A study on susceptibility to familial breast cancer.
PMID:33735170
Association of HLA-DRB1*09:01 with severe COVID-19.
PMID:33734601
Clinicopathological and Molecular Analysis of 45 Cases of Pure Mucinous Breast Cancer.
PMID:33732635
Moving Toward Patient-Tailored Treatment in ALS and FTD: The Potential of Genomic Assessment as a Tool for Biological Discovery and Trial Recruitment.
PMID:33732107
Nuclear genome-wide associations with mitochondrial heteroplasmy.
PMID:33731350
Using multivariate endophenotypes to identify psychophysiological mechanisms associated with polygenic scores for substance use, schizophrenia, and education attainment.
PMID:33731234
Genetic risk scores for cardiometabolic traits in sub-Saharan African populations.
PMID:33729508
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor.
PMID:33728376
Genome-wide association study of serum prostate-specific antigen levels based on 1000 Genomes imputed data in Japanese: the Japan Multi-Institutional Collaborative Cohort Study.
PMID:33727749
Analysis of risk allele frequencies of single nucleotide polymorphisms related to open-angle glaucoma in different ethnic groups.
PMID:33726755
Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes : Analysis of a Turkish cohort.
PMID:33725141
Genetic Analysis of ZNF Protein Family Members for Early-Onset Parkinson's Disease in Chinese Population.
PMID:33723766
The genetic architecture of structural left-right asymmetry of the human brain.
PMID:33723403
The association between genetically determined ABO blood types and major depressive disorder.
PMID:33721783
Robust, flexible, and scalable tests for Hardy-Weinberg equilibrium across diverse ancestries.
PMID:33720349
Pinpointing the PRDM9-PRDM7 Gene Duplication Event During Primate Divergence.
PMID:33719332
Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.
PMID:33713608
The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm.
PMID:33713133
Global discovery of lupus genetic risk variant allelic enhancer activity.
PMID:33712590
The genetic history of Greenlandic-European contact.
PMID:33711251
Assessing the contribution of tumor mutational phenotypes to cancer progression risk.
PMID:33711014
Short loop functional commonality identified in leukaemia proteome highlights crucial protein sub-networks.
PMID:33709075
Characterizing a Common CERS2 Polymorphism in a Mouse Model of Metabolic Disease and in Subjects from the Utah CAD Study.
PMID:33705551
Genome-wide polygenic risk score for retinopathy of type 2 diabetes.
PMID:33704450
Including Vulnerable Populations in the Assessment of Data From Vulnerable Populations.
PMID:33693342
The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation.
PMID:33692830
Evaluation of a Custom SNP Panel for Identifying and Rectifying of Misjudged Paternity in Deficiency Cases.
PMID:33692823
Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer.
PMID:33692755
A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.
PMID:33691640
Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort.
PMID:33688582
A network algorithm for the X chromosomal exact test for Hardy-Weinberg equilibrium with multiple alleles.
PMID:33687797
The intermediary role of adolescent temperamental and behavioral traits on the prospective associations between polygenic risk and cannabis use among young adults of European Ancestry.
PMID:33686717
Identifying loci with different allele frequencies among cases of eight psychiatric disorders using CC-GWAS.
PMID:33686288
Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.
PMID:33686259
Genetic variation and microRNA targeting of A-to-I RNA editing fine tune human tissue transcriptomes.
PMID:33685485
Distinct error rates for reference and nonreference genotypes estimated by pedigree analysis.
PMID:33683359
Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series.
PMID:33680884
Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report.
PMID:33676444
X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis.
PMID:33675743
Nicotinic acetylcholine gene cluster CHRNA5-A3-B4 variants influence smoking status in a Bangladeshi population.
PMID:33675519
Healthy lifestyles, genetic modifiers, and colorectal cancer risk: a prospective cohort study in the UK Biobank.
PMID:33675346
Identifying Primate ACE2 Variants That Confer Resistance to SARS-CoV-2.
PMID:33674876
Genetics and Epigenetics in Asthma.
PMID:33673725
Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer.
PMID:33673279
Identification of Germline Genetic Variants that Increase Prostate Cancer Risk and Influence Development of Aggressive Disease.
PMID:33673083
Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.
PMID:33672345
APC Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome.
PMID:33670833
Inflammation-Related Risk Loci in Genome-Wide Association Studies of Coronary Artery Disease.
PMID:33669721
Common Treatment, Common Variant: Evolutionary Prediction of Functional Pharmacogenomic Variants.
PMID:33669176
Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years.
PMID:33667394
Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers.
PMID:33667223
Genes Regulating Spermatogenesis and Sperm Function Associated With Rare Disorders.
PMID:33665191
Genomic adaptations to cereal-based diets contribute to mitigate metabolic risk in some human populations of East Asian ancestry.
PMID:33664777
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics.
PMID:33664507
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families.
PMID:33664247
Genome-wide epistasis analysis for Alzheimer's disease and implications for genetic risk prediction.
PMID:33663605
Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations.
PMID:33661925
Changes in the fine-scale genetic structure of Finland through the 20th century.
PMID:33661898
A scalable unified framework of total and allele-specific counts for cis-QTL, fine-mapping, and prediction.
PMID:33658504
Elevated cerebrospinal fluid cytokine levels in tuberculous meningitis predict survival in response to dexamethasone.
PMID:33658385
Discordant clinical features of identical hypertrophic cardiomyopathy twins.
PMID:33658374
Molecular signatures of selection on the human GLI3 associated central nervous system specific enhancers.
PMID:33655411
A catalog of associations between rare coding variants and COVID-19 outcomes.
PMID:33655273
Identification of candidate genes and pathways in retinopathy of prematurity by whole exome sequencing of preterm infants enriched in phenotypic extremes.
PMID:33654115
Ethnic and trans-ethnic genome-wide association studies identify new loci influencing Japanese Alzheimer's disease risk.
PMID:33654092
vcf2fhir: a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration.
PMID:33653260
Worldwide variation of the COL14A1 gene is shaped by genetic drift rather than selective pressure.
PMID:33650783
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
PMID:33649541
Lung expression of genes putatively involved in SARS-CoV-2 infection is modulated in cis by germline variants.
PMID:33649539
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
PMID:33649486
Identification of leukemic and pre-leukemic stem cells by clonal tracking from single-cell transcriptomics.
PMID:33649320
Host Genome-Wide Association Study of Infant Susceptibility to Shigella-Associated Diarrhea.
PMID:33649051
From Genome-Wide to Environment-Wide: Capturing the Environome.
PMID:33645332
Genetics of Behçet's Disease: Functional Genetic Analysis and Estimating Disease Heritability.
PMID:33644100
TET2 mutations in acute myeloid leukemia: a comprehensive study in patients of Sindh, Pakistan.
PMID:33643703
SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa.
PMID:33643381
Incorporating both genetic and tobacco smoking data to identify high-risk smokers for lung cancer screening.
PMID:33640962
A molecular quantitative trait locus map for osteoarthritis.
PMID:33637762
Chromatin information content landscapes inform transcription factor and DNA interactions.
PMID:33637709
Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes.
PMID:33637304
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.
PMID:33635866
Identification of Maturity-Onset Diabetes of the Young Caused by Mutation in FOXM1 via Whole-Exome Sequencing in Northern China.
PMID:33633681
A genome-wide association and polygenic risk score study on abnormal electrocardiogram in a Chinese population.
PMID:33633301
The influence of human genetic variation on Epstein-Barr virus sequence diversity.
PMID:33633271
A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant.
PMID:33633220
Haplotype-resolved diverse human genomes and integrated analysis of structural variation.
PMID:33632895
In Vivo Functional Effects of CYP2C9 M1L, a Novel and Common Variant in the Yup'ik Alaska Native Population.
PMID:33632714
Revealing the role of the human blood plasma proteome in obesity using genetic drivers.
PMID:33627659
Accurate imputation of human leukocyte antigens with CookHLA.
PMID:33627654
PICS2: Next-generation fine mapping via probabilistic identification of causal SNPs.
PMID:33624747
Predicting dynamic cellular protein-RNA interactions by deep learning using in vivo RNA structures.
PMID:33623109
Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma.
PMID:33622343
Association of CXCR6 with COVID-19 severity: Delineating the host genetic factors in transcriptomic regulation.
PMID:33619490
Mild catalytic defects of tert rs61748181 polymorphism affect the clinical presentation of chronic obstructive pulmonary disease.
PMID:33619289
Differential Associations of SLCO Transporters with Prostate Cancer Aggressiveness between African Americans and European Americans.
PMID:33619025
CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores.
PMID:33618777
Megabase-scale methylation phasing using nanopore long reads and NanoMethPhase.
PMID:33618748
Comparison of risk allele frequencies of single nucleotide polymorphisms associated with age-related macular degeneration in different ethnic groups.
PMID:33618707
Common allotypes of ER aminopeptidase 1 have substrate-dependent and highly variable enzymatic properties.
PMID:33617882
Adaptive Admixture of HLA Class I Allotypes Enhanced Genetically Determined Strength of Natural Killer Cells in East Asians.
PMID:33616658
Human-specific polymorphic pseudogenization of SIGLEC12 protects against advanced cancer progression.
PMID:33615152
Polygenic Risk Scores Predict Hypertension Onset and Cardiovascular Risk.
PMID:33611940
Development of genome-wide polygenic risk scores for lipid traits and clinical applications for dyslipidemia, subclinical atherosclerosis, and diabetes cardiovascular complications among East Asians.
PMID:33608049
Genome-wide association analysis of cognitive function in Danish long-lived individuals.
PMID:33607172
Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation.
PMID:33606672
Associations between the CADM2 gene, substance use, risky sexual behavior, and self-control: A phenome-wide association study.
PMID:33604983
Multi-omics highlights ABO plasma protein as a causal risk factor for COVID-19.
PMID:33604698
Trans-ethnic meta-analysis identifies new loci associated with longitudinal blood pressure traits.
PMID:33603002
A meta-analysis uncovers the first sequence variant conferring risk of Bell's palsy.
PMID:33602968
A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models.
PMID:33602898
GCKR common functional polymorphisms are associated with metabolic syndrome and its components: a 10-year retrospective cohort study in Iranian adults.
PMID:33602293
Tuberculosis Exposure With Risk of Behçet Disease Among Patients With Uveitis.
PMID:33599689
Allelic and genotype frequencies of major CYP2B6 polymorphisms in the Pakistani population.
PMID:33599403
Determinants of genome-wide distribution and evolution of uORFs in eukaryotes.
PMID:33597535
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
PMID:33597508
Population-specific causal disease effect sizes in functionally important regions impacted by selection.
PMID:33597505
Association between sex hormones regulation-related SNP rs12233719 and lung cancer risk among never-smoking Chinese women.
PMID:33595913
KIR2DL4 genetic diversity in a Brazilian population sample: implications for transcription regulation and protein diversity in samples with different ancestry backgrounds.
PMID:33595694
HTSlib: C library for reading/writing high-throughput sequencing data.
PMID:33594436
Rare deleterious germline variants and risk of lung cancer.
PMID:33594163
Phenotypic covariance across the entire spectrum of relatedness for 86 billion pairs of individuals.
PMID:33594080
A genomic region associated with protection against severe COVID-19 is inherited from Neandertals.
PMID:33593941
Interaction between G ALNT12 and C1GALT1 Associates with Galactose-Deficient IgA1 and IgA Nephropathy.
PMID:33593824
Mendelian randomization provides no evidence for a causal role in the bidirectional relationship between depression and multiple sclerosis.
PMID:33591230
Twelve years of SAMtools and BCFtools.
PMID:33590861
Admixture mapping identifies African and Amerindigenous local ancestry loci associated with fetal growth.
PMID:33590300
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines.
PMID:33586140
A Chromosome-Painting-Based Pipeline to Infer Local Ancestry under Limited Source Availability.
PMID:33585906
Recent Consanguinity and Outbred Autozygosity Are Associated With Increased Risk of Late-Onset Alzheimer's Disease.
PMID:33584820
Common X-Chromosome Variants Are Associated with Parkinson Disease Risk.
PMID:33583074
Inclusion of genetic variants in an ensemble of gradient boosting decision trees does not improve the prediction of citalopram treatment response.
PMID:33580158
Proteogenomic and metabolomic characterization of human glioblastoma.
PMID:33577785
Integration of genetically regulated gene expression and pharmacological library provides therapeutic drug candidates.
PMID:33577681
OpenContami: A web-based application for detecting microbial contaminants in next-generation sequencing data.
PMID:33576798
Genetically regulated expression underlies cellular sensitivity to chemotherapy in diverse populations.
PMID:33575800
A random forest-based framework for genotyping and accuracy assessment of copy number variations.
PMID:33575619
Authentication, characterization and contamination detection of cell lines, xenografts and organoids by barcode deep NGS sequencing.
PMID:33575611
Critical length in long-read resequencing.
PMID:33575574
Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.
PMID:33574314
Differences in MTHFR and LRRK2 variant's association with sporadic Parkinson's disease in Mexican Mestizos correlated to Native American ancestry.
PMID:33574311
Reintroduction of the archaic variant of NOVA1 in cortical organoids alters neurodevelopment.
PMID:33574182
Smoking Modifies Pancreatic Cancer Risk Loci on 2q21.3.
PMID:33574088
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.
PMID:33573605
Genetic Variants of ANGPT1, CD39, FGF2 and MMP9 Linked to Clinical Outcome of Bevacizumab Plus Chemotherapy for Metastatic Colorectal Cancer.
PMID:33573134
Systematic Prioritization of Candidate Genes in Disease Loci Identifies TRAFD1 as a Master Regulator of IFNγ Signaling in Celiac Disease.
PMID:33569077
A wealth of discovery built on the Human Genome Project - by the numbers.
PMID:33568828
From one human genome to a complex tapestry of ancestry.
PMID:33568827
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
PMID:33568819
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
PMID:33568816
Genetic determinants of daytime napping and effects on cardiometabolic health.
PMID:33568662
Amyloid PET Imaging in Self-Identified Non-Hispanic Black Participants of the Anti-Amyloid in Asymptomatic Alzheimer's Disease (A4) Study.
PMID:33568538
Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features.
PMID:33566628
A Bayesian hierarchically structured prior for rare-variant association testing.
PMID:33565109
Evolution of genome structure in the Drosophila simulans species complex.
PMID:33563718
Visualizing population structure with variational autoencoders.
PMID:33561250
Comprehensive characterization of protein-protein interactions perturbed by disease mutations.
PMID:33558758
Replication of HLA class II locus association with susceptibility to podoconiosis in three Ethiopian ethnic groups.
PMID:33558538
Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.
PMID:33557580
TEfinder: A Bioinformatics Pipeline for Detecting New Transposable Element Insertion Events in Next-Generation Sequencing Data.
PMID:33557410
Role of Transposable Elements in Gene Regulation in the Human Genome.
PMID:33557056
SARS-CoV-2 mutation 614G creates an elastase cleavage site enhancing its spread in high AAT-deficient regions.
PMID:33556558
Transethnic analysis of the human leukocyte antigen region for ulcerative colitis reveals not only shared but also ethnicity-specific disease associations.
PMID:33555323
SNPs in the 3'-untranslated region of SLC30A8 confer risk of type 2 diabetes mellitus in a south-east Iranian population: Evidences from case-control and bioinformatics studies.
PMID:33553018
The Use Of Genetic Correlation And Mendelian Randomization Studies To Increase Our Understanding of Relationships Between Complex Traits.
PMID:33552841
IUPACpal: efficient identification of inverted repeats in IUPAC-encoded DNA sequences.
PMID:33549041
Evaluating the effects of cardiometabolic exposures on circulating proteins which may contribute to severe SARS-CoV-2.
PMID:33548839
Whole genome sequencing identifies novel genetic mutations in patients with eczema herpeticum.
PMID:33548076
Reconstruction of Microbial Haplotypes by Integration of Statistical and Physical Linkage in Scaffolding.
PMID:33547786
Genetic ancestry plays a central role in population pharmacogenomics.
PMID:33547344
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.
PMID:33547292
Tumor to normal single-cell mRNA comparisons reveal a pan-neuroblastoma cancer cell.
PMID:33547074
A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.
PMID:33547071
Topologically associating domain boundaries that are stable across diverse cell types are evolutionarily constrained and enriched for heritability.
PMID:33545030
Multi-omic and multi-species meta-analyses of nicotine consumption.
PMID:33542196
Dissecting the role of Amerindian genetic ancestry and the ApoE ε4 allele on Alzheimer disease in an admixed Peruvian population.
PMID:33541779
Bivariate genome-wide association study (GWAS) of body mass index and blood pressure phenotypes in northern Chinese twins.
PMID:33539483
Polygenic risk score validation using Korean genomes of 265 early-onset acute myocardial infarction patients and 636 healthy controls.
PMID:33539413
Creating artificial human genomes using generative neural networks.
PMID:33539374
Relationship between allergic sensitisation-associated single-nucleotide polymorphisms and allergic transfusion reactions and febrile non-haemolytic transfusion reactions in paediatric cases.
PMID:33539286
Genetic influences on the interactionist model of socioeconomic development: Incorporating polygenic scores for educational attainment into developmental research using the Family Transitions Project (FTP).
PMID:33539126
Benchmarking of next and third generation sequencing technologies and their associated algorithms for de novo genome assembly.
PMID:33537807
Relationship Between Interleukin-6 -174G/C Genetic Variant and Efficacy of Methotrexate Treatment in Psoriatic Arthritis Patients.
PMID:33536774
CYP2C9 Variations and Their Pharmacogenetic Implications Among Diverse South Asian Populations.
PMID:33536773
A fast and efficient colocalization algorithm for identifying shared genetic risk factors across multiple traits.
PMID:33536417
Low-pass sequencing increases the power of GWAS and decreases measurement error of polygenic risk scores compared to genotyping arrays.
PMID:33536225
Improved prediction of fracture risk leveraging a genome-wide polygenic risk score.
PMID:33536041
Whole-genome characterization of lung adenocarcinomas lacking the RTK/RAS/RAF pathway.
PMID:33535033
Associations of biogeographic ancestry with hypertension traits.
PMID:33534346
Detecting High Scoring Local Alignments in Pangenome Graphs.
PMID:33532821
ACE2 and FURIN variants are potential predictors of SARS-CoV-2 outcome: A time to implement precision medicine against COVID-19.
PMID:33532652
Evaluating the molecular diagnostic yield of joint genotyping-based approach for detecting rare germline pathogenic and putative loss-of-function variants.
PMID:33531667
Genetic scores for adult subcortical volumes associate with subcortical volumes during infancy and childhood.
PMID:33528897
Kaiso (ZBTB33) subcellular partitioning functionally links LC3A/B, the tumor microenvironment, and breast cancer survival.
PMID:33526872
PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes.
PMID:33526789
DeCompress: tissue compartment deconvolution of targeted mRNA expression panels using compressed sensing.
PMID:33524140
Human population dynamics and Yersinia pestis in ancient northeast Asia.
PMID:33523963
Genetic ancestry changes in Stone to Bronze Age transition in the East European plain.
PMID:33523926
Risk Variants in Three Alzheimer's Disease Genes Show Association with EEG Endophenotypes.
PMID:33522999
Increased APOE ε4 expression is associated with the difference in Alzheimer's disease risk from diverse ancestral backgrounds.
PMID:33522086
Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon.
PMID:33519226
Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.
PMID:33513295
FASTQuick: rapid and comprehensive quality assessment of raw sequence reads.
PMID:33511994
Genome-wide association analyses of post-traumatic stress disorder and its symptom subdomains in the Million Veteran Program.
PMID:33510476
Evaluation of microhaplotypes in forensic kinship analysis from a Swedish population perspective.
PMID:33506298
Insight on the Genetics of Atrial Fibrillation in Puerto Rican Hispanics.
PMID:33505650
Male-Dominated Migration and Massive Assimilation of Indigenous East Asians in the Formation of Muslim Hui People in Southwest China.
PMID:33505437
The contribution of X-linked coding variation to severe developmental disorders.
PMID:33504798
Shedding Light on the African Enigma: In Vitro Testing of Homo sapiens-Helicobacter pylori Coevolution.
PMID:33503840
Inflammation-driven deaminase deregulation fuels human pre-leukemia stem cell evolution.
PMID:33503434
Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants.
PMID:33502607
Transcriptionally active enhancers in human cancer cells.
PMID:33502116
Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene.
PMID:33501421
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci.
PMID:33499903
Identification of Variants (rs11571707, rs144848, and rs11571769) in the BRCA2 Gene Associated with Hereditary Breast Cancer in Indigenous Populations of the Brazilian Amazon.
PMID:33499154
Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder.
PMID:33495439
Haplotype structure defines effects of common DPYD variants c.85T > C (rs1801265) and c.496A > G (rs2297595) on dihydropyrimidine dehydrogenase activity: Implication for 5-fluorouracil toxicity.
PMID:33491253
An atlas of CNV maps in cattle, goat and sheep.
PMID:33486588
Polygenic risk for autism, attention-deficit hyperactivity disorder, schizophrenia, major depressive disorder, and neuroticism is associated with the experience of childhood abuse.
PMID:33483690
Integrating Linguistics, Social Structure, and Geography to Model Genetic Diversity within India.
PMID:33481022
Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.
PMID:33479212
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
PMID:33476483
Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program.
PMID:33472919
IsoMiRmap-fast, deterministic, and exhaustive mining of isomiRs from short RNA-seq datasets.
PMID:33471076
Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.
PMID:33468668
A rare large duplication of MLH1 identified in Lynch syndrome.
PMID:33468175
Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect.
PMID:33465068
Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power.
PMID:33462486
Large-scale association analyses identify host factors influencing human gut microbiome composition.
PMID:33462485
Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk.
PMID:33462483
Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data.
PMID:33462347
FGFR4 c.1162G > A (p.Gly388Arg) Polymorphism Analysis in Turkish Patients with Retinoblastoma.
PMID:33456465
Meta-analysis of sample-level dbGaP data reveals novel shared genetic link between body height and Crohn's disease.
PMID:33452914
Complex genetic admixture histories reconstructed with Approximate Bayesian Computation.
PMID:33452723
SARS-CoV-2 infection susceptibility influenced by ACE2 genetic polymorphisms: insights from Tehran Cardio-Metabolic Genetic Study.
PMID:33452303
Contamination detection in sequencing studies using the mitochondrial phylogeny.
PMID:33452015
Non-B DNA: a major contributor to small- and large-scale variation in nucleotide substitution frequencies across the genome.
PMID:33450015
Making sense of missense variants in TTN-related congenital myopathies.
PMID:33449170
A genome-wide strategy to identify causes and consequences of retrotransposon expression finds activation by BRCA1 in ovarian cancer.
PMID:33447827
Whole genome sequencing of 10K patients with acute ischaemic stroke or transient ischaemic attack: design, methods and baseline patient characteristics.
PMID:33443231
The evolution of skin pigmentation-associated variation in West Eurasia.
PMID:33443182
Ancient DNA from Guam and the peopling of the Pacific.
PMID:33443177
Transcriptome-wide high-throughput mapping of protein-RNA occupancy profiles using POP-seq.
PMID:33441968
Identification of ancestry proportions in admixed groups across the Americas using clinical pharmacogenomic SNP panels.
PMID:33441860
Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection.
PMID:33441574
Clinical laboratory test-wide association scan of polygenic scores identifies biomarkers of complex disease.
PMID:33441150
DALIA- a comprehensive resource of Disease Alleles in Arab population.
PMID:33439861
Genome diversity in Ukraine.
PMID:33438729
Heritability and family-based GWAS analyses of the N-acyl ethanolamine and ceramide plasma lipidome.
PMID:33437986
Human whole genome sequencing in South Africa.
PMID:33436733
Thousands of high-quality sequencing samples fail to show meaningful correlation between 5S and 45S ribosomal DNA arrays in humans.
PMID:33432083
Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference.
PMID:33431880
Multi-environment gene interactions linked to the interplay between polysubstance dependence and suicidality.
PMID:33431810
Associations between depression and cardiometabolic health: A 27-year longitudinal study.
PMID:33431106
Chronic migraine: Genetics or environment?
PMID:33428804
Population structure of indigenous inhabitants of Arabia.
PMID:33428619
Exploring the Relationship Between Psychiatric Traits and the Risk of Mouth Ulcers Using Bi-Directional Mendelian Randomization.
PMID:33424931
Association between ALDH2 and ADH1B Polymorphisms and the Risk for Colorectal Cancer in Koreans.
PMID:33421985
Patients dispensed medications with actionable pharmacogenomic biomarkers: rates and characteristics.
PMID:33420348
SLE non-coding genetic risk variant determines the epigenetic dysfunction of an immune cell specific enhancer that controls disease-critical microRNA expression.
PMID:33420081
Disease risk scores for skin cancers.
PMID:33420020
Functional Common and Rare ERBB2 Germline Variants Cooperate in Familial and Sporadic Cancer Susceptibility.
PMID:33419763
Population-Specific ACE2 Single-Nucleotide Polymorphisms Have Limited Impact on SARS-CoV-2 Infectivity In Vitro.
PMID:33418950
BamSnap: a lightweight viewer for sequencing reads in BAM files.
PMID:33416869
Whole genome phylogenies reflect the distributions of recombination rates for many bacterial species.
PMID:33416498
Novel Linkage Peaks Discovered for Diabetic Nephropathy in Individuals With Type 1 Diabetes.
PMID:33414249
Gene variations in autism spectrum disorder are associated with alteration of gut microbiota, metabolites and cytokines.
PMID:33412999
Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.
PMID:33410475
Genomic profile of metastatic breast cancer patient-derived xenografts established using percutaneous biopsy.
PMID:33407601
A Hierarchical Approach Using Marginal Summary Statistics for Multiple Intermediates in a Mendelian Randomization or Transcriptome Analysis.
PMID:33404048
The origins and consequences of UPF1 variants in pancreatic adenosquamous carcinoma.
PMID:33404013
New novel non-MHC genes were identified for cervical cancer with an integrative analysis approach of transcriptome-wide association study.
PMID:33403041
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.
PMID:33402679
Accurate, scalable cohort variant calls using DeepVariant and GLnexus.
PMID:33399819
An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility.
PMID:33398303
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction.
PMID:33398198
Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy.
PMID:33397963
Reference flow: reducing reference bias using multiple population genomes.
PMID:33397413
Strong Association of the rs4986790 Single Nucleotide Polymorphism (SNP) of the Toll-Like Receptor 4 (TLR4) Gene with Human Immunodeficiency Virus (HIV) Infection: A Meta-Analysis.
PMID:33396586
Probably Correct: Rescuing Repeats with Short and Long Reads.
PMID:33396198
Accurate genetic and environmental covariance estimation with composite likelihood in genome-wide association studies.
PMID:33395406
Whole exome sequencing and system biology analysis support the "two-hit" mechanism in the onset of Ameloblastoma.
PMID:33395399
Defining eligible patients for allele-selective chemotherapies targeting NAT2 in colorectal cancer.
PMID:33384440
Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment.
PMID:33383876
Identification of New Helicobacter pylori Subpopulations in Native Americans and Mestizos From Peru.
PMID:33381095
Genome-wide linkage analysis of families with primary hyperhidrosis.
PMID:33378362
Identification of Immunological Parameters as Predictive Biomarkers of Relapse in Patients with Chronic Myeloid Leukemia on Treatment-Free Remission.
PMID:33375572
Impact of Genetic Variability in ACE2 Expression on the Evolutionary Dynamics of SARS-CoV-2 Spike D614G Mutation.
PMID:33374416
Cannabis use in college: Genetic predispositions, peers, and activity participation.
PMID:33373877
Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.
PMID:33372952
Recent shifts in the genomic ancestry of Mexican Americans may alter the genetic architecture of biomedical traits.
PMID:33372659
Breast Cancer Organoids Model Patient-Specific Response to Drug Treatment.
PMID:33371412
Dioxin exposure associated with fecundability and infertility in mothers and daughters of Seveso, Italy.
PMID:33367671
A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests.
PMID:33367522
Prognostic Genetic Markers for Thrombosis in COVID-19 Patients: A Focused Analysis on D-Dimer, Homocysteine and Thromboembolism.
PMID:33362545
Predictive network modeling in human induced pluripotent stem cells identifies key driver genes for insulin responsiveness.
PMID:33362275
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
PMID:33362202
A genetic history of the pre-contact Caribbean.
PMID:33361817
A variant-centric perspective on geographic patterns of human allele frequency variation.
PMID:33350384
The effect of angiotensin-converting enzyme levels on COVID-19 susceptibility and severity: a Mendelian randomization study.
PMID:33349849
Promoter-interacting expression quantitative trait loci are enriched for functional genetic variants.
PMID:33349701
Multi-omics data integration considerations and study design for biological systems and disease.
PMID:33347526
SVIM-asm: Structural variant detection from haploid and diploid genome assemblies.
PMID:33346817
Maternal antioxidant treatment prevents the adverse effects of prenatal stress on the offspring's brain and behavior.
PMID:33344732
Improved Detection of Potentially Pleiotropic Genes in Coronary Artery Disease and Chronic Kidney Disease Using GWAS Summary Statistics.
PMID:33343632
Investigation of Genetic Variations of IL6 and IL6R as Potential Prognostic and Pharmacogenetics Biomarkers: Implications for COVID-19 and Neuroinflammatory Disorders.
PMID:33339153
Genetic variants as biomarkers for progression and resistance in multiple myeloma.
PMID:33338886
A Distributed Whole Genome Sequencing Benchmark Study.
PMID:33335541
Hypertension and the roles of the 9p21.3 risk locus: Classic findings and new association data.
PMID:33330845
Multiple-Tissue Integrative Transcriptome-Wide Association Studies Discovered New Genes Associated With Amyotrophic Lateral Sclerosis.
PMID:33329728
Oncology and Pharmacogenomics Insights in Polycystic Ovary Syndrome: An Integrative Analysis.
PMID:33329391
Germline Variation and Somatic Alterations in Ewing Sarcoma.
PMID:33326089
Response to Jackson.
PMID:33321101
Integrating comprehensive functional annotations to boost power and accuracy in gene-based association analysis.
PMID:33320851
Genetic associations with temporal shifts in obesity and severe obesity during the obesity epidemic in Norway: A longitudinal population-based cohort (the HUNT Study).
PMID:33315864
Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data.
PMID:33313134
Pharmacogenomics landscape of COVID-19 therapy response in Serbian population and comparison with worldwide populations.
PMID:33312066
Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study.
PMID:33308445
The impact of post-alignment processing procedures on whole-exome sequencing data.
PMID:33306778
Case report: severe toxicity in an African-American patient receiving FOLFOX carrying uncommon allelic variants in DPYD.
PMID:33305610
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
PMID:33303739
Epigenomic differences in the human and chimpanzee genomes are associated with structural variation.
PMID:33303495
In-Depth Analysis of Genetic Variation Associated with Severe West Nile Viral Disease.
PMID:33302579
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.
PMID:33302505
Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype.
PMID:33301229
Germline variation in the insulin-like growth factor pathway and risk of Barrett's esophagus and esophageal adenocarcinoma.
PMID:33300568
COVID-19 genetic risk variants are associated with expression of multiple genes in diverse immune cell types.
PMID:33299987
A reference catalog of DNA palindromes in the human genome and their variations in 1000 Genomes.
PMID:33298903
Initial whole-genome sequencing and analysis of the host genetic contribution to COVID-19 severity and susceptibility.
PMID:33298875
Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.
PMID:33298453
Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria.
PMID:33296702
The Evolutionary History of Common Genetic Variants Influencing Human Cortical Surface Area.
PMID:33290510
Insights into the genetic architecture of the human face.
PMID:33288918
Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads.
PMID:33288906
Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease.
PMID:33288751
Upscaling Statistical Patterns from Reduced Storage in Social and Life Science Big Datasets.
PMID:33286853
Accurate assembly of the olive baboon (Papio anubis) genome using long-read and Hi-C data.
PMID:33283855
Tracing the Genetic Legacy of the Tibetan Empire in the Balti.
PMID:33283852
Urinary metabolite quantitative trait loci in children and their interaction with dietary factors.
PMID:33283231
Genetic risk factors predict disease progression in Crohn's disease patients of the Swiss inflammatory bowel disease cohort.
PMID:33281934
Delineating the Genetic Component of Gene Expression in Major Depression.
PMID:33279206
Characterizing the effect of background selection on the polygenicity of brain-related traits.
PMID:33278486
Implications of Polymorphisms in the BCKDK and GATA-4 Gene Regions on Stable Warfarin Dose in African Americans.
PMID:33278335
TGFB1 polymorphisms and TGF-β1 plasma levels identify gastric adenocarcinoma patients with lower survival rate and disseminated disease.
PMID:33274798
Autosomal genetics and Y-chromosome haplogroup L1b-M317 reveal Mount Lebanon Maronites as a persistently non-emigrating population.
PMID:33273712
Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus.
PMID:33272962
Sequence Variation in the DDAH1 Gene Predisposes for Delayed Cerebral Ischemia in Subarachnoidal Hemorrhage.
PMID:33271854
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
PMID:33269076
Identification and characterization of constrained non-exonic bases lacking predictive epigenomic and transcription factor binding annotations.
PMID:33268804
Genetic Ancestry Contributes to Somatic Mutations in Lung Cancers from Admixed Latin American Populations.
PMID:33268447
CoolMPS for robust sequencing of single-nuclear RNAs captured by droplet-based method.
PMID:33264392
Genetic liability in individuals at ultra-high risk of psychosis: A comparison study of 9 psychiatric traits.
PMID:33264322
Novel Risk Loci Associated With Genetic Risk for Bipolar Disorder Among Han Chinese Individuals: A Genome-Wide Association Study and Meta-analysis.
PMID:33263727
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias.
PMID:33263113
HLA-A29 and Birdshot Uveitis: Further Down the Rabbit Hole.
PMID:33262772
Investigating Mitonuclear Genetic Interactions Through Machine Learning: A Case Study on Cold Adaptation Genes in Human Populations From Different European Climate Regions.
PMID:33262703
Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements.
PMID:33257898
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region.
PMID:33257509
Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.
PMID:33256598
Novel methods for epistasis detection in genome-wide association studies.
PMID:33253293
Predicting changes in protein thermodynamic stability upon point mutation with deep 3D convolutional neural networks.
PMID:33253214
Genome plasticity in Paramecium bursaria revealed by population genomics.
PMID:33250052
Sometimes hidden but always there: the assumptions underlying genetic inference of demographic histories.
PMID:33250022
A Meta-Analysis of the Transferability of Bone Mineral Density Genetic Loci Associations From European to African Ancestry Populations.
PMID:33249669
High-resolution population-specific recombination rates and their effect on phasing and genotype imputation.
PMID:33249422
Non-invasive stratification of hepatocellular carcinoma risk in non-alcoholic fatty liver using polygenic risk scores.
PMID:33248170
PheLiGe: an interactive database of billions of human genotype-phenotype associations.
PMID:33245779
Searching for the roots of the first free African American community.
PMID:33244039
Impact of Proliferator-Activated Receptor γ Gene Polymorphisms on Risk of Schizophrenia: A Case-Control Study and Computational Analyses.
PMID:33240378
How Ancestry Influences the Chances of Finding Unrelated Donors: An Investigation in Admixed Brazilians.
PMID:33240273
The genetic architecture of sporadic and multiple consecutive miscarriage.
PMID:33239672
In silico prediction of ARB resistance: A first step in creating personalized ARB therapy.
PMID:33237899
Diversity matters: opportunities in the study of the genetics of psychotic disorders in low- and middle-income countries in Latin America.
PMID:33237255
Qtlizer: comprehensive QTL annotation of GWAS results.
PMID:33235230
Identification of Novel Genetic Variants Related to Trabecular Bone Score in Community-Dwelling Older Adults.
PMID:33232597
Polygenic risk scores for late smoking initiation associated with the risk of schizophrenia.
PMID:33230172
Proportion of Idiopathic Pulmonary Fibrosis Risk Explained by Known Common Genetic Loci in European Populations.
PMID:33226834
Genome-wide association study across pediatric central nervous system tumors implicates shared predisposition and points to 1q25.2 (PAPPA2) and 11p12 (LRRC4C) as novel candidate susceptibility loci.
PMID:33226468
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2.
PMID:33219223
Polygenic Risk Score of Longevity Predicts Longer Survival Across an Age Continuum.
PMID:33216869
Speeding up Monte Carlo simulations for the adaptive sum of powered score test with importance sampling.
PMID:33215683
Mendelian randomization study shows no causal effects of serum urate levels on the risk of MS.
PMID:33214142
Genetic associations of in vivo pathology influence Alzheimer's disease susceptibility.
PMID:33213512
Genome-wide association studies and heritability analysis reveal the involvement of host genetics in the Japanese gut microbiota.
PMID:33208821
Gga3 deletion and a GGA3 rare variant associated with late onset Alzheimer's disease trigger BACE1 accumulation in axonal swellings.
PMID:33208500
An integrative machine learning approach to discovering multi-level molecular mechanisms of obesity using data from monozygotic twin pairs.
PMID:33204460
Genetic Predictors of Severe Skin Toxicity in Patients with Stage III Colon Cancer Treated with Cetuximab: NCCTG N0147 (Alliance).
PMID:33203692
A High Quality Asian Genome Assembly Identifies Features of Common Missing Regions.
PMID:33202901
Developmental Validation of a MPS Workflow with a PCR-Based Short Amplicon Whole Mitochondrial Genome Panel.
PMID:33202822
Role of Non-Coding Variants in Brugada Syndrome.
PMID:33202810
The Genetic Structure of Chinese Hui Ethnic Group Revealed by Complete Mitochondrial Genome Analyses Using Massively Parallel Sequencing.
PMID:33202591
Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma.
PMID:33201204
Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype-phenotype correlations in the Chinese population.
PMID:33200202
PNPLA3 and TM6SF2 polymorphisms in Brazilian patients with nonalcoholic fatty liver disease.
PMID:33200017
Genotype-phenotype analysis in Mowat-Wilson syndrome associated with two novel and two recurrent ZEB2 variants.
PMID:33199988
Phased Haplotype Resolution of the SLC6A4 Promoter Using Long-Read Single Molecule Real-Time (SMRT) Sequencing.
PMID:33198140
Epigenome engineering: new technologies for precision medicine.
PMID:33196851
Genotype imputation using the Positional Burrows Wheeler Transform.
PMID:33196638
Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction.
PMID:33196317
Cis- and Trans-Acting Expression Quantitative Trait Loci of Long Non-Coding RNA in 2,549 Cancers With Potential Clinical and Therapeutic Implications.
PMID:33194770
Broadening the Applicability of a Custom Multi-Platform Panel of Microhaplotypes: Bio-Geographical Ancestry Inference and Expanded Reference Data.
PMID:33193704
Citizens' Attitudes, Knowledge, and Educational Needs in the Field of Omics Sciences: A Systematic Literature Review.
PMID:33193671
Exome Sequencing of Native Populations From the Amazon Reveals Patterns on the Peopling of South America.
PMID:33193622
Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance.
PMID:33193618
GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline.
PMID:33193602
Effects of TLR7 Polymorphisms on the Susceptibility and Progression of HIV-1 Infection in Chinese MSM Population.
PMID:33193416
Examining the association between family status and depression in the UK Biobank.
PMID:33189065
The Role of Gallstones in Gallbladder Cancer in India: A Mendelian Randomization Study.
PMID:33187967
A Multi-omic Integrative Scheme Characterizes Tissues of Action at Loci Associated with Type 2 Diabetes.
PMID:33186544
Three Signatures of Adaptive Polymorphism Exemplified by Malaria-Associated Genes.
PMID:33185667
Clinical Application of a Novel Genetic Risk Score for Ischemic Stroke in Patients With Cardiometabolic Disease.
PMID:33185476
Key role for lipids in cognitive symptoms of schizophrenia.
PMID:33184259
SCELLECTOR: ranking amplification bias in single cells using shallow sequencing.
PMID:33183232
Global Picture of Genetic Relatedness and the Evolution of Humankind.
PMID:33182715
Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome.
PMID:33179741
Systematic identification of cis-regulatory variants that cause gene expression differences in a yeast cross.
PMID:33179598
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
PMID:33176815
Muscle-Liver Trafficking of BCAA-Derived Nitrogen Underlies Obesity-Related Glycine Depletion.
PMID:33176135
The Interplay between Maternal Smoking and Genes in Offspring Birth Weight.
PMID:33173933
Pituitary Tumor Transforming Gene 1 Orchestrates Gene Regulatory Variation in Mouse Ventral Midbrain During Aging.
PMID:33173537
Molecular genomic features associated with in vitro response of the NCI-60 cancer cell line panel to natural products.
PMID:33169510
Genome-Wide Association Studies of Schizophrenia and Bipolar Disorder in a Diverse Cohort of US Veterans.
PMID:33169155
Variations in the frequencies of polymorphisms in the CYP2C9 gene in six major ethnicities of Pakistan.
PMID:33168919
Identification of candidate genetic variants and altered protein expression in neural stem and mature neural cells support altered microtubule function to be an essential component in bipolar disorder.
PMID:33168801
SVFX: a machine learning framework to quantify the pathogenicity of structural variants.
PMID:33168059
Mapping of cis-acting expression quantitative trait loci in human scalp hair follicles.
PMID:33167971
Comparative assessments of indel annotations in healthy and cancer genomes with next-generation sequencing data.
PMID:33167946
The ssDNA-binding protein MEIOB acts as a dosage-sensitive regulator of meiotic recombination.
PMID:33166385
Identifying genetic variants associated with ritodrine-induced pulmonary edema.
PMID:33166306
Single-cell multiomic profiling of human lungs reveals cell-type-specific and age-dynamic control of SARS-CoV2 host genes.
PMID:33164753
The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor.
PMID:33158149
Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data.
PMID:33154511
Genetic Risk Scores Identify Genetic Aetiology of Inflammatory Bowel Disease Phenotypes.
PMID:33152062
Maternal dysglycaemia, changes in the infant's epigenome modified with a diet and physical activity intervention in pregnancy: Secondary analysis of a randomised control trial.
PMID:33151971
Base Editing in Human Cells to Produce Single-Nucleotide-Variant Clonal Cell Lines.
PMID:33151638
Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients.
PMID:33150996
Cognitive disorders associated with hospitalization of COVID-19: Results from an observational cohort study.
PMID:33148439
Clinical Interpretation and Management of Genetic Variants.
PMID:33145465
Impact of Genetic Ancestry on Prognostic Biomarkers in Uveal Melanoma.
PMID:33142712
Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients.
PMID:33138793
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
PMID:33138774
Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline.
PMID:33137338
Plant-ImputeDB: an integrated multiple plant reference panel database for genotype imputation.
PMID:33137192
Inferring causal direction between two traits in the presence of horizontal pleiotropy with GWAS summary data.
PMID:33137120
TreeMap: a structured approach to fine mapping of eQTL variants.
PMID:33135051
Genetic risk for Alzheimer disease predicts hippocampal volume through the human lifespan.
PMID:33134508
Schizophrenia Polygenic Risk and Brain Structural Changes in Methamphetamine-Associated Psychosis in a South African Population.
PMID:33133134
L-Methylfolate as a Monotherapy for Treatment-Resistant Depression: A Case Study.
PMID:33132780
Autoimmunity linked protein phosphatase PTPN22 as a target for cancer immunotherapy.
PMID:33127657
5,10-Methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphisms in patients with nonsyndromic cleft lip and palate.
PMID:33123371
The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease.
PMID:33122718
Evaluating genotype imputation pipeline for ultra-low coverage ancient genomes.
PMID:33122697
circVAR database: genome-wide archive of genetic variants for human circular RNAs.
PMID:33121433
Breast Cancer and Tamoxifen: A Nigerian Perspective to Effective Personalised Therapy.
PMID:33116814
High-depth African genomes inform human migration and health.
PMID:33116287
Strategic vision for improving human health at The Forefront of Genomics.
PMID:33116284
Genetic predisposition to longer telomere length and risk of childhood, adolescent and adult-onset ependymoma.
PMID:33115534
Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.
PMID:33114181
Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics.
PMID:33113361
Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism.
PMID:33112806
Multicenter Comparison of Molecular Tumor Boards in The Netherlands: Definition, Composition, Methods, and Targeted Therapy Recommendations.
PMID:33111480
Genetic architecture of cardiometabolic risks in people living with HIV.
PMID:33109212
Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease.
PMID:33107653
Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases.
PMID:33106633
Neanderthal DNA highlights complexity of COVID risk factors.
PMID:33106620
Genome-wide association studies of antidepressant class response and treatment-resistant depression.
PMID:33106475
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
PMID:33103729
Evaluating brain structure traits as endophenotypes using polygenicity and discoverability.
PMID:33098356
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
PMID:33098347
Practical guide for managing large-scale human genome data in research.
PMID:33097812
Noninvasive prenatal paternity determination using microhaplotypes: a pilot study.
PMID:33097049
Discover novel disease-associated genes based on regulatory networks of long-range chromatin interactions.
PMID:33096239
A large-scale genome-wide association study meta-analysis of cannabis use disorder.
PMID:33096046
IndiGenomes: a comprehensive resource of genetic variants from over 1000 Indian genomes.
PMID:33095885
Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation.
PMID:33094908
A Journey through Genetic Architecture and Predisposition of Coronary Artery Disease.
PMID:33093801
Positive selection in admixed populations from Ethiopia.
PMID:33092534
A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism.
PMID:33090996
Neurobiological origins of individual differences in mathematical ability.
PMID:33090992
Association of Uncommon, Noncoding Variants in the APOE Region With Risk of Alzheimer Disease in Adults of European Ancestry.
PMID:33090224
Reference exome data for a Northern Brazilian population.
PMID:33087711
Studying Immunotherapy Resistance in a Melanoma Autologous Humanized Mouse Xenograft.
PMID:33087417
Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia.
PMID:33087180
MetaLAFFA: a flexible, end-to-end, distributed computing-compatible metagenomic functional annotation pipeline.
PMID:33087062
The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations.
PMID:33083011
A Genome-Wide Association Study Identifies the Association between the 12q24 Locus and Black Tea Consumption in Japanese Populations.
PMID:33080986
A secure system for genomics clinical decision support.
PMID:33080397
Warfarin dosing algorithms: A systematic review.
PMID:33080066
Dissecting the Association Between Inflammation, Metabolic Dysregulation, and Specific Depressive Symptoms: A Genetic Correlation and 2-Sample Mendelian Randomization Study.
PMID:33079133
Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon.
PMID:33078831
Base editing: advances and therapeutic opportunities.
PMID:33077937
Prediction of genome-wide effects of single nucleotide variants on transcription factor binding.
PMID:33077858
Genetic association of FMRP targets with psychiatric disorders.
PMID:33077856
Quantifying the distribution of protein oligomerization degree reflects cellular information capacity.
PMID:33077848
Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.
PMID:33077514
Investigation of INDEL variants in apoptosis: the relevance to gastric cancer.
PMID:33076854
PopInf: An Approach for Reproducibly Visualizing and Assigning Population Affiliation in Genomic Samples of Uncertain Origin.
PMID:33074720
Comparing local ancestry inference models in populations of two- and three-way admixture.
PMID:33072440
A Novel Framework for Characterizing Genomic Haplotype Diversity in the Human Immunoglobulin Heavy Chain Locus.
PMID:33072076
Detecting Selection from Linked Sites Using an F-Model.
PMID:33067324
Design and methods of the prevalence and pharmacogenomics of tenofovir nephrotoxicity in HIV-positive adults in south-western Nigeria study.
PMID:33066744
Genomics in Personalized Nutrition: Can You "Eat for Your Genes"?
PMID:33065985
Three Phases of Ancient Migration Shaped the Ancestry of Human Populations in Vanuatu.
PMID:33065004
On the application, reporting, and sharing of in silico simulations for genetic studies.
PMID:33063887
Global RNA editome landscape discovers reduced RNA editing in glioma: loss of editing of gamma-amino butyric acid receptor alpha subunit 3 (GABRA3) favors glioma migration and invasion.
PMID:33062411
Association of CNVs with methylation variation.
PMID:33062306
Ultrafast and scalable variant annotation and prioritization with big functional genomics data.
PMID:33060171
SMN1 copy-number and sequence variant analysis from next-generation sequencing data.
PMID:33058415
The Pharmacogenetics of Rituximab: Potential Implications for Anti-CD20 Therapies in Multiple Sclerosis.
PMID:33058021
Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia.
PMID:33057169
A review of UMAP in population genetics.
PMID:33057159
Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants.
PMID:33057025
The support of genetic evidence for cardiovascular risk induced by antineoplastic drugs.
PMID:33055159
Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions.
PMID:33052113
Whole genome sequencing data of multiple individuals of Pakistani descent.
PMID:33051442
Population structure and pharmacogenomic risk stratification in the United States.
PMID:33050895
Mutation Rate Variability across Human Y-Chromosome Haplogroups.
PMID:33049047
UEG Week 2020 Poster Presentations.
PMID:33043826
Genetic Variant Set-Based Tests Using the Generalized Berk-Jones Statistic with Application to a Genome-Wide Association Study of Breast Cancer.
PMID:33041403
Association of homozygous variants of STING1 with outcome in human cervical cancer.
PMID:33040406
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
PMID:33037779
[Individualized immunotherapy for malignant tumors using peptide vaccines-maybe it does work after all?].
PMID:33034694
Gene-set Enrichment with Mathematical Biology (GEMB).
PMID:33034635
Multi-ethnic GWAS and meta-analysis of sleep quality identify MPP6 as a novel gene that functions in sleep center neurons.
PMID:33034629
A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.
PMID:33031748
The Arg-293 of Cryptochrome1 is responsible for the allosteric regulation of CLOCK-CRY1 binding in circadian rhythm.
PMID:33028638
Increasing Ancestral Diversity in Systemic Lupus Erythematosus Clinical Studies.
PMID:33026693
The Membrane Transporter OAT7 (SLC22A9) Is Not a Susceptibility Factor for Osteoporosis in Europeans.
PMID:33013684
Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.
PMID:33012783
Ancient RNA virus epidemics through the lens of recent adaptation in human genomes.
PMID:33012231
Polygenic Score for β-Blocker Survival Benefit in European Ancestry Patients With Reduced Ejection Fraction Heart Failure.
PMID:33012170
Mouse Genetic Reference Populations: Cellular Platforms for Integrative Systems Genetics.
PMID:33010949
Genome-Wide Association Analysis of Neonatal White Matter Microstructure.
PMID:33009551
FSHB Transcription is Regulated by a Novel 5' Distal Enhancer With a Fertility-Associated Single Nucleotide Polymorphism.
PMID:33009549
A Global Map of G Protein Signaling Regulation by RGS Proteins.
PMID:33007266
Summary-data-based Mendelian randomization prioritizes potential druggable targets for multiple sclerosis.
PMID:33005893
Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends.
PMID:33005308
ALDH2 genotype modulates the association between alcohol consumption and AST/ALT ratio among middle-aged Japanese men: a genome-wide G × E interaction analysis.
PMID:33004991
Mendelian randomization while jointly modeling cis genetics identifies causal relationships between gene expression and lipids.
PMID:33004804
These Are the Genes You're Looking For: Finding Host Resistance Genes.
PMID:33004258
A genotype imputation method for de-identified haplotype reference information by using recurrent neural network.
PMID:33001993
Penalized regression and model selection methods for polygenic scores on summary statistics.
PMID:33001975
The shaping of immunological responses through natural selection after the Roma Diaspora.
PMID:32999407
Genome-Wide Association Study of Suicide Death and Polygenic Prediction of Clinical Antecedents.
PMID:32998551
Whole exome sequencing identifies rare coding variants in novel human-mouse ortholog genes in African individuals diagnosed with non-syndromic hearing impairment.
PMID:32996353
Enrichment in conservative amino acid changes among fixed and standing missense variations in slowly evolving proteins.
PMID:32995099
Immune response and endocytosis pathways are associated with the resilience against Alzheimer's disease.
PMID:32994401
Cancer Predisposition Genes in Cancer-Free Families.
PMID:32992489
FUT2 Secretor Status Influences Susceptibility to VP4 Strain-Specific Rotavirus Infections in South African Children.
PMID:32992488
Integrative genomic analysis in African American children with asthma finds three novel loci associated with lung function.
PMID:32989782
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
PMID:32989326
Genome-wide association study identifies 48 common genetic variants associated with handedness.
PMID:32989287
Genome variation and population structure among 1142 mosquitoes of the African malaria vector species Anopheles gambiae and Anopheles coluzzii.
PMID:32989001
A splice acceptor variant in HLA-DRA affects the conformation and cellular localization of the class II DR alpha-chain.
PMID:32986852
Multi-ethnic transcriptome-wide association study of prostate cancer.
PMID:32986714
Single Nucleotide Polymorphism in KIR2DL1 Is Associated With HLA-C Expression in Global Populations.
PMID:32983108
Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program.
PMID:32981348
Genetic factors for susceptibility to and manifestations of neuromyelitis optica.
PMID:32979043
SNPs in the interleukin-12 signaling pathway are associated with breast cancer risk in Puerto Rican women.
PMID:32973967
Single-nucleotide polymorphisms and haplotypes in the interleukin-33 gene are associated with a risk of allergic rhinitis in the Chinese population.
PMID:32973951
Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation.
PMID:32973878
Interpreting the impact of noncoding structural variation in neurodevelopmental disorders.
PMID:32973355
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy.
PMID:32973342
Aplastic anemia in a patient with CVID due to NFKB1 haploinsufficiency.
PMID:32972988
Association between genetic and socioenvironmental risk for schizophrenia during upbringing in a UK longitudinal cohort.
PMID:32972469
Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas.
PMID:32971818
Functional gene networks reveal distinct mechanisms segregating in migraine families.
PMID:32968778
Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer.
PMID:32964118
The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.
PMID:32963319
CRISpy-Pop: A Web Tool for Designing CRISPR/Cas9-Driven Genetic Modifications in Diverse Populations.
PMID:32963084
Machine learning demonstrates that somatic mutations imprint invariant morphologic features in myelodysplastic syndromes.
PMID:32961553
Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency.
PMID:32960813
The Duffy-null genotype and risk of infection.
PMID:32959868
Polymicrogyria is Associated With Pathogenic Variants in PTEN.
PMID:32959437
Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing.
PMID:32957965
Genome-Wide Polygenic Score, Clinical Risk Factors, and Long-Term Trajectories of Coronary Artery Disease.
PMID:32957805
Germline ancestry influences the evolutionary disease course in lung adenocarcinomas.
PMID:32952607
An integrated personal and population-based Egyptian genome reference.
PMID:32948767
Generalizability of "GWAS Hits" in Clinical Populations: Lessons from Childhood Cancer Survivors.
PMID:32946765
Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open‑angle glaucoma.
PMID:32945492
A comprehensive analysis of RHOA mutation positive and negative angioimmunoblastic T-cell lymphomas by targeted deep sequencing, expression profiling and single cell digital image analysis.
PMID:32945366
Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping.
PMID:32944285
Evaluating the informativeness of deep learning annotations for human complex diseases.
PMID:32943643
Removing reference bias and improving indel calling in ancient DNA data analysis by mapping to a sequence variation graph.
PMID:32943086
Signatures of Introgression across the Allele Frequency Spectrum.
PMID:32941617
Race and smoking status associated with paclitaxel drug response in patient-derived lymphoblastoid cell lines.
PMID:32941389
Factor analysis of ancient population genomic samples.
PMID:32938925
Variable-order reference-free variant discovery with the Burrows-Wheeler Transform.
PMID:32938358
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.
PMID:32938213
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions.
PMID:32937144
Leveraging genetic ancestry to study health disparities.
PMID:32935870
Sleep deficits and cannabis use behaviors: an analysis of shared genetics using linkage disequilibrium score regression and polygenic risk prediction.
PMID:32935850
Parkinson's disease determinants, prediction and gene-environment interactions in the UK Biobank.
PMID:32934108
Whole-Exome Profiling of NSCLC Among African Americans.
PMID:32931935
locStra: Fast analysis of regional/global stratification in whole-genome sequencing studies.
PMID:32929743
The Landscape of Micro-Inversions Provide Clues for Population Genetic Analysis of Humans.
PMID:32929667
What is the meaning of a 'genomic result' in the context of pregnancy?
PMID:32929236
The mutational landscape of histiocytic sarcoma associated with lymphoid malignancy.
PMID:32929178
A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing.
PMID:32929119
DNA methylation mediates the effect of cocaine use on HIV severity.
PMID:32928285
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.
PMID:32928027
Variation in genes implicated in B-cell development and antibody production affects susceptibility to pemphigus.
PMID:32926429
PCAmatchR: a flexible R package for optimal case-control matching using weighted principal components.
PMID:32926120
The causal effect of obesity on prediabetes and insulin resistance reveals the important role of adipose tissue in insulin resistance.
PMID:32925908
Integration of multiomic annotation data to prioritize and characterize inflammation and immune-related risk variants in squamous cell lung cancer.
PMID:32924180
Subsequent Neoplasm Risk Associated With Rare Variants in DNA Damage Response and Clinical Radiation Sensitivity Syndrome Genes in the Childhood Cancer Survivor Study.
PMID:32923912
Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta.
PMID:32922437
A graph-based approach identifies dynamic H-bond communication networks in spike protein S of SARS-CoV-2.
PMID:32919067
Dutch population structure across space, time and GWAS design.
PMID:32917883
Mosaicism in Human Health and Disease.
PMID:32916079
Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4.
PMID:32915910
A whole-genome sequenced control population in northern Sweden reveals subregional genetic differences.
PMID:32915809
Primo: integration of multiple GWAS and omics QTL summary statistics for elucidation of molecular mechanisms of trait-associated SNPs and detection of pleiotropy in complex traits.
PMID:32912334
Impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx.
PMID:32912333
Optimizing the genetic prediction of the eye and hair color for North Eurasian populations.
PMID:32912208
Current State of Evidence: Influence of Nutritional and Nutrigenetic Factors on Immunity in the COVID-19 Pandemic Framework.
PMID:32911778
Genetic Structural Differentiation Analyses of Intercontinental Populations and Ancestry Inference of the Chinese Hui Group Based on a Novel Developed Autosomal AIM-InDel Genotyping System.
PMID:32908873
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
PMID:32906214
Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population.
PMID:32902719
Polygenic architecture informs potential vulnerability to drug-induced liver injury.
PMID:32895570
Malignant transformation and genetic alterations are uncoupled in early colorectal cancer progression.
PMID:32895052
Bayesian copy number detection and association in large-scale studies.
PMID:32894098
Biomarkers, Master Regulators and Genomic Fabric Remodeling in a Case of Papillary Thyroid Carcinoma.
PMID:32887258
A Highly Polymorphic Panel Consisting of Microhaplotypes and Compound Markers with the NGS and Its Forensic Efficiency Evaluations in Chinese Two Groups.
PMID:32883034
Intronic TP53 Polymorphisms Are Associated with Increased Δ133TP53 Transcript, Immune Infiltration and Cancer Risk.
PMID:32882831
Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma.
PMID:32881892
Genetic variations in the drug metabolizing enzyme, CYP2E1, among various ethnic populations of Pakistan.
PMID:32879799
Sex-biased patterns shaped the genetic history of Roma.
PMID:32879340
Polygenic Scores for Height in Admixed Populations.
PMID:32878958
Heritability of haemodynamics in the ascending aorta.
PMID:32873833
A mega-analysis of expression quantitative trait loci in retinal tissue.
PMID:32870927
Evolutionary and Functional Analysis of Korean Native Pig Using Single Nucleotide Polymorphisms.
PMID:32868490
Inherited Rare, Deleterious Variants in ATM Increase Lung Adenocarcinoma Risk.
PMID:32866655
Efficient gene-environment interaction tests for large biobank-scale sequencing studies.
PMID:32864785
Integrated analysis of whole genome and transcriptome sequencing in a young patient with gastric cancer provides insights for precision therapy.
PMID:32863928
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.
PMID:32859249
Germline DNMT3A mutation in familial acute myeloid leukaemia.
PMID:32856987
Association of Known Melanoma Risk Factors with Primary Melanoma of the Scalp and Neck.
PMID:32856602
Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early-onset Parkinson's disease.
PMID:32856414
Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus.
PMID:32855706
Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling.
PMID:32853466
Learning the properties of adaptive regions with functional data analysis.
PMID:32853200
regSNPs-ASB: A Computational Framework for Identifying Allele-Specific Transcription Factor Binding From ATAC-seq Data.
PMID:32850739
DINTD: Detection and Inference of Tandem Duplications From Short Sequencing Reads.
PMID:32849857
MicroHapDB: A Portable and Extensible Database of All Published Microhaplotype Marker and Frequency Data.
PMID:32849792
Methylation vs. Protein Inflammatory Biomarkers and Their Associations With Cardiovascular Function.
PMID:32849535
PSCAN: Spatial scan tests guided by protein structures improve complex disease gene discovery and signal variant detection.
PMID:32847609
Single-Cell Transcriptome Analysis of Colon Cancer Cell Response to 5-Fluorouracil-Induced DNA Damage.
PMID:32846134
ACE2 coding variants in different populations and their potential impact on SARS-CoV-2 binding affinity.
PMID:32844124
Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease.
PMID:32843070
Dissecting maternal and fetal genetic effects underlying the associations between maternal phenotypes, birth outcomes, and adult phenotypes: A mendelian-randomization and haplotype-based genetic score analysis in 10,734 mother-infant pairs.
PMID:32841251
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
PMID:32827758
Machine learning for effectively avoiding overfitting is a crucial strategy for the genetic prediction of polygenic psychiatric phenotypes.
PMID:32826857
Broad host range of SARS-CoV-2 predicted by comparative and structural analysis of ACE2 in vertebrates.
PMID:32826334
Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals.
PMID:32825847
Amerindian Ancestry Influences Genetic Susceptibility to Chronic Obstructive Pulmonary Disease.
PMID:32824824
Critical Analysis of Genome-Wide Association Studies: Triple Negative Breast Cancer Quae Exempli Causa.
PMID:32823908
A Forensic Genomics Approach for the Identification of Sister Marija Crucifiksa Kozulić.
PMID:32823826
Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.
PMID:32822427
A novel homozygous KY variant causing a complex neurological disorder.
PMID:32818658
Partitioning gene-based variance of complex traits by gene score regression.
PMID:32817676
Functional Impact of the G279S Substitution in the Adenosine A1-Receptor (A1R-G279S7.44), a Mutation Associated with Parkinson's Disease.
PMID:32817461
Multiomic blood correlates of genetic risk identify presymptomatic disease alterations.
PMID:32817414
A polygenic risk score analysis of ASD and ADHD across emotion recognition subtypes.
PMID:32815639
High genetic burden of type 2 diabetes can promote the high prevalence of disease: a longitudinal cohort study in Iran.
PMID:32814780
SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants.
PMID:32813752
Clinical implications of prospective genomic profiling of metastatic breast cancer patients.
PMID:32811538
Association of Established Blood Pressure Loci With 10-Year Change in Blood Pressure and Their Ability to Predict Incident Hypertension.
PMID:32805198
Ex vivo Improvement of a von Willebrand Disease Type 2A Phenotype Using an Allele-Specific Small-Interfering RNA.
PMID:32803740
GEN2VCF: a converter for human genome imputation output format to VCF format.
PMID:32803703
The evolution of universal adaptations of life is driven by universal properties of matter: energy, entropy, and interaction.
PMID:32802320
Inferring the ancestry of parents and grandparents from genetic data.
PMID:32797037
Analysis of rare variants of autosomal-dominant genes in a Chinese population with sporadic Parkinson's disease.
PMID:32794657
Identification of Undetected Monogenic Cardiovascular Disorders.
PMID:32792077
Independent replications and integrative analyses confirm TRANK1 as a susceptibility gene for bipolar disorder.
PMID:32791513
Genome-wide association analysis of pulse wave velocity traits provide new insights into the causal relationship between arterial stiffness and blood pressure.
PMID:32790701
A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping.
PMID:32789024
Genetic variants modulate gene expression statin response in human lymphoblastoid cell lines.
PMID:32787775
SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo.
PMID:32785571
Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
PMID:32783359
Gastric Microbiome Diversities in Gastric Cancer Patients from Europe and Asia Mimic the Human Population Structure and Are Partly Driven by Microbiome Quantitative Trait Loci.
PMID:32781641
High Levels of Genetic Diversity within Nilo-Saharan Populations: Implications for Human Adaptation.
PMID:32781046
Detecting Allele-Specific Alternative Splicing from Population-Scale RNA-Seq Data.
PMID:32781045
The role of exome sequencing in newborn screening for inborn errors of metabolism.
PMID:32778825
ContamLD: estimation of ancient nuclear DNA contamination using breakdown of linkage disequilibrium.
PMID:32778142
Endogenization and excision of human herpesvirus 6 in human genomes.
PMID:32776928
Opioid and Dopamine Genes Interact to Predict Naltrexone Response in a Randomized Alcohol Use Disorder Clinical Trial.
PMID:32772383
Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection.
PMID:32771700
GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.
PMID:32769997
Korean Genome Project: 1094 Korean personal genomes with clinical information.
PMID:32766443
Association study in Mexican patients with thyrotoxic hypokalemic periodic paralysis.
PMID:32765863
Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders.
PMID:32764605
Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians.
PMID:32762905
VariantSpark: Cloud-based machine learning for association study of complex phenotype and large-scale genomic data.
PMID:32761098
Genetic variability in the expression of the SARS-CoV-2 host cell entry factors across populations.
PMID:32759995
Combined Utility of 25 Disease and Risk Factor Polygenic Risk Scores for Stratifying Risk of All-Cause Mortality.
PMID:32758451
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.
PMID:32758447
Expanded genetic insight and clinical experience of DNMT1-complex disorder.
PMID:32754641
Investigation of Human IFITM3 Polymorphisms rs34481144A and rs12252C and Risk for Influenza A(H1N1)pdm09 Severity in a Brazilian Cohort.
PMID:32754450
Evolution of a Human-Specific Tandem Repeat Associated with ALS.
PMID:32750315
Ancient genomes in South Patagonia reveal population movements associated with technological shifts and geography.
PMID:32747648
Changes in life history and population size can explain the relative neutral diversity levels on X and autosomes in extant human populations.
PMID:32747577
Precision medicine for pancreatic diseases.
PMID:32740003
Theoretical and empirical quantification of the accuracy of polygenic scores in ancestry divergent populations.
PMID:32737319
Distinct genetic architectures and environmental factors associate with host response to the γ2-herpesvirus infections.
PMID:32737300
Novel mutation identified in Leber congenital amaurosis - a case report.
PMID:32736544
Identification of candidate mediators of chemoresponse in breast cancer through therapy-driven selection of somatic variants.
PMID:32734521
Development and validation of Houston Methodist Variant Viewer version 3: updates to our application for interpretation of next-generation sequencing data.
PMID:32734171
Global reference mapping of human transcription factor footprints.
PMID:32728250
Spatiotemporal DNA methylome dynamics of the developing mouse fetus.
PMID:32728242
An atlas of dynamic chromatin landscapes in mouse fetal development.
PMID:32728240
Accurate fetal variant calling in the presence of maternal cell contamination.
PMID:32728107
Detecting sample swaps in diverse NGS data types using linkage disequilibrium.
PMID:32728101
An integrative ENCODE resource for cancer genomics.
PMID:32728046
RADAR: annotation and prioritization of variants in the post-transcriptional regulome of RNA-binding proteins.
PMID:32727537
PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development.
PMID:32726939
Host Genetic Factors Associated with Vaginal Microbiome Composition in Kenyan Women.
PMID:32723796
Neanderthal introgression reintroduced functional ancestral alleles lost in Eurasian populations.
PMID:32719451
Polymorphic mobile element insertions contribute to gene expression and alternative splicing in human tissues.
PMID:32718348
Bovine breed-specific augmented reference graphs facilitate accurate sequence read mapping and unbiased variant discovery.
PMID:32718320
Methods for detecting introgressed archaic sequences.
PMID:32717667
Impute.me: An Open-Source, Non-profit Tool for Using Data From Direct-to-Consumer Genetic Testing to Calculate and Interpret Polygenic Risk Scores.
PMID:32714365
Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records.
PMID:32711518
Synonymous Mutation in DKC1 Causes Telomerase RNA Insufficiency Manifesting as Familial Pulmonary Fibrosis.
PMID:32710892
Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms.
PMID:32710482
Accounting for diverse evolutionary forces reveals mosaic patterns of selection on human preterm birth loci.
PMID:32709900
Epigenome Wide Association and Stochastic Epigenetic Mutation Analysis on Cord Blood of Preterm Birth.
PMID:32708910
Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.
PMID:32707200
Genetic Consequences of the Transatlantic Slave Trade in the Americas.
PMID:32707084
PhaseME: Automatic rapid assessment of phasing quality and phasing improvement.
PMID:32706368
Conserved mammalian modularity of quantitative trait loci revealed human functional orthologs in blood pressure control.
PMID:32702059
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis.
PMID:32699404
Gene mapping and functional annotation of GWAS of oral ulcers using FUMA software.
PMID:32699208
Khoe-San Genomes Reveal Unique Variation and Confirm the Deepest Population Divergence in Homo sapiens.
PMID:32697301
Y-Chromosome Variation in Southern African Khoe-San Populations Based on Whole-Genome Sequences.
PMID:32697300
Exploration of Reduced Doses and Short-Cycle Therapy for Darunavir/Cobicistat in Patients with HIV Using Population Pharmacokinetic Modeling and Simulations.
PMID:32696441
ABCB1 Genetic Variants as Predictors of Irinotecan-Induced Severe Gastrointestinal Toxicity in Metastatic Colorectal Cancer Patients.
PMID:32695000
Responsible, practical genomic data sharing that accelerates research.
PMID:32694666
Bayesian modelling of high-throughput sequencing assays with malacoda.
PMID:32692749
Co-option of the lineage-specific LAVA retrotransposon in the gibbon genome.
PMID:32690705
Human Hepatitis B Viral Infection Outcomes Are Linked to Naturally Occurring Variants of HLA-DOA That Have Altered Function.
PMID:32690655
Genetic variations in the human severe acute respiratory syndrome coronavirus receptor ACE2 and serine protease TMPRSS2.
PMID:32690544
Recipient and donor genetic variants associated with mortality after allogeneic hematopoietic cell transplantation.
PMID:32687560
Cross-species regulatory sequence activity prediction.
PMID:32687525
Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes.
PMID:32686750
uKIN Combines New and Prior Information with Guided Network Propagation to Accurately Identify Disease Genes.
PMID:32684276
Population genetics: past, present, and future.
PMID:32683493
Heritability and genome-wide association analyses of fasting plasma glucose in Chinese adult twins.
PMID:32682390
The Phenotypic Consequences of Genetic Divergence between Admixed Latin American Populations: Antioquia and Chocó, Colombia.
PMID:32681795
SNP-HLA Reference Consortium (SHLARC): HLA and SNP data sharing for promoting MHC-centric analyses in genomics.
PMID:32681667
ECRG2, a novel transcriptional target of p53, modulates cancer cell sensitivity to DNA damage.
PMID:32681017
Fetal HLA-G mediated immune tolerance and interferon response in preeclampsia.
PMID:32680723
Comprehensive Review on Current Interventions, Diagnostics, and Nanotechnology Perspectives against SARS-CoV-2.
PMID:32680422
Robust genome-wide ancestry inference for heterogeneous datasets: illustrated using the 1,000 genome project with 3D facial images.
PMID:32678112
Leveraging existing GWAS summary data of genetically correlated and uncorrelated traits to improve power for a new GWAS.
PMID:32677173
Fine-scale genomic analyses of admixed individuals reveal unrecognized genetic ancestry components in Argentina.
PMID:32673320
LncRNA MEG3 rs3087918 was associated with a decreased breast cancer risk in a Chinese population: a case-control study.
PMID:32669097
GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution.
PMID:32665690
Avoiding dynastic, assortative mating, and population stratification biases in Mendelian randomization through within-family analyses.
PMID:32665587
Genetic Markers for Later Remission in Response to Early Improvement of Antidepressants.
PMID:32664413
Evolutionary History of the Risk of SNPs for Diffuse-Type Gastric Cancer in the Japanese Population.
PMID:32664326
A Human-Specific Schizophrenia Risk Tandem Repeat Affects Alternative Splicing of a Human-Unique Isoform AS3MTd2d3 and Mushroom Dendritic Spine Density.
PMID:32662510
Inference of population admixture network from local gene genealogies: a coalescent-based maximum likelihood approach.
PMID:32657366
Scleral HIF-1α is a prominent regulatory candidate for genetic and environmental interactions in human myopia pathogenesis.
PMID:32652319
A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness.
PMID:32652002
Pathogenic Mechanisms of Somatic Mutation and Genome Mosaicism in Aging.
PMID:32649873
A Combined Analysis of Genetically Correlated Traits Identifies Genes and Brain Regions for Insomnia.
PMID:32648482
Genome-Wide Association Study Data Reveal Genetic Susceptibility to Chronic Inflammatory Intestinal Diseases and Pancreatic Ductal Adenocarcinoma Risk.
PMID:32641412
Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.
PMID:32640185
Genome scans for selection and introgression based on k-nearest neighbour techniques.
PMID:32639602
Mutations in the exocyst component EXOC2 cause severe defects in human brain development.
PMID:32639540
Phenotypic and Molecular Characterization of Risk Loci Associated With Asthma and Lung Function.
PMID:32638561
Strategies for whole-exome sequencing analysis in a case series study of familial male infertility.
PMID:32637866
Evaluation of the Anti-Tumor Activity of the Humanized Monoclonal Antibody NEO-201 in Preclinical Models of Ovarian Cancer.
PMID:32637350
Innate Viral Sensor MDA5 and Coxsackievirus Interplay in Type 1 Diabetes Development.
PMID:32635205
Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications.
PMID:32635188
Linking protein to phenotype with Mendelian Randomization detects 38 proteins with causal roles in human diseases and traits.
PMID:32628676
Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
PMID:32624572
Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort.
PMID:32624571
Degree of cognitive impairment does not signify early versus late mild cognitive impairment: confirmation based on Alzheimer's disease polygenic risk.
PMID:32623261
Cell-to-cell expression dispersion of B-cell surface proteins is linked to genetic variants in humans.
PMID:32620900
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
PMID:32619640
Multi-parent populations in crops: a toolbox integrating genomics and genetic mapping with breeding.
PMID:32616877
Cystic kidneys in a neonate: do not forget to examine pupils.
PMID:32616536
Postadmixture Selection on Chileans Targets Haplotype Involved in Pigmentation, Thermogenesis and Immune Defense against Pathogens.
PMID:32614437
Homozygote CRIM1 variant is associated with thiopurine-induced neutropenia in leukemic patients with both wildtype NUDT15 and TPMT.
PMID:32611418
Differences in the frequency of genetic variants associated with iron imbalance among global populations.
PMID:32609760
Evaluation of population stratification adjustment using genome-wide or exonic variants.
PMID:32608112
LDtrait: An Online Tool for Identifying Published Phenotype Associations in Linkage Disequilibrium.
PMID:32606005
Evaluation of the VISAGE Basic Tool for Appearance and Ancestry Prediction Using PowerSeq Chemistry on the MiSeq FGx System.
PMID:32604780
Enhancer-Gene Interaction Analyses Identified the Epidermal Growth Factor Receptor as a Susceptibility Gene for Type 2 Diabetes Mellitus.
PMID:32602275
Genetic analyses support the contribution of mRNA N6-methyladenosine (m6A) modification to human disease heritability.
PMID:32601472
Structural variation of the malaria-associated human glycophorin A-B-E region.
PMID:32600246
Predicting Health-Related Quality of Life in Trauma-Exposed Male Veterans in Late Midlife: A 20 Year Longitudinal Study.
PMID:32599875
Targeted RNA sequencing enhances gene expression profiling of ultra-low input samples.
PMID:32597303
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
PMID:32596782
Evaluating the Utility of Polygenic Risk Scores in Identifying High-Risk Individuals for Eight Common Cancers.
PMID:32596635
Suppression of adenosine-to-inosine (A-to-I) RNA editome by death associated protein 3 (DAP3) promotes cancer progression.
PMID:32596459
Review of the Quality Control Checks Performed by Current Genome-Wide and Targeted-Genome Association Studies on Myalgic Encephalomyelitis/Chronic Fatigue Syndrome.
PMID:32596192
Birth Weight and Stroke in Adult Life: Genetic Correlation and Causal Inference With Genome-Wide Association Data Sets.
PMID:32595438
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
PMID:32595206
Allele-specific DNA methylation is increased in cancers and its dense mapping in normal plus neoplastic cells increases the yield of disease-associated regulatory SNPs.
PMID:32594908
Genetic drug target validation using Mendelian randomisation.
PMID:32591531
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.
PMID:32590954
Pervasive Selection against MicroRNA Target Sites in Human Populations.
PMID:32585012
Lack of Association Between Genetic Variants at ACE2 and TMPRSS2 Genes Involved in SARS-CoV-2 Infection and Human Quantitative Phenotypes.
PMID:32582302
Chromosomal alterations among age-related haematopoietic clones in Japan.
PMID:32581364
Ancestry effects on type 2 diabetes genetic risk inference in Hispanic/Latino populations.
PMID:32580712
G6PD variant distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19.
PMID:32577690
WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways.
PMID:32576942
A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis.
PMID:32575372
Identification and genomic analysis of pedigrees with exceptional longevity identifies candidate rare variants.
PMID:32574725
Distinct subtypes of polycystic ovary syndrome with novel genetic associations: An unsupervised, phenotypic clustering analysis.
PMID:32574161
Novel insights on demographic history of tribal and caste groups from West Maharashtra (India) using genome-wide data.
PMID:32572090
Urine 6-Bromotryptophan: Associations with Genetic Variants and Incident End-Stage Kidney Disease.
PMID:32572055
Genetics of kidney traits in worldwide populations: the Continental Origins and Genetic Epidemiology Network (COGENT) Kidney Consortium.
PMID:32571486
The genetic profile of elite youth soccer players and its association with power and speed depends on maturity status.
PMID:32569264
Identification of therapeutic targets from genetic association studies using hierarchical component analysis.
PMID:32565911
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.
PMID:32561755
Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis.
PMID:32560555
Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally?
PMID:32560373
Human Stem Cell Resources Are an Inroad to Neandertal DNA Functions.
PMID:32559457
Evaluation of methods for detecting human reads in microbial sequencing datasets.
PMID:32558637
Metabolomic and genetic associations with insulin resistance in pregnancy.
PMID:32556615
Multiple Genomic Events Altering Hominin SIGLEC Biology and Innate Immunity Predated the Common Ancestor of Humans and Archaic Hominins.
PMID:32556248
VolcanoFinder: Genomic scans for adaptive introgression.
PMID:32555579
Sex differences in the genetic architecture of depression.
PMID:32555505
A dynastic elite in monumental Neolithic society.
PMID:32555485
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.
PMID:32554042
VitiVar: A locus specific database of vitiligo associated genes and variations.
PMID:32550548
High-Throughput Sequencing is a Crucial Tool to Investigate the Contribution of Human Endogenous Retroviruses (HERVs) to Human Biology and Development.
PMID:32545287
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.
PMID:32541925
Ultralow-input single-tube linked-read library method enables short-read second-generation sequencing systems to routinely generate highly accurate and economical long-range sequencing information.
PMID:32540955
Phenotype-specific differences in polygenicity and effect size distribution across functional annotation categories revealed by AI-MiXeR.
PMID:32539089
Validating the doubly weighted genetic risk score for the prediction of type 2 diabetes in the Lifelines and Estonian Biobank cohorts.
PMID:32537749
Genetic Underpinnings of Increased BMI and Its Association With Late Midlife Cognitive Abilities.
PMID:32537479
Construction and forensic application of 20 highly polymorphic microhaplotypes.
PMID:32537197
Genetic variants of VDR and CYP2R1 affect BMI independently of serum vitamin D concentrations.
PMID:32534577
Population-Specific Recombination Maps from Segments of Identity by Descent.
PMID:32533945
Evidence of Polygenic Adaptation in Sardinia at Height-Associated Loci Ascertained from the Biobank Japan.
PMID:32533944
Type 1 diabetes genetic risk score is discriminative of diabetes in non-Europeans: evidence from a study in India.
PMID:32528078
Quantifying Influences on Intragenomic Mutation Rate.
PMID:32527747
Significance of Single-Nucleotide Variants in Long Intergenic Non-protein Coding RNAs.
PMID:32523949
Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats.
PMID:32522985
Whole-genome sequencing of Chinese centenarians reveals important genetic variants in aging WGS of centenarian for genetic analysis of aging.
PMID:32522283
Sequencing and imputation in GWAS: Cost-effective strategies to increase power and genomic coverage across diverse populations.
PMID:32519380
A framework for integrating directed and undirected annotations to build explanatory models of cis-eQTL data.
PMID:32516306
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.
PMID:32514122
Power loss due to testing association between covariate-adjusted traits and genetic variants.
PMID:32511788
Broad Host Range of SARS-CoV-2 Predicted by Comparative and Structural Analysis of ACE2 in Vertebrates.
PMID:32511356
PNPLA3 and nonalcoholic fatty liver disease: towards personalized medicine for fatty liver.
PMID:32509828
Long-read human genome sequencing and its applications.
PMID:32504078
Genome-wide association study identifies genetic susceptibility loci and pathways of radiation-induced acute oral mucositis.
PMID:32503578
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
PMID:32500975
The contribution of tissue-grouped BMI-associated gene sets to cardiometabolic-disease risk: a Mendelian randomization study.
PMID:32500151
A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability.
PMID:32499722
A positively selected FBN1 missense variant reduces height in Peruvian individuals.
PMID:32499652
Identification of type 2 diabetes loci in 433,540 East Asian individuals.
PMID:32499647
Characterisation of a second gain of function EDAR variant, encoding EDAR380R, in East Asia.
PMID:32499598
Runaway multi-allelic copy number variation at the α-defensin locus in African and Asian populations.
PMID:32499510
Unexpected Acetylation of Endogenous Aliphatic Amines by Arylamine N-Acetyltransferase NAT2.
PMID:32497306
Importance of Genetic Studies of Cardiometabolic Disease in Diverse Populations.
PMID:32496918
Systems Genetics for Mechanistic Discovery in Heart Diseases.
PMID:32496909
SNPnexus: a web server for functional annotation of human genome sequence variation (2020 update).
PMID:32496546
Insights into variation in meiosis from 31,228 human sperm genomes.
PMID:32494014
A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer.
PMID:32492864
Association of OPRM1 Functional Coding Variant With Opioid Use Disorder: A Genome-Wide Association Study.
PMID:32492095
Population-specific reference panels are crucial for genetic analyses: an example of the CREBRF locus in Native Hawaiians.
PMID:32491157
The Human Leukocyte Antigen Locus and Rheumatic Heart Disease Susceptibility in South Asians and Europeans.
PMID:32488134
Fine-tuning of Genome-Wide Polygenic Risk Scores and Prediction of Gestational Diabetes in South Asian Women.
PMID:32488059
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.
PMID:32487729
The Impact of Recessive Deleterious Variation on Signals of Adaptive Introgression in Human Populations.
PMID:32487519
MetaCNV - a consensus approach to infer accurate copy numbers from low coverage data.
PMID:32487140
DCDC2 READ1 regulatory element: how temporal processing differences may shape language.
PMID:32486976
Brazilian cohort and genes encoding for drug-metabolizing enzymes and drug transporters.
PMID:32486903
Age-Related Changes in Hair Shaft Protein Profiling and Genetically Variant Peptides.
PMID:32485593
Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology.
PMID:32484228
Trait Insights Gained by Comparing Genome-Wide Association Study Results using Different Chronic Obstructive Pulmonary Disease Definitions.
PMID:32477647
Modulation of CYP2E1 metabolic activity in a cohort of confirmed caffeine ingesting pregnant women with preterm offspring.
PMID:32476096
Identification of pleiotropic genes between risk factors of stroke by multivariate metaCCA analysis.
PMID:32474671
Clonal lineage from normal endometrium to ovarian clear cell carcinoma through ovarian endometriosis.
PMID:32473611
A Genetic History of the Near East from an aDNA Time Course Sampling Eight Points in the Past 4,000 Years.
PMID:32470374
Genome-wide analysis of carotid plaque burden suggests a role of IL5 in men.
PMID:32469969
A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.
PMID:32467344
Flexible Mixture Model Approaches That Accommodate Footprint Size Variability for Robust Detection of Balancing Selection.
PMID:32462188
The effect of LRRK2 loss-of-function variants in humans.
PMID:32461697
Hepatic NADH reductive stress underlies common variation in metabolic traits.
PMID:32461692
Thousands of human sequences provide deep insight into single genomes.
PMID:32461645
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
PMID:32461613
Mapping and characterization of structural variation in 17,795 human genomes.
PMID:32460305
Post-translational Modifications of Opioid Receptors.
PMID:32459993
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
PMID:32457805
Genetic variants drive altered epigenetic regulation of endotoxin response in BTBR macrophages.
PMID:32454135
Pangenome Graphs.
PMID:32453966
Molecular characterization of precise in vivo targeted gene integration in human cells using AAVHSC15.
PMID:32453743
Genome-wide DNA methylation and gene expression patterns reflect genetic ancestry and environmental differences across the Indonesian archipelago.
PMID:32453742
An up-to-date overview of computational polypharmacology in modern drug discovery.
PMID:32452701
Genome-wide meta-analysis of problematic alcohol use in 435,563 individuals yields insights into biology and relationships with other traits.
PMID:32451486
Genomic analysis of the natural history of attention-deficit/hyperactivity disorder using Neanderthal and ancient Homo sapiens samples.
PMID:32451437
A Method for Identification of the Methylation Level of CpG Islands From NGS Data.
PMID:32451390
Maximal Perfect Haplotype Blocks with Wildcards.
PMID:32446220
parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants.
PMID:32444882
Genetic Susceptibility to Chronic Liver Disease in Individuals from Pakistan.
PMID:32443539
Systems Genetics in Human Endothelial Cells Identifies Non-coding Variants Modifying Enhancers, Expression, and Complex Disease Traits.
PMID:32442411
Localizing Components of Shared Transethnic Genetic Architecture of Complex Traits from GWAS Summary Data.
PMID:32442408
3D-GNOME 2.0: a three-dimensional genome modeling engine for predicting structural variation-driven alterations of chromatin spatial structure in the human genome.
PMID:32442297
Prospective avenues for human population genomics and disease mapping in southern Africa.
PMID:32440765
TraPS-VarI: Identifying genetic variants altering phosphotyrosine based signalling motifs.
PMID:32439998
Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.
PMID:32439900
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.
PMID:32439808
Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans.
PMID:32438927
Variants in IL23R-C1orf141 and ADO-ZNF365-EGR2 are associated with susceptibility to Vogt-Koyanagi-Harada disease in Japanese population.
PMID:32437414
Disease Module Identification Based on Representation Learning of Complex Networks Integrated From GWAS, eQTL Summaries, and Human Interactome.
PMID:32435638
β-Carotene Oxygenase 1 Activity Modulates Circulating Cholesterol Concentrations in Mice and Humans.
PMID:32433733
The Birth of Bio-data Science: Trends, Expectations, and Applications.
PMID:32428604
SinoDuplex: An Improved Duplex Sequencing Approach to Detect Low-frequency Variants in Plasma cfDNA Samples.
PMID:32428603
Beyond SNP heritability: Polygenicity and discoverability of phenotypes estimated with a univariate Gaussian mixture model.
PMID:32427991
Extreme differences between human germline and tumor mutation densities are driven by ancestral human-specific deviations.
PMID:32427823
Apolipoprotein L-1 renal risk variants form active channels at the plasma membrane driving cytotoxicity.
PMID:32427098
Defined lifestyle and germline factors predispose Asian populations to gastric cancer.
PMID:32426482
Integrated Analysis of Summary Statistics to Identify Pleiotropic Genes and Pathways for the Comorbidity of Schizophrenia and Cardiometabolic Disease.
PMID:32425817
Quantifying genetic effects on disease mediated by assayed gene expression levels.
PMID:32424349
Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR.
PMID:32424072
Progress, Challenges, and Surprises in Annotating the Human Genome.
PMID:32421357
Efficient toolkit implementing best practices for principal component analysis of population genetic data.
PMID:32415959
The exhaustive genomic scan approach, with an application to rare-variant association analysis.
PMID:32415273
Identification of Distinct Heterogenic Subtypes and Molecular Signatures Associated with African Ancestry in Triple Negative Breast Cancer Using Quantified Genetic Ancestry Models in Admixed Race Populations.
PMID:32414099
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.
PMID:32412666
Minding the gap in HIV host genetics: opportunities and challenges.
PMID:32409920
Integrative genomics approach identifies molecular features associated with early-stage ovarian carcinoma histotypes.
PMID:32409713
Gene networks and expression quantitative trait loci associated with adjuvant chemotherapy response in high-grade serous ovarian cancer.
PMID:32404140
Investigating Human Mitochondrial Genomes in Single Cells.
PMID:32403285
Novel and prevalent non-East Asian ALDH2 variants; Implications for global susceptibility to aldehydes' toxicity.
PMID:32403082
The Genetic Relevance of Human Induced Pluripotent Stem Cell-Derived Microglia to Alzheimer's Disease and Major Neuropsychiatric Disorders.
PMID:32399472
Genome-Wide Association Study of Sleep Disturbances in Depressive Disorders.
PMID:32399468
Association analysis in a Latin American population revealed ethnic differences in rheumatoid arthritis-associated SNPs in Caucasian and Asian populations.
PMID:32398702
Rice 3D chromatin structure correlates with sequence variation and meiotic recombination rate.
PMID:32398676
Forensic features and genetic background exploration of a new 47-autosomal InDel panel in five representative Han populations residing in Northern China.
PMID:32396282
A Custom Genotyping Array Reveals Population-Level Heterogeneity for the Genetic Risks of Prostate Cancer and Other Cancers in Africa.
PMID:32393663
The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
PMID:32392735
A Likelihood Approach for Uncovering Selective Sweep Signatures from Haplotype Data.
PMID:32392293
Association of angiogenesis and inflammation-related gene functional polymorphisms with early-stage breast cancer prognosis.
PMID:32391092
Variation among 532 genomes unveils the origin and evolutionary history of a global insect herbivore.
PMID:32385305
Differentiation of Hispanic biogeographic ancestry with 80 ancestry informative markers.
PMID:32385290
The geometric influence on the Cys2His2 zinc finger domain and functional plasticity.
PMID:32383734
Psychobiotics Regulate the Anxiety Symptoms in Carriers of Allele A of IL-1β Gene: A Randomized, Placebo-Controlled Clinical Trial.
PMID:32377159
Genetic Association Reveals Protection against Recurrence of Clostridium difficile Infection with Bezlotoxumab Treatment.
PMID:32376702
Ancestry Prediction Comparisons of Different AISNPs for Five Continental Populations and Population Structure Dissection of the Xinjiang Hui Group via a Self-Developed Panel.
PMID:32375366
Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian randomization study.
PMID:32373937
Identifying Shared Risk Genes for Asthma, Hay Fever, and Eczema by Multi-Trait and Multiomic Association Analyses.
PMID:32373153
Human Prehistoric Demography Revealed by the Polymorphic Pattern of CpG Transitions.
PMID:32369585
Towards the routine use of in silico screenings for drug discovery using metabolic modelling.
PMID:32369553
MaRe: Processing Big Data with application containers on Apache Spark.
PMID:32369166
Development and validation of next generation sequencing based 35-gene hereditary cancer panel.
PMID:32368312
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
PMID:32367058
Twin Research in the Post-Genomic Era: Dissecting the Pathophysiological Effects of Adversity and the Social Environment.
PMID:32365612
Population-Specific Genetic and Expression Differentiation in Europeans.
PMID:32365201
Predicted efficacy of a pharmacogenetic passport for inflammatory bowel disease.
PMID:32363635
Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report.
PMID:32362910
Population Differentiation at the PVT1 Gene Locus: Implications for Prostate Cancer.
PMID:32358016
Efficiently Summarizing Relationships in Large Samples: A General Duality Between Statistics of Genealogies and Genomes.
PMID:32357960
Genome-wide association study identifies zonisamide responsive gene in Parkinson's disease patients.
PMID:32355309
Targeted analysis of polymorphic loci from low-coverage shotgun sequence data allows accurate genotyping of HLA genes in historical human populations.
PMID:32355290
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
PMID:32355288
Adapting Biased Gene Conversion theory to account for intensive GC-content deterioration in the human genome by novel mutations.
PMID:32353016
A single nucleotide variant of human PARP1 determines response to PARP inhibitors.
PMID:32352035
MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population.
PMID:32350296
Reference exome data for Australian Aboriginal populations to support health-based research.
PMID:32350262
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.
PMID:32349777
Novel mutation of the PRRT2 gene in two cases of paroxysmal kinesigenic dyskinesia: Two case reports.
PMID:32346475
Contribution of common and rare damaging variants in familial forms of bipolar disorder and phenotypic outcome.
PMID:32345981
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.
PMID:32345345
Pharmacogenomic Markers of Methotrexate Response in the Consolidation Phase of Pediatric Acute Lymphoblastic Leukemia Treatment.
PMID:32344632
Extensive Ethnolinguistic Diversity in Vietnam Reflects Multiple Sources of Genetic Diversity.
PMID:32344428
Pleiotropy of polygenic factors associated with focal and generalized epilepsy in the general population.
PMID:32343744
Association of DEAR1 Tagging Single Nucleotide Polymorphisms With Breast Cancer in a Sample of Colombian Population: A Case Control Study.
PMID:32341648
Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease.
PMID:32341526
VarFish: comprehensive DNA variant analysis for diagnostics and research.
PMID:32338743
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases.
PMID:32330418
Partitioning heritability analyses unveil the genetic architecture of human brain multidimensional functional connectivity patterns.
PMID:32329556
Admixture and natural selection shaped genomes of an Austronesian-speaking population in the Solomon Islands.
PMID:32327716
Mycobacterium tuberculosis associated with severe tuberculosis evades cytosolic surveillance systems and modulates IL-1β production.
PMID:32327653
Lung Function in African American Children with Asthma Is Associated with Novel Regulatory Variants of the KIT Ligand KITLG/SCF and Gene-By-Air-Pollution Interaction.
PMID:32327564
Advancing clinical cohort selection with genomics analysis on a distributed platform.
PMID:32324802
Phenotypic and functional translation of IL1RL1 locus polymorphisms in lung tissue and asthmatic airway epithelium.
PMID:32324168
Detection of Allosteric Effects of lncRNA Secondary Structures Altered by SNPs in Human Diseases.
PMID:32322582
Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate.
PMID:32318854
Genetic Contributions to Multivariate Data-Driven Brain Networks Constructed via Source-Based Morphometry.
PMID:32318716
Identification of Candidate Genes Associated with Susceptibility to Ovarian Clear Cell Adenocarcinoma Using cis-eQTL Analysis.
PMID:32316112
Admixture mapping identifies genetic regions associated with blood pressure phenotypes in African Americans.
PMID:32315356
Genome-wide association study of Buruli ulcer in rural Benin highlights role of two LncRNAs and the autophagy pathway.
PMID:32313116
A Matrilineal Genetic Perspective of Hanging Coffin Custom in Southern China and Northern Thailand.
PMID:32304863
Rs9939609 polymorphism of the fat mass and obesity-associated (FTO) gene and metabolic syndrome susceptibility in the Chinese population: a meta-analysis.
PMID:32303904
Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia.
PMID:32296054
Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.
PMID:32294086
Functional and genomic characterization of three novel cell lines derived from a metastatic gallbladder cancer tumor.
PMID:32293552
HiNT: a computational method for detecting copy number variations and translocations from Hi-C data.
PMID:32293513
A negative storage model for precise but compact storage of genetic variation data.
PMID:32293013
Serum Uric Acid Level and Multiple Sclerosis: A Mendelian Randomization Study.
PMID:32292418
Integrating structural and evolutionary data to interpret variation and pathogenicity in adapter protein complex 4.
PMID:32285480
DRAMS: A tool to detect and re-align mixed-up samples for integrative studies of multi-omics data.
PMID:32282793
Improving the coverage of credible sets in Bayesian genetic fine-mapping.
PMID:32282791
Cystic fibrosis transmembrane conductance regulator function, not TAS2R38 gene haplotypes, predict sinus surgery in children and young adults with cystic fibrosis.
PMID:32282124
Association of Klotho-VS Heterozygosity With Risk of Alzheimer Disease in Individuals Who Carry APOE4.
PMID:32282020
A powerful and versatile colocalization test.
PMID:32275709
Genetic variability in response to amyloid beta deposition influences Alzheimer's disease risk.
PMID:32274467
Prevalence of clinically actionable disease variants in exceptionally long-lived families.
PMID:32272925
Copy number variation in human genomes from three major ethno-linguistic groups in Africa.
PMID:32272904
Human Leukocyte Antigen B*14:01 and B*35:01 Are Associated With Trimethoprim-Sulfamethoxazole Induced Liver Injury.
PMID:32270503
Genetic Characterization of Molecular Targets in Korean Patients with Gastrointestinal Stromal Tumors.
PMID:32269842
The dental proteome of Homo antecessor.
PMID:32269345
Differences in gene-expression profiles in breast cancer between African and European-ancestry women.
PMID:32267939
DNA sequence symmetries from randomness: the origin of the Chargaff's second parity rule.
PMID:32266404
Hereditary Trichilemmal Cysts are Caused by Two Hits to the Same Copy of the Phospholipase C Delta 1 Gene (PLCD1).
PMID:32265483
A Machine Learning-Based Identification of Genes Affecting the Pharmacokinetics of Tacrolimus Using the DMETTM Plus Platform.
PMID:32260456
Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy.
PMID:32256442
Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure.
PMID:32256302
Phase I Trial of Trametinib with Neoadjuvant Chemoradiation in Patients with Locally Advanced Rectal Cancer.
PMID:32253228
Laniakea: an open solution to provide Galaxy "on-demand" instances over heterogeneous cloud infrastructures.
PMID:32252069
Cell Type-Specific Intralocus Interactions Reveal Oligodendrocyte Mechanisms in MS.
PMID:32246942
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
PMID:32246154
MI-MAAP: marker informativeness for multi-ancestry admixed populations.
PMID:32245404
Genotyping Array Design and Data Quality Control in the Million Veteran Program.
PMID:32243820
Loss-of-function tolerance of enhancers in the human genome.
PMID:32243438
Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration.
PMID:32242144
Defining Individual-Level Genetic Diversity and Similarity Profiles.
PMID:32242069
Ancestry deconvolution and partial polygenic score can improve susceptibility predictions in recently admixed individuals.
PMID:32242022
Adaptive Fisher method detects dense and sparse signals in association analysis of SNV sets.
PMID:32241265
Comprehensive functional annotation of susceptibility variants associated with asthma.
PMID:32240371
A Family-Based Genome Wide Association Study of Externalizing Behaviors.
PMID:32239439
Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients.
PMID:32238385
Analysis of Haplotypic Variation and Deletion Polymorphisms Point to Multiple Archaic Introgression Events, Including from Altai Neanderthal Lineage.
PMID:32234956
A population-based approach for gene prioritization in understanding complex traits.
PMID:32232557
Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era.
PMID:32231685
Continuous Theta-Burst Stimulation in Children With High-Functioning Autism Spectrum Disorder and Typically Developing Children.
PMID:32231523
Precision Medicine in Lifestyle Medicine: The Way of the Future?
PMID:32231483
Minimal phenotyping yields genome-wide association signals of low specificity for major depression.
PMID:32231276
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS).
PMID:32231217
The genome-wide landscape of C:G > T:A polymorphism at the CpG contexts in the human population.
PMID:32228436
Influence of POR*28 Polymorphisms on CYP3A5*3-Associated Variations in Tacrolimus Blood Levels at an Early Stage after Liver Transplantation.
PMID:32225074
The Effect of PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) Inhibition on the Risk of Venous Thromboembolism.
PMID:32223429
Evolutionary Selection and Constraint on Human Knee Chondrocyte Regulation Impacts Osteoarthritis Risk.
PMID:32220312
Recruiting diversity where it exists: The Alabama Genomic Health Initiative.
PMID:32220047
The Origin and Composition of Korean Ethnicity Analyzed by Ancient and Present-Day Genome Sequences.
PMID:32219389
Polygenic risk scores for coronary artery disease and subsequent event risk amongst established cases.
PMID:32219344
Exploring the Consistency of the Quality Scores with Machine Learning for Next-Generation Sequencing Experiments.
PMID:32219145
Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction.
PMID:32218440
Microbiome analyses of blood and tissues suggest cancer diagnostic approach.
PMID:32214244
A common MET polymorphism harnesses HER2 signaling to drive aggressive squamous cell carcinoma.
PMID:32214092
Association between GLP-1 receptor gene polymorphisms with reward learning, anhedonia and depression diagnosis.
PMID:32213216
A Fine-Scale Genetic Map for Vervet Monkeys.
PMID:32211856
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism.
PMID:32211515
Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing.
PMID:32211398
No Evidence of Persistence or Inheritance of Mitochondrial DNA Copy Number in Holocaust Survivors and Their Descendants.
PMID:32211017
Melanogenic Difference Consideration in Ethnic Skin Type: A Balance Approach Between Skin Brightening Applications and Beneficial Sun Exposure.
PMID:32210602
Association of G6PD variants with hemoglobin A1c and impact on diabetes diagnosis in East Asian individuals.
PMID:32209585
The prognostic significance of immune microenvironment in breast ductal carcinoma in situ.
PMID:32203210
Sport and exercise genomics: the FIMS 2019 consensus statement update.
PMID:32201388
Genome-wide Association Analysis of Parkinson's Disease and Schizophrenia Reveals Shared Genetic Architecture and Identifies Novel Risk Loci.
PMID:32201043
Fast and robust ancestry prediction using principal component analysis.
PMID:32196066
B Cells as Prognostic Biomarker After Surgery for Colorectal Liver Metastases.
PMID:32195184
Allele-specific genome targeting in the development of precision medicine.
PMID:32194858
webGQT: A Shiny Server for Genotype Query Tools for Model-Based Variant Filtering.
PMID:32194629
Identification of a functional human-unique 351-bp Alu insertion polymorphism associated with major depressive disorder in the 1p31.1 GWAS risk loci.
PMID:32193514
Genetic landscape of autism spectrum disorder in Vietnamese children.
PMID:32193494
Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations.
PMID:32193382
Insights into human genetic variation and population history from 929 diverse genomes.
PMID:32193295
Abundance of conserved CRISPR-Cas9 target sites within the highly polymorphic genomes of Anopheles and Aedes mosquitoes.
PMID:32188851
Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics.
PMID:32185475
Translation of mouse model to human gives insights into periodontitis etiology.
PMID:32184465
Further confirmation of netrin 1 receptor (DCC) as a depression risk gene via integrations of multi-omics data.
PMID:32184385
Variant effect predictions capture some aspects of deep mutational scanning experiments.
PMID:32183714
Efficient Construction of a Complete Index for Pan-Genomics Read Alignment.
PMID:32181684
Comparative pharmacokinetics of maxacalcitol in healthy Taiwanese and Japanese subjects.
PMID:32181403
Enabling population assignment from cancer genomes with SNP2pop.
PMID:32179800
Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of Glycosylation.
PMID:32174980
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke.
PMID:32172663
Genome Dashboards: Framework and Examples.
PMID:32171420
Selected neuropeptide genes show genetic differentiation between Africans and non-Africans.
PMID:32171244
Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics.
PMID:32171239
Profiling haplotype specific CpG and CpH methylation within a schizophrenia GWAS locus on chromosome 14 in schizophrenia and healthy subjects.
PMID:32170143
Diverse types of genomic evidence converge on alcohol use disorder risk genes.
PMID:32170004
Distribution of variants in multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP24A1, VDR, RXRα and RXRγ) vary between European, East-Asian and Sub-Saharan African-ancestry populations.
PMID:32169032
Quantitative genetic analysis deciphers the impact of cis and trans regulation on cell-to-cell variability in protein expression levels.
PMID:32168362
Comparative genomic analysis of inbred rat strains reveals the existence of ancestral polymorphisms.
PMID:32166433
Causal relationships between NAFLD, T2D and obesity have implications for disease subphenotyping.
PMID:32165250
CHOP: haplotype-aware path indexing in population graphs.
PMID:32160922
DNA methylation QTL analysis identifies new regulators of human longevity.
PMID:32160291
Identifying and Classifying Shared Selective Sweeps from Multilocus Data.
PMID:32152048
Hemispheric asymmetry in the human brain and in Parkinson's disease is linked to divergent epigenetic patterns in neurons.
PMID:32151270
A decision tree to improve identification of pathogenic mutations in clinical practice.
PMID:32151256
The decreased expression of IKBKE in systemic lupus erythematosus.
PMID:32146614
Proceed with Caution: STAT1 GOF Diagnosis Missed Due to Intronic SNP.
PMID:32146551
Limited Evidence for Selection at the FADS Locus in Native American Populations.
PMID:32145021
Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features.
PMID:32144282
Genetic Risk for Hepatic Fat among an Ethnically Diverse Cohort of Youth: The Exploring Perinatal Outcomes among Children Study.
PMID:32143931
Population Histories of the United States Revealed through Fine-Scale Migration and Haplotype Analysis.
PMID:32142644
A genetic variant in microRNA-146a is associated with sporadic breast cancer in a Southern Brazilian Population.
PMID:32142098
Evaluating the promise of inclusion of African ancestry populations in genomics.
PMID:32140257
Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population.
PMID:32139841
InvBFM: finding genomic inversions from high-throughput sequence data based on feature mining.
PMID:32138660
Brain aging comprises many modes of structural and functional change with distinct genetic and biophysical associations.
PMID:32134384
Mendelian randomisation analysis of circulating adipokines and C-reactive protein on breast cancer risk.
PMID:32134113
Genome-wide Association Study of Creativity Reveals Genetic Overlap With Psychiatric Disorders, Risk Tolerance, and Risky Behaviors.
PMID:32133506
Comparative genetic analysis of the novel coronavirus (2019-nCoV/SARS-CoV-2) receptor ACE2 in different populations.
PMID:32133153
Germline Features Associated with Immune Infiltration in Solid Tumors.
PMID:32130895
Human genetics and malaria resistance.
PMID:32130487
A hidden cause of infertility in hypothyroid patients.
PMID:32128192
Identification of rare variants in novel candidate genes in pulmonary atresia patients by next generation sequencing.
PMID:32128068
Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.
PMID:32127641
Development of genetic quality tests for good manufacturing practice-compliant induced pluripotent stem cells and their derivatives.
PMID:32127560
Validation and implementation of a modular targeted capture assay for the detection of clinically significant molecular oncology alterations.
PMID:32123717
Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects.
PMID:32115903
The genetics of situs inversus without primary ciliary dyskinesia.
PMID:32111882
Comprehensive characterization of cell-free tumor DNA in plasma and urine of patients with renal tumors.
PMID:32111235
Unusual sequence characteristics of human chromosome 19 are conserved across 11 nonhuman primates.
PMID:32106815
Genetic Modifiers and Rare Mendelian Disease.
PMID:32106447
Association of a Variant in VWA3A with Response to Anti-Vascular Endothelial Growth Factor Treatment in Neovascular AMD.
PMID:32106291
Genetic Diversity in Drug Transporters: Impact in African Populations.
PMID:32100958
Leveraging genome-wide data to investigate differences between opioid use vs. opioid dependence in 41,176 individuals from the Psychiatric Genomics Consortium.
PMID:32099098
Family Study Designs Informed by Tumor Heterogeneity and Multi-Cancer Pleiotropies: The Power of the Utah Population Database.
PMID:32098891
Recovering signals of ghost archaic introgression in African populations.
PMID:32095519
Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia.
PMID:32094358
Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates.
PMID:32094344
Independent and joint correlation of PNPLA3 I148M and TM6SF2 E167K variants with the risk of coronary heart disease in patients with non-alcoholic fatty liver disease.
PMID:32093693
Two Novel FAM20C Variants in A Family with Raine Syndrome.
PMID:32093234
Allele-Selective Knockdown of MYH7 Using Antisense Oligonucleotides.
PMID:32092825
Patterns of African and Asian admixture in the Afrikaner population of South Africa.
PMID:32089133
neoANT-HILL: an integrated tool for identification of potential neoantigens.
PMID:32087727
Passenger Mutations in More Than 2,500 Cancer Genomes: Overall Molecular Functional Impact and Consequences.
PMID:32084333
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.
PMID:32081864
Genome-wide association study for time to failure of kidney transplants from African American deceased donors.
PMID:32080893
A framework for transcriptome-wide association studies in breast cancer in diverse study populations.
PMID:32079541
Predicting the Landscape of Recombination Using Deep Learning.
PMID:32077950
Genome-wide assessment of genetic risk for systemic lupus erythematosus and disease severity.
PMID:32077931
FTO Variant rs1421085 Associates With Increased Body Weight, Soft Lean Mass, and Total Body Water Through Interaction With Ghrelin and Apolipoproteins in Arab Population.
PMID:32076432
A chromosomal connectome for psychiatric and metabolic risk variants in adult dopaminergic neurons.
PMID:32075678
Human transposon insertion profiling by sequencing (TIPseq) to map LINE-1 insertions in single cells.
PMID:32075555
Contribution of unfixed transposable element insertions to human regulatory variation.
PMID:32075552
The Temporal Dynamics of Background Selection in Nonequilibrium Populations.
PMID:32071195
Genome-Wide Selection Scan in an Arabian Peninsula Population Identifies a TNKS Haplotype Linked to Metabolic Traits and Hypertension.
PMID:32068798
Allele-specific expression changes dynamically during T cell activation in HLA and other autoimmune loci.
PMID:32066938
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
PMID:32066871
Exome Sequencing in Individuals with Isolated Biliary Atresia.
PMID:32066793
Genomic influences on self-reported childhood maltreatment.
PMID:32066696
Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.
PMID:32064741
Influence of Genetic Ancestry on Human Serum Proteome.
PMID:32059761
Mitochondrial genome-wide association study of migraine - the HUNT Study.
PMID:32056457
Finding all maximal perfect haplotype blocks in linear time.
PMID:32055252
An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.
PMID:32051525
Novel Mutation Hotspots within Non-Coding Regulatory Regions of the Chronic Lymphocytic Leukemia Genome.
PMID:32051441
Polygenic Risk Scores and Physical Activity.
PMID:32049886
Power calculation for the general two-sample Mendelian randomization analysis.
PMID:32048336
Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.
PMID:32046290
Precision Medicine in Non-Communicable Diseases.
PMID:32046063
The genetic history of France.
PMID:32042083
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
PMID:32041611
An Isolated Complex V Inefficiency and Dysregulated Mitochondrial Function in Immortalized Lymphocytes from ME/CFS Patients.
PMID:32041178
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
PMID:32039725
Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome.
PMID:32038717
Machine Learning Algorithm for Predicting Warfarin Dose in Caribbean Hispanics Using Pharmacogenetic Data.
PMID:32038238
Pan-genomics in the human genome era.
PMID:32034321
Anti-Factor B Antibodies and Acute Postinfectious GN in Children.
PMID:32034108
Renoprotective and Immunomodulatory Effects of GDF15 following AKI Invoked by Ischemia-Reperfusion Injury.
PMID:32034106
Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage.
PMID:32029882
Single-cell ATAC-Seq in human pancreatic islets and deep learning upscaling of rare cells reveals cell-specific type 2 diabetes regulatory signatures.
PMID:32029221
Admixture-enabled selection for rapid adaptive evolution in the Americas.
PMID:32028992
Pan-cancer analysis of whole genomes.
PMID:32025007
Butler enables rapid cloud-based analysis of thousands of human genomes.
PMID:32024987
Prediction of short-term neonatal complications in preterm infants using exome-wide genetic variation and gestational age: a pilot study.
PMID:32023625
Genomic landscape of the signals of positive natural selection in populations of Northern Eurasia: A view from Northern Russia.
PMID:32023328
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.
PMID:32022462
Whole-proteome tree of life suggests a deep burst of organism diversity.
PMID:32019884
Genome-Wide Association Study of Cryptosporidiosis in Infants Implicates PRKCA.
PMID:32019797
AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.
PMID:32019565
Common variation in FAM155A is associated with diverticulitis but not diverticulosis.
PMID:32015353
Influence of Germline Genetics on Tacrolimus Pharmacokinetics and Pharmacodynamics in Allogeneic Hematopoietic Stem Cell Transplant Patients.
PMID:32013193
Rapid, Paralog-Sensitive CNV Analysis of 2457 Human Genomes Using QuicK-mer2.
PMID:32013076
Genomic Landscape of Young-Onset Bladder Cancer and Its Prognostic Implications on Adult Bladder Cancer.
PMID:32012866
BetaScan2: Standardized Statistics to Detect Balancing Selection Utilizing Substitution Data.
PMID:32011695
DSNetwork: An Integrative Approach to Visualize Predictions of Variants' Deleteriousness.
PMID:32010198
On the Extent of Linkage Disequilibrium in the Genome of Farm Animals.
PMID:32010183
Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.
PMID:32009526
Stable expansion of high-grade serous ovarian cancer organoids requires a low-Wnt environment.
PMID:32009247
Pharmacogenetic investigation of efficacy response to mepolizumab in eosinophilic granulomatosis with polyangiitis.
PMID:32009195
The impact of bone marrow stromal antigen-2 (BST2) gene variants on HIV-1 control in black South African individuals.
PMID:32006707
Education, intelligence and Alzheimer's disease: evidence from a multivariable two-sample Mendelian randomization study.
PMID:32003800
JASS: command line and web interface for the joint analysis of GWAS results.
PMID:32002517
DNA identification of compromised samples with massive parallel sequencing.
PMID:32002491
Polygenic risk for coronary heart disease acts through atherosclerosis in type 2 diabetes.
PMID:32000781
Genetic Polymorphisms and Forensic Efficiencies of a Set of Novel Autosomal InDel Markers in a Chinese Mongolian Group.
PMID:31998787
Whole Exome Sequencing Study of Parkinson Disease and Related Endophenotypes in the Italian Population.
PMID:31998221
Genotype phasing in pedigrees using whole-genome sequence data.
PMID:31996801
Clinical Genome Data Model (cGDM) provides Interactive Clinical Decision Support for Precision Medicine.
PMID:31996707
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
PMID:31996269
Camptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation.
PMID:31991853
Genetic variants of innate immunity receptors are associated with mortality in cirrhotic patients with bacterial infection.
PMID:31991025
Assigning forensic body fluids to donors in mixed body fluids by targeted RNA/DNA deep sequencing of coding region SNPs.
PMID:31989244
Identification of a novel uterine leiomyoma GWAS locus in a Japanese population.
PMID:31988393
Human polymorphisms in GSDMD alter the inflammatory response.
PMID:31988247
Bivartect: accurate and memory-saving breakpoint detection by direct read comparison.
PMID:31985791
Personal tumor antigens in blood malignancies: genomics-directed identification and targeting.
PMID:31985488
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
PMID:31983240
Ancestry-agnostic estimation of DNA sample contamination from sequence reads.
PMID:31980570
Accuracy of Imputation for Apolipoprotein E ε Alleles in Genome-Wide Genotyping Data.
PMID:31977056
Osteoporosis- and obesity-risk interrelationships: an epigenetic analysis of GWAS-derived SNPs at the developmental gene TBX15.
PMID:31975641
Lack of Association Between the CCR5-delta32 Polymorphism and Neurodegenerative Disorders.
PMID:31972607
Heterogeneity in the distribution of 159 drug-response related SNPs in world populations and their genetic relatedness.
PMID:31971968
Germline cancer predisposition variants and pediatric glioma: a population-based study in California.
PMID:31970404
An integrated analysis of public genomic data unveils a possible functional mechanism of psoriasis risk via a long-range ERRFI1 enhancer.
PMID:31969149
Contribution of Known Genetic Risk Variants to Dyslipidemias and Type 2 Diabetes in Mexico: A Population-Based Nationwide Study.
PMID:31968565
Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects.
PMID:31964908
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
PMID:31964835
Polymorphisms in dipeptidyl peptidase 4 reduce host cell entry of Middle East respiratory syndrome coronavirus.
PMID:31964246
Genome-wide scan identifies novel genetic loci regulating salivary metabolite levels.
PMID:31960908
Single nucleotide polymorphism heritability and differential patterns of genetic overlap between inattention and four neurocognitive factors in youth.
PMID:31959275
Genetic factors and risk of type 2 diabetes among women with a history of gestational diabetes: findings from two independent populations.
PMID:31958311
Polygenic contributions to alcohol use and alcohol use disorders across population-based and clinically ascertained samples.
PMID:31955720
From Summary Statistics to Gene Trees: Methods for Inferring Positive Selection.
PMID:31954511
Dating genomic variants and shared ancestry in population-scale sequencing data.
PMID:31951611
Maternal cardiometabolic factors and genetic ancestry influence epigenetic aging of the placenta.
PMID:31948495
Deep genotype imputation captures virtually all heritability of autoimmune vitiligo.
PMID:31943001
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
PMID:31941532
Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing.
PMID:31940362
IL10 rs1800872 Is Associated with Non-Steroidal Anti-Inflammatory Drugs Exacerbated Respiratory Disease in Mexican-Mestizo Patients.
PMID:31936183
The interaction of Multiple Sclerosis risk loci with Epstein-Barr virus phenotypes implicates the virus in pathogenesis.
PMID:31932685
The open targets post-GWAS analysis pipeline.
PMID:31930349
The pathogenic AGT c.856+1G>T mutation of a patient with multiple renal cysts and hypertension.
PMID:31930100
A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report.
PMID:31929873
Cell-free DNA donor fraction analysis in pediatric and adult heart transplant patients by multiplexed allele-specific quantitative PCR: Validation of a rapid and highly sensitive clinical test for stratification of rejection probability.
PMID:31929557
Polygenic prediction and GWAS of depression, PTSD, and suicidal ideation/self-harm in a Peruvian cohort.
PMID:31926482
Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.
PMID:31923802
Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.
PMID:31920950
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.
PMID:31919418
Aggression based genome-wide, glutamatergic, dopaminergic and neuroendocrine polygenic risk scores predict callous-unemotional traits.
PMID:31918432
Defining genetic risk factors for scleroderma-associated interstitial lung disease : IRF5 and STAT4 gene variants are associated with scleroderma while STAT4 is protective against scleroderma-associated interstitial lung disease.
PMID:31916109
A brief history of human disease genetics.
PMID:31915397
Heritability estimates for 361 blood metabolites across 40 genome-wide association studies.
PMID:31911595
The genetic etiology of eosinophilic esophagitis.
PMID:31910986
Replication and expansion of epigenome-wide association literature in a black South African population.
PMID:31910897
Structural variant identification and characterization.
PMID:31907725
MOCHI enables discovery of heterogeneous interactome modules in 3D nucleome.
PMID:31907193
Polygenetic Risk Scores for Major Psychiatric Disorders Among Schizophrenia Patients, Their First-Degree Relatives, and Healthy Participants.
PMID:31900488
Evolutionarily conserved pachytene piRNA loci are highly divergent among modern humans.
PMID:31900453
Spitz melanoma is a distinct subset of spitzoid melanoma.
PMID:31900433
A variant near DHCR24 associates with microstructural properties of white matter and peripheral lipid metabolism in adolescents.
PMID:31900429
In vivo functional analysis of non-conserved human lncRNAs associated with cardiometabolic traits.
PMID:31896749
Recapitulation of previously reported associations for type 2 diabetes and metabolic traits in the 126K East Asians.
PMID:31896248
A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans.
PMID:31891604
Estrogen activates Alzheimer's disease genes.
PMID:31890855
Hemoglobin E, malaria and natural selection.
PMID:31890210
Exploring the association of IL-10 polymorphisms in Behcet's disease: a systematic review and meta-analysis.
PMID:31889911
Genome analysis and knowledge-driven variant interpretation with TGex.
PMID:31888639
SMaSH: Sample matching using SNPs in humans.
PMID:31888490
An ancestry informative marker panel design for individual ancestry estimation of Hispanic population using whole exome sequencing data.
PMID:31888480
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes.
PMID:31888296
Few SINEs of life: Alu elements have little evidence for biological relevance despite elevated translation.
PMID:31886458
Genomic variant sharing: a position statement.
PMID:31886409
Association Study between BGLAP Gene HindIII Polymorphism and Type 2 Diabetes Mellitus Development in Ukrainian Population.
PMID:31886290
Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts.
PMID:31883642
Polygenic Susceptibility of Aortic Aneurysms Associates to the Diameter of the Aneurysm Sac: the Aneurysm-Express Biobank Cohort.
PMID:31882626
Single-Nucleotide Polymorphism-Based Genetic Risk Score and Patient Age at Prostate Cancer Diagnosis.
PMID:31880795
Archaic mitochondrial DNA inserts in modern day nuclear genomes.
PMID:31878873
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.
PMID:31878136
Comparison of somatic variant detection algorithms using Ion Torrent targeted deep sequencing data.
PMID:31874647
Variant in ERAP1 promoter region is associated with low expression in a patient with a Behçet-like MHC-I-opathy.
PMID:31873220
Single-cell analysis of structural variations and complex rearrangements with tri-channel processing.
PMID:31873213
RSAT variation-tools: An accessible and flexible framework to predict the impact of regulatory variants on transcription factor binding.
PMID:31871587
Identification of pathogenic variant enriched regions across genes and gene families.
PMID:31871067
Genetic Factors Influencing Warfarin Dose in Black-African Patients: A Systematic Review and Meta-Analysis.
PMID:31869433
Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations.
PMID:31869403
Influence of Genetic Variation in PDE3A on Endothelial Function and Stroke.
PMID:31865795
An innovative panel containing a set of insertion/deletion loci for individual identification and its forensic efficiency evaluations in Chinese Hui ethnic minority.
PMID:31865639
Japanese version of The Cancer Genome Atlas, JCGA, established using fresh frozen tumors obtained from 5143 cancer patients.
PMID:31863614
The MASTiFF panel-a versatile multiple-allele SNP test for forensics.
PMID:31863187
Novel approach reveals genomic landscapes of single-strand DNA breaks with nucleotide resolution in human cells.
PMID:31862872
MethylToSNP: identifying SNPs in Illumina DNA methylation array data.
PMID:31861999
A unified STR profiling system across multiple species with whole genome sequencing data.
PMID:31861983
Investigating skewness to understand gene expression heterogeneity in large patient cohorts.
PMID:31861976
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss.
PMID:31858762
Practical Aspects in Genetic Testing for Cardiomyopathies and Channelopathies.
PMID:31857740
Fast read alignment with incorporation of known genomic variants.
PMID:31856811
Association of Genetic Variation With Keratoconus.
PMID:31855235
A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.
PMID:31853824
Identification and characterization of occult human-specific LINE-1 insertions using long-read sequencing technology.
PMID:31853540
A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).
PMID:31852952
Longitudinal RNA-Seq Analysis of the Repeatability of Gene Expression and Splicing in Human Platelets Identifies a Platelet SELP Splice QTL.
PMID:31852401
ForestQC: Quality control on genetic variants from next-generation sequencing data using random forest.
PMID:31851693
Effects of Single Nucleotide Polymorphisms in Human KCNMA1 on BK Current Properties.
PMID:31849601
Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type.
PMID:31849330
Population History and Gene Divergence in Native Mexicans Inferred from 76 Human Exomes.
PMID:31848607
Overlapping genetic architecture between Parkinson disease and melanoma.
PMID:31845298
A powerful fine-mapping method for transcriptome-wide association studies.
PMID:31844974
Genetic Dissection of Femoral and Tibial Microarchitecture.
PMID:31844829
Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.
PMID:31844068
Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania.
PMID:31844061
Genetic susceptibility to severe childhood asthma and rhinovirus-C maintained by balancing selection in humans for 150 000 years.
PMID:31841129
Identification of a functional 339 bp Alu insertion polymorphism in the schizophrenia-associated locus at 10q24.32.
PMID:31840948
Impact of PSCA Polymorphisms on the Risk of Duodenal Ulcer.
PMID:31839644
Mixed-model admixture mapping identifies smoking-dependent loci of lung function in African Americans.
PMID:31836859
Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms.
PMID:31836783
Genetic variations in olfactory receptor gene OR2AG2 in a large multigenerational family with asthma.
PMID:31836740
Vireo: Bayesian demultiplexing of pooled single-cell RNA-seq data without genotype reference.
PMID:31836005
Sensitive detection of circular DNAs at single-nucleotide resolution using guided realignment of partially aligned reads.
PMID:31830908
Candidate modifier genes for immune function in 22q11.2 deletion syndrome.
PMID:31830774
Are drug targets with genetic support twice as likely to be approved? Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval.
PMID:31830040
CACNA1C polymorphism and brain cortical structure in bipolar disorder.
PMID:31829002
Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism.
PMID:31827253
West Asian sources of the Eurasian component in Ethiopians: a reassessment.
PMID:31827175
Population relationships based on 170 ancestry SNPs from the combined Kidd and Seldin panels.
PMID:31827153
Arteria: An automation system for a sequencing core facility.
PMID:31825479
A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes.
PMID:31825128
A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease.
PMID:31824610
Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome.
PMID:31822864
Co-incidence of RCC-susceptibility polymorphisms with HIF cis-acting sequences supports a pathway tuning model of cancer.
PMID:31822727
GenoSurf: metadata driven semantic search system for integrated genomic datasets.
PMID:31820804
The depression GWAS risk allele predicts smaller cerebellar gray matter volume and reduced SIRT1 mRNA expression in Chinese population.
PMID:31819045
Comprehensive longitudinal study of epigenetic mutations in aging.
PMID:31818313
Human Genomic Diversity Where the Mediterranean Joins the Atlantic.
PMID:31816048
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
PMID:31814998
Deep learning of pharmacogenomics resources: moving towards precision oncology.
PMID:31813953
Genetic Variant Associated With Survival of Patients With Stage II-III Colon Cancer.
PMID:31811950
Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.
PMID:31811167
Population size influences the type of nucleotide variations in humans.
PMID:31805852
BEST: a web server for brain expression Spatio-temporal pattern analysis.
PMID:31805847
Cardioinformatics: the nexus of bioinformatics and precision cardiology.
PMID:31802103
The GenomeAsia 100K Project enables genetic discoveries across Asia.
PMID:31802016
Searching for solutions to the missing heritability problem.
PMID:31799931
Genetic risk for major depressive disorder and loneliness in sex-specific associations with coronary artery disease.
PMID:31796895
Analysis of the Whole-Exome Sequencing of Tumor and Circulating Tumor DNA in Metastatic Melanoma.
PMID:31795494
Ancestry informative DIP loci for dissecting genetic structure and ancestry proportions of Qinghai Tibetan and Tibet Tibetan groups.
PMID:31792748
Genetics of cognitive trajectory in Brazilians: 15 years of follow-up from the Bambuí-Epigen Cohort Study of Aging.
PMID:31792241
Genomewide Gene-by-Sex Interaction Scans Identify ADGRV1 for Sex Differences in Opioid Dependent African Americans.
PMID:31792237
Population history and genetic adaptation of the Fulani nomads: inferences from genome-wide data and the lactase persistence trait.
PMID:31791255
Selective breeding modifies mef2ca mutant incomplete penetrance by tuning the opposing Notch pathway.
PMID:31790396
MTNR1B Gene Polymorphisms Are Associated With the Therapeutic Responses to Repaglinide in Chinese Patients With Type 2 Diabetes Mellitus.
PMID:31787898
Investigating Causality Between Blood Metabolites and Emotional and Behavioral Responses to Traumatic Stress: a Mendelian Randomization Study.
PMID:31786776
Detecting, Categorizing, and Correcting Coverage Anomalies of RNA-Seq Quantification.
PMID:31786209
Association between alcohol consumption and Alzheimer's disease: A Mendelian randomization study.
PMID:31786126
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.
PMID:31785789
A bird's-eye view of Italian genomic variation through whole-genome sequencing.
PMID:31784700
Fine mapping and identification of serum urate loci in American Indians: The Strong Heart Family Study.
PMID:31784582
Mitonuclear interactions influence Alzheimer's disease risk.
PMID:31784277
MPPED2 Polymorphism Is Associated With Altered Systemic Inflammation and Adverse Trauma Outcomes.
PMID:31781170
Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder?
PMID:31781168
Accurate, scalable and integrative haplotype estimation.
PMID:31780650
Common DNA sequence variation influences 3-dimensional conformation of the human genome.
PMID:31779666
RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants.
PMID:31779641
Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing.
PMID:31779139
A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome.
PMID:31777725
Recent population genomic insights into the genetic basis of arsenic tolerance in humans: the difficulties of identifying positively selected loci in strongly bottlenecked populations.
PMID:31776483
GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs.
PMID:31776332
MySeq: privacy-protecting browser-based personal Genome analysis for genomics education and exploration.
PMID:31775760
Genetic Predisposition to Glioma Mediated by a MAPKAP1 Enhancer Variant.
PMID:31773361
Targeted exon sequencing in deceased schizophrenia patients in Denmark.
PMID:31773318
Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.
PMID:31772163
Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores.
PMID:31771638
Current and future advances in genetic testing in systemic autoinflammatory diseases.
PMID:31769854
Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk.
PMID:31767839
Interactions between DRD2/ANKK1 TaqIA Polymorphism and Dietary Factors Influence Plasma Triglyceride Concentrations in Diabetic Patients from Western Mexico: A Cross-sectional Study.
PMID:31766642
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.
PMID:31765389
CRISPRitz: rapid, high-throughput and variant-aware in silico off-target site identification for CRISPR genome editing.
PMID:31764961
Novel genetic loci affecting facial shape variation in humans.
PMID:31763980
MaizeSNPDB: A comprehensive database for efficient retrieve and analysis of SNPs among 1210 maize lines.
PMID:31762961
Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2.
PMID:31761296
Pathways Between a Polygenic Score for Educational Attainment and Higher Educational Attainment in an African American Sample.
PMID:31760550
Impact of polymorphic transposable elements on transcription in lymphoblastoid cell lines from public data.
PMID:31757210
ImaGene: a convolutional neural network to quantify natural selection from genomic data.
PMID:31757205
Coauthor Country Affiliations in International Collaborative Research Funded by the US National Institutes of Health, 2009 to 2017.
PMID:31755947
Personalised analytics for rare disease diagnostics.
PMID:31754101
Evidence that genes involved in hedgehog signaling are associated with both bipolar disorder and high BMI.
PMID:31754094
The Driver of Extreme Human-Specific Olduvai Repeat Expansion Remains Highly Active in the Human Genome.
PMID:31754017
Is selecting better than modifying? An investigation of arguments against germline gene editing as compared to preimplantation genetic diagnosis.
PMID:31752935
Directional X Chromosome Skewing of White Blood Cells from Subjects with Heterozygous Mosaicism for the Variant IRAK1 Haplotype.
PMID:31748848
Genetic predisposition to mosaic Y chromosome loss in blood.
PMID:31748747
Identifying genetic variants underlying medication-induced osteonecrosis of the jaw in cancer and osteoporosis: a case control study.
PMID:31747953
Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease.
PMID:31746734
Genetic evidence for assortative mating on alcohol consumption in the UK Biobank.
PMID:31745073
The orphan nuclear receptor estrogen-related receptor beta (ERRβ) in triple-negative breast cancer.
PMID:31741180
Single haplotype admixture models using large scale HLA genotype frequencies to reproduce human admixture.
PMID:31741008
Comparative genetic architectures of schizophrenia in East Asian and European populations.
PMID:31740837
Neurobiological functions of transcriptional enhancers.
PMID:31740812
Circadian Gene Polymorphisms Associated with Breast Cancer Susceptibility.
PMID:31739444
Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population.
PMID:31737797
Hypertrophic cardiomyopathy: genetics and clinical perspectives.
PMID:31737545
Population Genetic Analysis of Modern and Ancient DNA Variations Yields New Insights Into the Formation, Genetic Structure, and Phylogenetic Relationship of Northern Han Chinese.
PMID:31737039
A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity.
PMID:31731663
Genome-Wide Association Study for Urinary and Fecal Incontinence in Women.
PMID:31729902
Structural variation in the sequencing era.
PMID:31729472
RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions.
PMID:31729446
Genetic variants of calcium and vitamin D metabolism in kidney stone disease.
PMID:31729369
Predicting the Number of Bases to Attain Sufficient Coverage in High-Throughput Sequencing Experiments.
PMID:31725321
Genetic Support for Longevity-Enhancing Drug Targets: Issues, Preliminary Data, and Future Directions.
PMID:31724058
G1359A Polymorphism of the Cannabinoid Receptor 1 Is Not Associated with Overweight and Dyslipidemia in Young Northeastern Mexicans.
PMID:31723535
Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes.
PMID:31720899
Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations.
PMID:31718558
Lipid lowering and Alzheimer disease risk: A mendelian randomization study.
PMID:31714636
A hominid-specific shift in cerebellar expression, upstream retrotransposons, and a potential cis-regulatory mechanism: bioinformatics analyses of the mu-opioid receptor gene.
PMID:31712748
Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency.
PMID:31709144
Genetics of Childhood-onset Schizophrenia 2019 Update.
PMID:31708045
Predicting Benefit From Evolocumab Therapy in Patients With Atherosclerotic Disease Using a Genetic Risk Score: Results From the FOURIER Trial.
PMID:31707849
Improved polygenic prediction by Bayesian multiple regression on summary statistics.
PMID:31704910
Children with vesicoureteric reflux have joint hypermobility and occasional tenascin XB sequence variants.
PMID:31702543
Association between genetically determined leptin and blood lipids considering alcohol consumption: a Mendelian randomisation study.
PMID:31699712
Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning.
PMID:31699087
Unbiased Estimation of Linkage Disequilibrium from Unphased Data.
PMID:31697386
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.
PMID:31696992
Rare compound heterozygous missense SPATA7 variations and risk of schizophrenia; whole-exome sequencing in a consanguineous family with affected siblings, follow-up sequencing and a case-control study.
PMID:31695380
Network-based hierarchical population structure analysis for large genomic data sets.
PMID:31694865
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
PMID:31694722
DESE: estimating driver tissues by selective expression of genes associated with complex diseases or traits.
PMID:31694669
Multi-kernel linear mixed model with adaptive lasso for prediction analysis on high-dimensional multi-omics data.
PMID:31693075
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition.
PMID:31691385
Physical activity offsets genetic risk for incident depression assessed via electronic health records in a biobank cohort study.
PMID:31689000
Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.
PMID:31688885
Williams syndrome hemideletion and LIMK1 variation both affect dorsal stream functional connectivity.
PMID:31687737
Diversity In Precision Medicine And Pharmacogenetics: Methodological And Conceptual Considerations For Broadening Participation.
PMID:31686892
Genetic regulation of gene expression and splicing during a 10-year period of human aging.
PMID:31684996
Inference and analysis of population-specific fine-scale recombination maps across 26 diverse human populations.
PMID:31681842
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
PMID:31681433
Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge.
PMID:31680375
TSEA-DB: a trait-tissue association map for human complex traits and diseases.
PMID:31680168
The impact of proinflammatory cytokines on the β-cell regulatory landscape provides insights into the genetics of type 1 diabetes.
PMID:31676868
The impact of short tandem repeat variation on gene expression.
PMID:31676866
Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.
PMID:31676865
Genome-wide association analysis of 19,629 individuals identifies variants influencing regional brain volumes and refines their genetic co-architecture with cognitive and mental health traits.
PMID:31676860
Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.
PMID:31675503
UMAP reveals cryptic population structure and phenotype heterogeneity in large genomic cohorts.
PMID:31675358
The Personal Genome Project-UK, an open access resource of human multi-omics data.
PMID:31672996
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.
PMID:31672989
Effects of genetic polymorphisms in Vitamin D metabolic pathway on Vitamin D level and asthma control in South Indian patients with bronchial asthma.
PMID:31670295
Role of HLA-B exon 1 in graft-versus-host disease after unrelated haemopoietic cell transplantation: a retrospective cohort study.
PMID:31669248
Clinical and Genetic Predictors of Priapism in Sickle Cell Disease: Results from the Recipient Epidemiology and Donor Evaluation Study III Brazil Cohort Study.
PMID:31668730
Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico.
PMID:31665830
SCGN deficiency results in colitis susceptibility.
PMID:31663849
A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.
PMID:31658987
Variation in Actionable Pharmacogenetic Markers in Natives and Mestizos From Mexico.
PMID:31649539
Conservation of cell-intrinsic immune responses in diverse nonhuman primate species.
PMID:31649152
Transethnic meta-analysis of metabolic syndrome in a multiethnic study.
PMID:31647587
Extensive impact of low-frequency variants on the phenotypic landscape at population-scale.
PMID:31647416
Resistin expression in human monocytes is controlled by two linked promoter SNPs mediating NFKB p50/p50 binding and C-methylation.
PMID:31645609
Human Y Chromosome Exerts Pleiotropic Effects on Susceptibility to Atherosclerosis.
PMID:31644355
Future prospects for dissecting inter-individual variability in the absorption, distribution and elimination of plant bioactives of relevance for cardiometabolic endpoints.
PMID:31642982
Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans.
PMID:31642496
Sequence variants with large effects on cardiac electrophysiology and disease.
PMID:31641117
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
PMID:31640808
NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants.
PMID:31640730
Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes.
PMID:31638168
Impact of age and CYP2D6 genetics on exposure of aripiprazole and dehydroaripiprazole in patients using long-acting injectable versus oral formulation: relevance of poor and intermediate metabolizer status.
PMID:31637453
The -839(A/C) Polymorphism in the ECE1 Isoform b Promoter Associates With Osteoporosis and Fractures.
PMID:31637345
IFNL4 Genotypes Predict Clearance of RNA Viruses in Rwandan Children With Upper Respiratory Tract Infections.
PMID:31637221
Harnessing the microbiota to treat neurological diseases .
PMID:31636490
Interaction Between Type 2 Diabetes Prevention Strategies and Genetic Determinants of Coronary Artery Disease on Cardiometabolic Risk Factors.
PMID:31636172
Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.
PMID:31635417
Editorial: Using Cells in Epidemiological Studies to Characterize Individual Response to Environmental Hazards.
PMID:31632944
A different view on fine-scale population structure in Western African populations.
PMID:31630246
Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms.
PMID:31626773
Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation.
PMID:31619542
A Single Nucleotide C3 Polymorphism Associates With Clinical Outcome After Lung Transplantation.
PMID:31616421
Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3.
PMID:31616254
Precision oncology: lessons learned and challenges for the future.
PMID:31616176
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
PMID:31616000
Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.
PMID:31613678
The novel high-frequency variant of TRPV3 p.A628T in East Asians showing faster sensitization in response to chemical agonists.
PMID:31612282
Acute Aerobic Exercise Leads to Increased Plasma Levels of R- and S-β-Aminoisobutyric Acid in Humans.
PMID:31611815
Contribution of retrotransposition to developmental disorders.
PMID:31604926
Domain-Specific Working Memory, But Not Dopamine-Related Genetic Variability, Shapes Reward-Based Motor Learning.
PMID:31604835
DECA: scalable XHMM exome copy-number variant calling with ADAM and Apache Spark.
PMID:31604420
Genetic regulatory variation in populations informs transcriptome analysis in rare disease.
PMID:31601707
Dog10K: the International Consortium of Canine Genome Sequencing.
PMID:31598382
Decoding human fetal liver haematopoiesis.
PMID:31597962
Bayesian multivariate reanalysis of large genetic studies identifies many new associations.
PMID:31596850
International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci.
PMID:31594949
Along the Indian Ocean Coast: Genomic Variation in Mozambique Provides New Insights into the Bantu Expansion.
PMID:31593238
Inferred divergent gene regulation in archaic hominins reveals potential phenotypic differences.
PMID:31591491
Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry.
PMID:31591465
The MMP-8 rs11225395 Promoter Polymorphism Increases Cancer Risk of Non-Asian Populations: Evidence from a Meta-Analysis.
PMID:31590330
Human milk fatty acid composition is associated with dietary, genetic, sociodemographic, and environmental factors in the CHILD Cohort Study.
PMID:31589250
Pupillary dilation responses as a midlife indicator of risk for Alzheimer's disease: association with Alzheimer's disease polygenic risk.
PMID:31585363
Genetic variability analysis in a population from Bogotá: Towards a haplotype map.
PMID:31584772
The International Genome Sample Resource (IGSR) collection of open human genomic variation resources.
PMID:31584097
Unique and assay specific features of NOMe-, ATAC- and DNase I-seq data.
PMID:31584093
Animal-ImputeDB: a comprehensive database with multiple animal reference panels for genotype imputation.
PMID:31584087
PGG.Han: the Han Chinese genome database and analysis platform.
PMID:31584086
Tandem repeats lead to sequence assembly errors and impose multi-level challenges for genome and protein databases.
PMID:31584084
Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20.
PMID:31583969
Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders.
PMID:31582890
Exploring genetic variation that influences brain methylation in attention-deficit/hyperactivity disorder.
PMID:31582733
T-lex3: an accurate tool to genotype and estimate population frequencies of transposable elements using the latest short-read whole genome sequencing data.
PMID:31580402
VikNGS: a C++ variant integration kit for next generation sequencing association analysis.
PMID:31580400
Transcriptome association studies of neuropsychiatric traits in African Americans implicate PRMT7 in schizophrenia.
PMID:31579629
Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms.
PMID:31578549
Genome-wide association study of INDELs identified four novel susceptibility loci associated with lung cancer risk.
PMID:31577861
Haptoglobin-2 variant increases susceptibility to acute respiratory distress syndrome during sepsis.
PMID:31573976
Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits.
PMID:31570892
One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants.
PMID:31570784
A variant of the castor zinc finger 1 (CASZ1) gene is differentially associated with the clinical classification of chronic venous disease.
PMID:31570750
Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.
PMID:31569399
OGRDB: a reference database of inferred immune receptor genes.
PMID:31566225
Identifying Crohn's disease signal from variome analysis.
PMID:31564248
The nuts and bolts of omics for the clinical allergist.
PMID:31562939
Characterizing rare and low-frequency height-associated variants in the Japanese population.
PMID:31562340
12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population.
PMID:31562322
Distribution of local ancestry and evidence of adaptation in admixed populations.
PMID:31554886
Genomics of rare genetic diseases-experiences from India.
PMID:31554517
A Polygenic Risk Score for Breast Cancer in US Latinas and Latin American Women.
PMID:31553449
Genetic associations of perinatal pain and depression.
PMID:31552780
Placebo effects and the molecular biological components involved.
PMID:31552390
The Challenges of Chromosome Y Analysis and the Implications for Chronic Kidney Disease.
PMID:31552093
Distinct genetic variation and heterogeneity of the Iranian population.
PMID:31550250
Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation.
PMID:31549960
Crystal structure of cis-aconitate decarboxylase reveals the impact of naturally occurring human mutations on itaconate synthesis.
PMID:31548418
RNA ligation precedes the retrotransposition of U6/LINE-1 chimeric RNA.
PMID:31548405
Native American admixture recapitulates population-specific migration and settlement of the continental United States.
PMID:31545791
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.
PMID:31544778
The Danish Twin Registry: An Updated Overview.
PMID:31544734
Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity.
PMID:31543216
The inference of sex-biased human demography from whole-genome data.
PMID:31539367
TASUKE+: a web-based platform for exploring genome-wide association studies results and large-scale resequencing data.
PMID:31539030
Extending Tests of Hardy-Weinberg Equilibrium to Structured Populations.
PMID:31537622
Genomic and epigenomic mapping of leptin-responsive neuronal populations involved in body weight regulation.
PMID:31535083
SLC39A8 is a risk factor for schizophrenia in Uygur Chinese: a case-control study.
PMID:31533672
Evolutionary and functional impact of common polymorphic inversions in the human genome.
PMID:31530810
Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient.
PMID:31527204
Imputation of canine genotype array data using 365 whole-genome sequences improves power of genome-wide association studies.
PMID:31525180
MitoIMP: A Computational Framework for Imputation of Missing Data in Low-Coverage Human Mitochondrial Genome.
PMID:31523131
Combining sequence data from multiple studies: Impact of analysis strategies on rare variant calling and association results.
PMID:31520493
Genotyping of circulating tumor DNA in cholangiocarcinoma reveals diagnostic and prognostic information.
PMID:31519967
Identification of human genetic variants controlling circular RNA expression.
PMID:31519742
Detection of de novo genetic variants in Mayer-Rokitansky-Küster-Hauser syndrome by whole genome sequencing.
PMID:31517310
Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe.
PMID:31517044
The ferroportin Q248H mutation protects from anemia, but not malaria or bacteremia.
PMID:31517041
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
PMID:31515488
A-to-I RNA editing contributes to the persistence of predicted damaging mutations in populations.
PMID:31515285
Pegylated interferon alfa-2a for polycythemia vera or essential thrombocythemia resistant or intolerant to hydroxyurea.
PMID:31515250
Mapping Genome Variants Sheds Light on Genetic and Phenotypic Differentiation in Chinese.
PMID:31513928
A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.
PMID:31513304
regBase: whole genome base-wise aggregation and functional prediction for human non-coding regulatory variants.
PMID:31511901
SNP2APA: a database for evaluating effects of genetic variants on alternative polyadenylation in human cancers.
PMID:31511885
Bayesian Estimation of Population Size Changes by Sampling Tajima's Trees.
PMID:31511299
Fully-sensitive seed finding in sequence graphs using a hybrid index.
PMID:31510650
Building large updatable colored de Bruijn graphs via merging.
PMID:31510647
Integrating read-based and population-based phasing for dense and accurate haplotyping of individual genomes.
PMID:31510646
The Evolving Field of Genetic Epidemiology: From Familial Aggregation to Genomic Sequencing.
PMID:31509181
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
PMID:31508908
The Cancer-Associated Genetic Variant Rs3903072 Modulates Immune Cells in the Tumor Microenvironment.
PMID:31507631
Heteroplasmy concordance between mitochondrial DNA and RNA.
PMID:31506522
SNV identification from single-cell RNA sequencing data.
PMID:31504520
The Impact of Natural Selection on the Evolution and Function of Placentally Expressed Galectins.
PMID:31504490
Assessment of kinship detection using RNA-seq data.
PMID:31501877
Characterizing microsatellite polymorphisms using assembly-based and mapping-based tools.
PMID:31496881
Interpreting Coronary Artery Disease Risk Through Gene-Environment Interactions in Gene Regulation.
PMID:31492806
CYP2C19 and STAT6 Variants Influence the Outcome of Proton Pump Inhibitor Therapy in Pediatric Eosinophilic Esophagitis.
PMID:31490856
A genome-wide association study of cocaine use disorder accounting for phenotypic heterogeneity and gene–environment interaction.
PMID:31490055
The formation of human populations in South and Central Asia.
PMID:31488661
Host susceptibility to severe influenza A virus infection.
PMID:31488196
Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report.
PMID:31488071
A Prospective Analysis of Genetic Variants Associated with Human Lifespan.
PMID:31484785
Genetic hallmarks of recurrent/metastatic adenoid cystic carcinoma.
PMID:31483290
Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia.
PMID:31482689
Genome-wide association study for proliferative diabetic retinopathy in Africans.
PMID:31482010
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
PMID:31481752
Extreme inbreeding in a European ancestry sample from the contemporary UK population.
PMID:31481654
Interferon lambda 4 impacts the genetic diversity of hepatitis C virus.
PMID:31478835
ENAM mutations and digenic inheritance.
PMID:31478359
Inferring whole-genome histories in large population datasets.
PMID:31477934
A method for genome-wide genealogy estimation for thousands of samples.
PMID:31477933
Ultrarare variants drive substantial cis heritability of human gene expression.
PMID:31477931
Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration.
PMID:31477735
The Length of the Expressed 3' UTR Is an Intermediate Molecular Phenotype Linking Genetic Variants to Complex Diseases.
PMID:31475030
Sequencing Technologies and Analyses: Where Have We Been and Where Are We Going?
PMID:31472161
Novel analytical methods to interpret large sequencing data from small sample sizes.
PMID:31470908
Identification of novel epithelial ovarian cancer loci in women of African ancestry.
PMID:31469419
A genome-wide association and replication study of blood pressure in Ugandan early adolescents.
PMID:31469255
An Approach to Identify Individual Functional Single Nucleotide Polymorphisms and Isoform MicroRNAs.
PMID:31467902
Sparse Convolutional Denoising Autoencoders for Genotype Imputation.
PMID:31466333
Whole Mitochondrial DNA Sequencing Analysis in 47 Han Populations in Southwest China.
PMID:31464266
Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage.
PMID:31455884
Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum.
PMID:31455402
Genomic GPS: using genetic distance from individuals to public data for genomic analysis without disclosing personal genomes.
PMID:31455387
Low-frequency variants at the CYP2C9 locus among Puerto Rican patients on warfarin: in silico predictions of functionality and conservation.
PMID:31453773
Development and validation of an allele-specific PCR assay for genotyping a promoter and exonic single nucleotide polymorphisms of MGMT gene.
PMID:31453242
Mutations in exon 8 of TP53 are associated with shorter survival in patients with advanced lung cancer.
PMID:31452792
A germline alteration of ERBB2 increases the risk of breast cancer in Chinese Han women with a familial history of malignant tumors.
PMID:31452768
Estimation of DNA contamination and its sources in genotyped samples.
PMID:31452258
Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.
PMID:31451708
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
PMID:31448840
COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients.
PMID:31447884
Global Text Mining and Development of Pharmacogenomic Knowledge Resource for Precision Medicine.
PMID:31447668
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.
PMID:31447483
Integrative transcriptome imputation reveals tissue-specific and shared biological mechanisms mediating susceptibility to complex traits.
PMID:31444360
Diversity of ATM gene variants: a population-based genome data analysis for precision medicine.
PMID:31443742
DNA Testing Reveals the Putative Identity of JB55, a 19th Century Vampire Buried in Griswold, Connecticut.
PMID:31443502
Differential associations of allergic disease genetic variants with developmental profiles of eczema, wheeze and rhinitis.
PMID:31441980
Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.
PMID:31440271
Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants.
PMID:31439692
Fc Gamma Receptor Polymorphisms Modulated the Vaccine Effect on HIV-1 Risk in the HVTN 505 HIV Vaccine Trial.
PMID:31434737
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
PMID:31433103
Ancient DNA from the skeletons of Roopkund Lake reveals Mediterranean migrants in India.
PMID:31431628
High-efficiency genomic editing in Epstein-Barr virus-transformed lymphoblastoid B cells using a single-stranded donor oligonucleotide strategy.
PMID:31428700
Systematic Review of Genetic Factors in the Etiology of Esophageal Squamous Cell Carcinoma in African Populations.
PMID:31428123
Generalized meta-analysis for multiple regression models across studies with disparate covariate information.
PMID:31427822
Signatures of replication timing, recombination, and sex in the spectrum of rare variants on the human X chromosome and autosomes.
PMID:31427530
Population-based toxicity screening in human induced pluripotent stem cell-derived cardiomyocytes.
PMID:31425687
An estimator of first coalescent time reveals selection on young variants and large heterogeneity in rare allele ages among human populations.
PMID:31425500
Influence of BRCA1 Germline Mutations in the Somatic Mutational Burden of Triple-Negative Breast Cancer.
PMID:31419696
Organophosphate Pesticide Exposure in Pregnancy in Association with Ultrasound and Delivery Measures of Fetal Growth.
PMID:31419153
VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.
PMID:31418091
The Genetic Architecture of Chronic Mountain Sickness in Peru.
PMID:31417607
AlleleAnalyzer: a tool for personalized and allele-specific sgRNA design.
PMID:31416467
Evaluating the quality of the 1000 genomes project data.
PMID:31416423
Investigation of base excision repair gene variants in late-onset Alzheimer's disease.
PMID:31415677
ncRNA-eQTL: a database to systematically evaluate the effects of SNPs on non-coding RNA expression across cancer types.
PMID:31410488
An Accurate and Comprehensive Clinical Sequencing Assay for Cancer Targeted and Immunotherapies.
PMID:31409745
Genetic risk association of CDKN1A and RET gene SNPs with medullary thyroid carcinoma: Results from the largest MTC cohort and meta-analysis.
PMID:31408923
Targeted sequencing reveals expanded genetic diversity of human transfer RNAs.
PMID:31407949
Haplotype-aware graph indexes.
PMID:31406990
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome.
PMID:31406327
Association of Lactase Persistence Genotypes (rs4988235) and Ethnicity with Dairy Intake in a Healthy U.S. Population.
PMID:31405126
Accurate ethnicity prediction from placental DNA methylation data.
PMID:31399127
CAG Repeat Not Polyglutamine Length Determines Timing of Huntington's Disease Onset.
PMID:31398342
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
PMID:31398340
Accurate Tracking of the Mutational Landscape of Diploid Hybrid Genomes.
PMID:31397846
MsPAC: a tool for haplotype-phased structural variant detection.
PMID:31397844
A genome-wide association study identifies genetic loci associated with specific lobar brain volumes.
PMID:31396565
Opportunities, resources, and techniques for implementing genomics in clinical care.
PMID:31395439
Genetically regulated gene expression underlies lipid traits in Hispanic cohorts.
PMID:31393916
RICOPILI: Rapid Imputation for COnsortias PIpeLIne.
PMID:31393554
Targeting pyrimidine synthesis accentuates molecular therapy response in glioblastoma stem cells.
PMID:31391321
Appraising the role of previously reported risk factors in epithelial ovarian cancer risk: A Mendelian randomization analysis.
PMID:31390370
Ancestry informative markers (AIMs) for Korean and other East Asian and South East Asian populations.
PMID:31388795
Population-specific long-range linkage disequilibrium in the human genome and its influence on identifying common disease variants.
PMID:31388069
Race-ethnic differences in the associations of maternal lipid trait genetic risk scores with longitudinal fetal growth.
PMID:31383602
A SLC16A1 Mutation in an Infant With Ketoacidosis and Neuroimaging Assessment: Expanding the Clinical Spectrum of MCT1 Deficiency.
PMID:31380330
Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families.
PMID:31379920
Insights into matrilineal genetic structure, differentiation and ancestry of Armenians based on complete mitogenome data.
PMID:31372716
Sequence tube maps: making graph genomes intuitive to commuters.
PMID:31368484
Bayesian estimation of genetic regulatory effects in high-throughput reporter assays.
PMID:31368479
Missense mutations in the C-terminal portion of the B4GALNT2-encoded glycosyltransferase underlying the Sd(a-) phenotype.
PMID:31367682
LEI: A Novel Allele Frequency-Based Feature Selection Method for Multi-ancestry Admixed Populations.
PMID:31366927
Variation in a Left Ventricle-Specific Hand1 Enhancer Impairs GATA Transcription Factor Binding and Disrupts Conduction System Development and Function.
PMID:31366290
Quality Control Measures and Validation in Gene Association Studies: Lessons for Acute Illness.
PMID:31365490
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.
PMID:31363758
Recent advances and perspectives in next generation sequencing application to the genetic research of type 2 diabetes.
PMID:31363385
Ethnic differences in prevalence of Dupuytren disease can partly be explained by known genetic risk variants.
PMID:31363186
A prospective evaluation of pegylated interferon alfa-2a therapy in patients with polycythemia vera and essential thrombocythemia with a prior splanchnic vein thrombosis.
PMID:31363161
Sequence variation at the MTHFD1L-AKAP12 and FOPNL loci does not influence multiple myeloma survival in Sweden.
PMID:31363079
Identifying loci under positive selection in complex population histories.
PMID:31362936
Spatial chromatin architecture alteration by structural variations in human genomes at the population scale.
PMID:31362752
Accurate estimation of SNP-heritability from biobank-scale data irrespective of genetic architecture.
PMID:31358995
Genome-wide association study of post-traumatic stress disorder reexperiencing symptoms in >165,000 US veterans.
PMID:31358989
Frequencies of clinically important CYP2C19 and CYP2D6 alleles are graded across Europe.
PMID:31358955
An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.
PMID:31358886
High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer.
PMID:31358837
Functional Characterization of Rare Variants in the SHOX2 Gene Identified in Sinus Node Dysfunction and Atrial Fibrillation.
PMID:31354791
Lost in translational biology: Understanding sex differences to inform studies of diseases of the nervous system.
PMID:31351977
The presence and impact of reference bias on population genomic studies of prehistoric human populations.
PMID:31348818
Analysis of polygenic risk score usage and performance in diverse human populations.
PMID:31346163
Systematic analysis of the intersection of disease mutations with protein modifications.
PMID:31345222
Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits.
PMID:31345219
GWAS of habitual coffee consumption reveals a sex difference in the genetic effect of the 12q24 locus in the Japanese population.
PMID:31345160
Role of Personalized Nutrition in Chronic-Degenerative Diseases.
PMID:31344895
Identification of intermediate-sized deletions and inference of their impact on gene expression in a human population.
PMID:31340865
The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent.
PMID:31339938
Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population.
PMID:31338399
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.
PMID:31337358
Repurposing antihypertensive drugs for the prevention of Alzheimer's disease: a Mendelian randomization study.
PMID:31335937
Mitochondrial fusion exploits a therapeutic vulnerability of pancreatic cancer.
PMID:31335325
Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes.
PMID:31334572
The Era of the Genome and Dental Medicine.
PMID:31329043
iFunMed: Integrative functional mediation analysis of GWAS and eQTL studies.
PMID:31328826
Reconstructed Lost Native American Populations from Eastern Brazil Are Shaped by Differential Jê/Tupi Ancestry.
PMID:31328768
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.
PMID:31328417
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
PMID:31327508
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
PMID:31327001
The clinical and radiological profile of primary lateral sclerosis: a population-based study.
PMID:31325016
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
PMID:31324919
Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software.
PMID:31324872
Stochastic search and joint fine-mapping increases accuracy and identifies previously unreported associations in immune-mediated diseases.
PMID:31324808
Genetic mapping of cell type specificity for complex traits.
PMID:31324783
Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.
PMID:31320746
Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.
PMID:31320741
CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation.
PMID:31317604
VariED: the first integrated database of gene annotation and expression profiles for variants related to human diseases.
PMID:31317185
Sequence Dynamics of Pre-mRNA G-Quadruplexes in Plants.
PMID:31316532
A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.
PMID:31315586
A gene regulatory network explains RET-EDNRB epistasis in Hirschsprung disease.
PMID:31313802
Genetic diversity, structure and forensic characteristics of Hmong-Mien-speaking Miao revealed by autosomal insertion/deletion markers.
PMID:31312894
Inconsistency in race and ethnic classification in pharmacogenetics studies and its potential clinical implications.
PMID:31308725
Patient-specific cancer genes contribute to recurrently perturbed pathways and establish therapeutic vulnerabilities in esophageal adenocarcinoma.
PMID:31308377
Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare.
PMID:31308101
Contributions of Rare Gene Variants to Familial and Sporadic FSGS.
PMID:31308072
Stable enhancers are active in development, and fragile enhancers are associated with evolutionary adaptation.
PMID:31307522
A clinically validated whole genome pipeline for structural variant detection and analysis.
PMID:31307387
DNA Sequence Variations Contribute to Variability in Fitness and Trainability.
PMID:31305368
Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches.
PMID:31301758
Polygenic liability for schizophrenia predicts shifting-specific executive function deficits and tobacco use in a moderate drinking community sample.
PMID:31299563
Biological characterization of expression quantitative trait loci (eQTLs) showing tissue-specific opposite directional effects.
PMID:31296926
Identifying, understanding, and correcting technical artifacts on the sex chromosomes in next-generation sequencing data.
PMID:31289836
Essential genetic findings in neurodevelopmental disorders.
PMID:31288856
Genetic Affinities among Southern Africa Hunter-Gatherers and the Impact of Admixing Farmer and Herder Populations.
PMID:31288264
Genome-wide association study of peripheral artery disease in the Million Veteran Program.
PMID:31285632
Genetic relationships of European, Mediterranean, and SW Asian populations using a panel of 55 AISNPs.
PMID:31285530
Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing.
PMID:31285513
Improving Species Identification of Ancient Mammals Based on Next-Generation Sequencing Data.
PMID:31284503
Computational framework for targeted high-coverage sequencing based NIPT.
PMID:31283802
Analysis of the genetic basis of height in large Jewish nuclear families.
PMID:31283753
Consent and Autonomy in the Genomics Era.
PMID:31281738
The role of clonal communication and heterogeneity in breast cancer.
PMID:31277602
Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes.
PMID:31273585
High satellite repeat turnover in great apes studied with short- and long-read technologies.
PMID:31273383
Metabolomic signature of exposure and response to citalopram/escitalopram in depressed outpatients.
PMID:31273200
Genetic risk for coronary heart disease alters the influence of Alzheimer's genetic risk on mild cognitive impairment.
PMID:31272697
A low-frequency IL4R locus variant in Japanese patients with intravenous immunoglobulin therapy-unresponsive Kawasaki disease.
PMID:31269967
Genetic Variation, Comparative Genomics, and the Diagnosis of Disease.
PMID:31269367
scoreInvHap: Inversion genotyping for genome-wide association studies.
PMID:31269027
Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.
PMID:31267011
Recurrent DMD Deletions Highlight Specific Role of Dp71 Isoform in Soft-Tissue Sarcomas.
PMID:31266185
Implementing the FAIR Data Principles in precision oncology: review of supporting initiatives.
PMID:31263868
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
PMID:31263216
Genomic data analysis workflows for tumors from patient-derived xenografts (PDXs): challenges and guidelines.
PMID:31262303
Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles.
PMID:31260137
Genetically-guided algorithm development and sample size optimization for age-related macular degeneration cases and controls in electronic health records from the VA Million Veteran Program.
PMID:31258967
Variations of type IV collagen-encoding genes in patients with histological diagnosis of focal segmental glomerulosclerosis.
PMID:31254113
High-throughput identification of human SNPs affecting regulatory element activity.
PMID:31253979
The cancer cell proteome and transcriptome predicts sensitivity to targeted and cytotoxic drugs.
PMID:31253656
Odyssey: a semi-automated pipeline for phasing, imputation, and analysis of genome-wide genetic data.
PMID:31253090
Characterization of DSM-IV Opioid Dependence Among Individuals of European Ancestry.
PMID:31250797
Bioinformatic Methods and Bridging of Assay Results for Reliable Tumor Mutational Burden Assessment in Non-Small-Cell Lung Cancer.
PMID:31250328
Nuclear DNA from two early Neandertals reveals 80,000 years of genetic continuity in Europe.
PMID:31249872
Whole exome sequencing of patients who resolved Crohn's disease and complex regional pain syndrome following treatment for paratuberculosis.
PMID:31249631
Estimation of allele-specific fitness effects across human protein-coding sequences and implications for disease.
PMID:31249063
The long walk to African genomics.
PMID:31248437
Open Humans: A platform for participant-centered research and personal data exploration.
PMID:31241153
Pharmacogenomics of Nicotine Metabolism: Novel CYP2A6 and CYP2B6 Genetic Variation Patterns in Alaska Native and American Indian Populations.
PMID:31241144
Polygenic risk for alcohol misuse is moderated by romantic partnerships.
PMID:31240774
3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome.
PMID:31240104
On estimating evolutionary probabilities of population variants.
PMID:31238981
Protein Cytokines, Cytokine Gene Polymorphisms, and Potential Acute Coronary Syndrome Symptoms.
PMID:31238711
Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA.
PMID:31237235
Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.
PMID:31235808
Patterns of genetic structure and adaptive positive selection in the Lithuanian population from high-density SNP data.
PMID:31235771
PhenoScanner V2: an expanded tool for searching human genotype-phenotype associations.
PMID:31233103
Immunomics in Pediatric Rheumatic Diseases.
PMID:31231652
Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing.
PMID:31231536
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
PMID:31227780
Genome-wide enhancer annotations differ significantly in genomic distribution, evolution, and function.
PMID:31221079
Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.
PMID:31219150
Heritability analysis of nontraditional glycemic biomarkers in the Atherosclerosis Risk in Communities Study.
PMID:31218750
Genetic analyses of diverse populations improves discovery for complex traits.
PMID:31217584
Investigation of Genetic Susceptibility to Blastomycosis Reveals Interleukin-6 as a Potential Susceptibility Locus.
PMID:31213563
Signatures of Recent Positive Selection in Enhancers Across 41 Human Tissues.
PMID:31213516
A Genome-Wide Association Study Identifies Blood Disorder-Related Variants Influencing Hemoglobin A1c With Implications for Glycemic Status in U.S. Hispanics/Latinos.
PMID:31213470
Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk.
PMID:31211845
miRNA contributions to pediatric-onset multiple sclerosis inferred from GWAS.
PMID:31211169
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
PMID:31209962
Genome sequencing analysis identifies Epstein-Barr virus subtypes associated with high risk of nasopharyngeal carcinoma.
PMID:31209392
Genome-wide association study implicates CHRNA2 in cannabis use disorder.
PMID:31209380
Laying the foundation for genomically-based risk assessment in chronic myeloid leukemia.
PMID:31209280
Analysis of whole Y-chromosome sequences reveals the Japanese population history in the Jomon period.
PMID:31209235
Probabilistic modeling of personalized drug combinations from integrated chemical screen and molecular data in sarcoma.
PMID:31208434
Retrovirus insertion site analysis of LGL leukemia patient genomes.
PMID:31208405
Consistency of Direct-to-Consumer Genetic Testing Results Among Identical Twins.
PMID:31207220
Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.
PMID:31207142
Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences.
PMID:31206625
Engineering Genetic Predisposition in Human Neuroepithelial Stem Cells Recapitulates Medulloblastoma Tumorigenesis.
PMID:31204176
Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver.
PMID:31204013
Genes for Good: Engaging the Public in Genetics Research via Social Media.
PMID:31204010
Evolutionary perspectives on polygenic selection, missing heritability, and GWAS.
PMID:31201529
β6 integrinosis: a new lethal autosomal recessive ITGB6 disorder leading to impaired conformational transitions of the αVβ6 integrin receptor.
PMID:31201286
Exposure to polybrominated biphenyl and stochastic epigenetic mutations: application of a novel epigenetic approach to environmental exposure in the Michigan polybrominated biphenyl registry.
PMID:31200609
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.
PMID:31199787
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations.
PMID:31192177
F8 Inversions at Xq28 Causing Hemophilia A Are Associated With Specific Methylation Changes: Implication for Molecular Epigenetic Diagnosis.
PMID:31191618
In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.
PMID:31190668
Is it acceptable to contact an anonymous egg donor to facilitate diagnostic genetic testing for the donor-conceived child?
PMID:31189727
Population study of thrombophilic markers and pharmacogenetic markers of warfarin prevalence in Bosnia and Herzegovina.
PMID:31187948
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
PMID:31187503
A catalog of single nucleotide changes distinguishing modern humans from archaic hominins.
PMID:31186485
Facial recognition from DNA using face-to-DNA classifiers.
PMID:31186421
Presence of recombination hotspots throughout SLC6A3.
PMID:31185047
Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease.
PMID:31185018
East Anglian early Neolithic monument burial linked to contemporary Megaliths.
PMID:31184205
Models of archaic admixture and recent history from two-locus statistics.
PMID:31181058
Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.
PMID:31180560
Genetic Variants Are Not Rare in ICD Candidates with Dilated Cardiomyopathy: Time for Next-Generation Sequencing?
PMID:31179125
Fast and Accurate Shared Segment Detection and Relatedness Estimation in Un-phased Genetic Data via TRUFFLE.
PMID:31178127
Regional Heterogeneity in Gene Expression, Regulation, and Coherence in the Frontal Cortex and Hippocampus across Development and Schizophrenia.
PMID:31174959
Projected Prevalence of Actionable Pharmacogenetic Variants and Level A Drugs Prescribed Among US Veterans Health Administration Pharmacy Users.
PMID:31173123
Stochastic imputation for integrated transcriptome association analysis of a longitudinally measured trait.
PMID:31172883
hg19KIndel: ethnicity normalized human reference genome.
PMID:31170919
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.
PMID:31170290
MTR-Viewer: identifying regions within genes under purifying selection.
PMID:31170280
Misassembly of long reads undermines de novo-assembled ethnicity-specific genomes: validation in a Chinese Han population.
PMID:31168775
Oral idasanutlin in patients with polycythemia vera.
PMID:31167802
Entropy of mitochondrial DNA circulating in blood is associated with hepatocellular carcinoma.
PMID:31167647