FAIRsharing.qz0rvm; Last edited: Jan. 8, 2019, 1:29 p.m.; Last accessed: Jan 03 2022 7:12 p.m.

Other names: VEP

A text format devised by Ensembl for the eponymous Variant Effect Predictor tool.

Webpage:

http://www.ensembl.org/info/docs/tools/vep/vep_formats.html

Publications:

Publications
More detailed information about this field from each metasource.

The Ensembl Variant Effect Predictor
PMID: 27268795
metasource: Fairsharing.org
version: FAIRsharing.org: VEP; Variant Effect Predictor data format; DOI: https://doi.org/10.25504/FAIRsharing.qz0rvm; Last edited: Jan. 8, 2019, 1:29 p.m.; Last accessed: Jan 03 2022 7:12 p.m.

The Ensembl Variant Effect Predictor PubMed citations: 2021.

2021 articles citing: The Ensembl Variant Effect Predictor

Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study. PMID:35925398
Transcriptome variation in human tissues revealed by long-read sequencing. PMID:35922509
Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family. PMID:35905044
Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity. PMID:35896531
Whole Exome Sequencing Enhanced Imputation Identifies 85 Metabolite Associations in the Alpine CHRIS Cohort. PMID:35888728
Large-Scale Multi-Omics Studies Provide New Insights into Blood Pressure Regulation. PMID:35886906
Functional Genomics Analysis to Disentangle the Role of Genetic Variants in Major Depression. PMID:35886042
Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort. PMID:35886038
Genome-Wide Analysis Identifies Candidate Genes Encoding Feather Color in Ducks. PMID:35886032
Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA. PMID:35885997
Dynamic Features of Chromosomal Instability during Culture of Induced Pluripotent Stem Cells. PMID:35885940
Tracking Clonal Evolution of Multiple Myeloma Using Targeted Next-Generation DNA Sequencing. PMID:35884979
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
Nisin Mutant Prevention Concentration and the Role of Subinhibitory Concentrations on Resistance Development by Diabetic Foot Staphylococci. PMID:35884226
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. PMID:35883178
Somatic DNA Damage Response and Homologous Repair Gene Alterations and Its Association With Tumor Variant Burden in Breast Cancer Patients With Occupational Exposure to Pesticides. PMID:35875117
Unravelling genetic variants of a swedish family with high risk of prostate cancer. PMID:35870994
PROM1, CXCL8, RUNX1, NAV1 and TP73 genes as independent markers predictive of prognosis or response to treatment in two cohorts of high-grade serous ovarian cancer patients. PMID:35867729
Integrative Genomic and Transcriptomic Analysis of Primary Malignant Gliomas Revealed Different Patterns Between Grades and Somatic Mutations Related to Glioblastoma Prognosis. PMID:35865002
Genetic evidence of tri-genealogy hypothesis on the origin of ethnic minorities in Yunnan. PMID:35864541
Pan-cancer analyses of synonymous mutations based on tissue-specific codon optimality. PMID:35860410
The sequences of 150,119 genomes in the UK Biobank. PMID:35859178
Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia. PMID:35854323
Targeting Mre11 overcomes platinum resistance and induces synthetic lethality in XRCC1 deficient epithelial ovarian cancers. PMID:35853939
Immuno-Modulatory Effects of Intervertebral Disc Cells. PMID:35846355
Tumor treating fields affect mesothelioma cell proliferation by exerting histotype-dependent cell cycle checkpoint activations and transcriptional modulations. PMID:35840560
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis. PMID:35835912
Heterogeneous Distribution of Genetic Mutations in Myosin Binding Protein-C Paralogs. PMID:35832193
Meiotic drive in house mice: mechanisms, consequences, and insights for human biology. PMID:35829972
Functional landscapes of POLE and POLD1 mutations in checkpoint blockade-dependent antitumor immunity. PMID:35817971
Analysis of the docking property of host variants of hACE2 for SARS-CoV-2 in a large cohort. PMID:35816517
Decoding RNA Editing Sites Through Transcriptome Analysis in Rice Under Alkaline Stress. PMID:35812946
Dissecting Generalizability and Actionability of Disease-Associated Genes From 20 Worldwide Ethnolinguistic Cultural Groups. PMID:35812734
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism. PMID:35803923
Patient-derived renal cell carcinoma organoids for personalized cancer therapy. PMID:35802820
A Molecularly Characterized Preclinical Platform of Subcutaneous Renal Cell Carcinoma (RCC) Patient-Derived Xenograft Models to Evaluate Novel Treatment Strategies. PMID:35800063
Gut microbiota composition in colorectal cancer patients is genetically regulated. PMID:35794137
Baseline and post-treatment biomarkers of resistance to anti-PD-1 therapy in acral and mucosal melanoma: an observational study. PMID:35793874
Local and systemic immune profiles of human pancreatic ductal adenocarcinoma revealed by single-cell mass cytometry. PMID:35793870
Deciphering associations between three RNA splicing-related genetic variants and lung cancer risk. PMID:35773316
A genome-wide cross-trait analysis identifies shared loci and causal relationships of type 2 diabetes and glycaemic traits with polycystic ovary syndrome. PMID:35771237
Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank. PMID:35761239
Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis. PMID:35760791
Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment. PMID:35759154
Computational cancer neoantigen prediction: current status and recent advances. PMID:35755950
Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data. PMID:35751013
Microbiome-associated human genetic variants impact phenome-wide disease risk. PMID:35749358
Transcription factor retention through multiple polyploidization steps in wheat. PMID:35748743
Genomic Analysis of Waterpipe Smoke-Induced Lung Tumor Autophagy and Plasticity. PMID:35743294
mGWAS-Explorer: Linking SNPs, Genes, Metabolites, and Diseases for Functional Insights. PMID:35736459
Single-nucleus profiling of human dilated and hypertrophic cardiomyopathy. PMID:35732739
QTL-mapping in the obese Berlin Fat Mouse identifies additional candidate genes for obesity and fatty liver disease. PMID:35729251
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19. PMID:35725860
Germline variants of ATG7 in familial cholangiocarcinoma alter autophagy and p62. PMID:35725745
SNPs, short tandem repeats, and structural variants are responsible for differential gene expression across C57BL/6 and C57BL/10 substrains. PMID:35720252
Using genomics to understand the mechanisms of virulence and drug resistance in fungal pathogens. PMID:35713390
Contribution of Helicobacter pylori to the Inflammatory Complications of Common Variable Immunodeficiency. PMID:35711410
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications. PMID:35710456
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. PMID:35708626
Genetic subtypes of smoldering multiple myeloma are associated with distinct pathogenic phenotypes and clinical outcomes. PMID:35705541
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease. PMID:35699195
Genomic architecture and functional effects of potential human inversion supergenes. PMID:35694745
Rare Variants in Inborn Errors of Immunity Genes Associated With Covid-19 Severity. PMID:35694544
Fine Mapping of a Major Backfat QTL Reveals a Causal Regulatory Variant Affecting the CCND2 Gene. PMID:35692822
Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity. PMID:35690068
Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis. PMID:35688625
Allelic expression imbalance of PIK3CA mutations is frequent in breast cancer and prognostically significant. PMID:35676284
Enhanced BRAF engagement by NRAS mutants capable of promoting melanoma initiation. PMID:35672316
Exome Sequencing Data Analysis and a Case-Control Study in Mexican Population Reveals Lipid Trait Associations of New and Known Genetic Variants in Dyslipidemia-Associated Loci. PMID:35669185
The drug-induced phenotypic landscape of colorectal cancer organoids. PMID:35668108
Repeated Winning and Losing Experiences in Chronic Social Conflicts Are Linked to RNA Editing Pattern Difference. PMID:35664469
Pharmacokinetics and Genetic Factors of Atorvastatin in Healthy Korean Subjects. PMID:35664336
A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics. PMID:35663546
Rare and population-specific functional variation across pig lines. PMID:35659233
CI-SpliceAI-Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites. PMID:35657932
A Paradigm Shift in the Combination Changes of SARS-CoV-2 Variants and Increased Spread of Delta Variant (B.1.617.2) across the World. PMID:35656100
MHC class II molecules on pancreatic cancer cells indicate a potential for neo-antigen-based immunotherapy. PMID:35655709
Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes. PMID:35655252
A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation. PMID:35654975
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
OmicsNet 2.0: a web-based platform for multi-omics integration and network visual analytics. PMID:35639733
Comprehensive genomic and tumour immune profiling reveals potential therapeutic targets in malignant pleural mesothelioma. PMID:35637530
In utero origin of myelofibrosis presenting in adult monozygotic twins. PMID:35637336
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
Effects of Multi-Omics Characteristics on Identification of Driver Genes Using Machine Learning Algorithms. PMID:35627101
Genetic variants associated with two major bovine milk fatty acids offer opportunities to breed for altered milk fat composition. PMID:35619070
Genetic changes associated with relapse in favorable histology Wilms tumor: A Children's Oncology Group AREN03B2 study. PMID:35617957
Genomic Evolution and Personalized Therapy of an Infantile Fibrosarcoma Harboring an NTRK Oncogenic Fusion. PMID:35613412
Fine mapping and candidate gene analysis of a dravet syndrome modifier locus on mouse chromosome 11. PMID:35606653
Allelic Variation in Zmfatb Gene Defines Variability for Fatty Acids Composition Among Diverse Maize Genotypes. PMID:35600823
The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations. PMID:35592775
DNA sequence features underlying large-scale duplications and deletions in human. PMID:35590085
Integration of rare expression outlier-associated variants improves polygenic risk prediction. PMID:35588732
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood. PMID:35586607
Breast cancer risks associated with missense variants in breast cancer susceptibility genes. PMID:35585550
Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers. PMID:35585047
PWWP2B promotes DNA end resection and homologous recombination. PMID:35582821
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
Genome-Wide Genomic and Functional Association Study for Workability and Calving Traits in Holstein Cattle. PMID:35565554
The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies. PMID:35562925
Brain Epitranscriptomic Analysis Revealed Altered A-to-I RNA Editing in Septic Patients. PMID:35559016
Exome sequencing of hepatocellular carcinoma in lemurs identifies potential cancer drivers: A pilot study. PMID:35557512
TMC-SNPdb 2.0: an ethnic-specific database of Indian germline variants. PMID:35551364
Unlocking the functional potential of polyploid yeasts. PMID:35545616
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality. PMID:35544052
Identification of biomarkers of response to preoperative talazoparib monotherapy in treatment naïve gBRCA+ breast cancers. PMID:35538088
Identification of heritable rare variants associated with early-stage lung adenocarcinoma risk. PMID:35529798
Lymph node colonization induces tumor-immune tolerance to promote distant metastasis. PMID:35525247
Data Mining, Quality and Management in the Life Sciences. PMID:35507257
Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations. PMID:35504531
Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women. PMID:35502621
Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies. PMID:35501419
Genetic analysis of the PCSK9 locus in psychological, psychiatric, metabolic and cardiovascular traits in UK Biobank. PMID:35501368
Integrative genomic analysis reveals low T-cell infiltration as the primary feature of tobacco use in HPV-positive oropharyngeal cancer. PMID:35494251
Balancing selection at the human salivary agglutinin gene (DMBT1) driven by host-microbe interactions. PMID:35494225
The Polymorphism and Expression of EGFL7 and miR-126 Are Associated With NSCLC Susceptibility. PMID:35494025
Rare coding variants in DNA damage repair genes associated with timing of natural menopause. PMID:35493704
Comparative Analysis and Data Provenance for 1,113 Bacterial Genome Assemblies. PMID:35491842
Comprehensive profiling of 1015 patients' exomes reveals genomic-clinical associations in colorectal cancer. PMID:35487942
Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia. PMID:35486194
Role of testis‑specific serine kinase 1B in undiagnosed male infertility. PMID:35485285
Computational and experimental methods for classifying variants of unknown clinical significance. PMID:35483875
Genetic and environmental determinants of diastolic heart function. PMID:35479509
A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females. PMID:35460069
Robust Mutation Profiling of SARS-CoV-2 Variants from Multiple Raw Illumina Sequencing Data with Cloud Workflow. PMID:35456492
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder. PMID:35456481
Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations. PMID:35456429
New Insights on Gene by Environmental Effects of Drugs of Abuse in Animal Models Using GeneNetwork. PMID:35456420
The Impact of Genetic Polymorphisms in Glutamate-Cysteine Ligase, a Key Enzyme of Glutathione Biosynthesis, on Ischemic Stroke Risk and Brain Infarct Size. PMID:35455093
A locus conferring tolerance to Theileria infection in African cattle. PMID:35446841
Astroblastomas exhibit radial glia stem cell lineages and differential expression of imprinted and X-inactivation escape genes. PMID:35440587
Epigenetic and genomic profiling of chordoid meningioma: implications for clinical management. PMID:35440040
Case Report: Exome and RNA Sequencing Identify a Novel de novo Missense Variant in HNRNPK in a Chinese Patient With Au-Kline Syndrome. PMID:35422839
Genome-Wide Association Study of Campylobacter-Positive Diarrhea Identifies Genes Involved in Toxin Processing and Inflammatory Response. PMID:35420468
Mutation rate of SARS-CoV-2 and emergence of mutators during experimental evolution. PMID:35419205
Comparative Analysis of Differentially Mutated Genes in Non-Muscle and Muscle-Invasive Bladder Cancer in the Chinese Population by Whole Exome Sequencing. PMID:35419031
Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia. PMID:35410376
Lineage Conversion in Pediatric B-Cell Precursor Acute Leukemia under Blinatumomab Therapy. PMID:35409391
Deciphering Haplotypic Variation and Gene Expression Dynamics Associated with Nutritional and Cooking Quality in Rice. PMID:35406707
One Health and Cattle Genetic Resources: Mining More than 500 Cattle Genomes to Identify Variants in Candidate Genes Potentially Affecting Coronavirus Infections. PMID:35405828
Proof-of-Concept Pilot Study on Comprehensive Spatiotemporal Intra-Patient Heterogeneity for Colorectal Cancer With Liver Metastasis. PMID:35402285
The first successful treatment and genetic sequencing of primary hepatic adenosarcoma with sarcomatous overgrowth: a case report. PMID:35400213
Integrated genomic analyses identify high-risk factors and actionable targets in T-cell acute lymphoblastic leukemia. PMID:35399540
The Genomic Landscape of Early-Stage Ovarian High-Grade Serous Carcinoma. PMID:35398881
Meta-analysis of genome-wide association studies identifies ancestry-specific associations underlying circulating total tau levels. PMID:35396452
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. PMID:35395208
Identification of genetic effects underlying type 2 diabetes in South Asian and European populations. PMID:35393509
Phase 1b study of berzosertib and cisplatin in patients with advanced triple-negative breast cancer. PMID:35393425
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research. PMID:35388217
Common and Rare 5'UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics. PMID:35387445
In-Silico and In-Vitro Analysis of Human SOS1 Protein Causing Noonan Syndrome - A Novel Approach to Explore the Molecular Pathways. PMID:35386434
Genome-Wide Association Study of Alzheimer's Disease Brain Imaging Biomarkers and Neuropsychological Phenotypes in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery Dataset. PMID:35386118
Neutralizing antibody response against the B.1.617.2 (delta) and the B.1.1.529 (omicron) variants after a third mRNA SARS-CoV-2 vaccine dose in kidney transplant recipients. PMID:35384272
RNA sequencing role and application in clinical diagnostic. PMID:35382420
Analyzing human knockouts to validate GPR151 as a therapeutic target for reduction of body mass index. PMID:35381001
Harmonizing model organism data in the Alliance of Genome Resources. PMID:35380658
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
Precise in vivo functional analysis of DNA variants with base editing using ACEofBASEs target prediction. PMID:35373735
Multi-Omics Investigations Revealed Underlying Molecular Mechanisms Associated With Tumor Stiffness and Identified Sunitinib as a Potential Therapy for Reducing Stiffness in Pituitary Adenomas. PMID:35372359
Therapeutic and immunomodulatory potential of pazopanib in malignant phyllodes tumor. PMID:35365682
Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program. PMID:35363308
Case Report: Preimplantation Genetic Testing for Meckel Syndrome Induced by Novel Compound Heterozygous Mutations of MKS1. PMID:35360848
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex. PMID:35358092
A complete reference genome improves analysis of human genetic variation. PMID:35357935
Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia. PMID:35351988
Runs of Homozygosity Uncover Potential Functional-Altering Mutation Associated With Body Weight and Length in Two Duroc Pig Lines. PMID:35350434
Genomic diversity and post-admixture adaptation in the Uyghurs. PMID:35350227
Genetic variants of the hypoxia-inducible factor 3 alpha subunit (Hif3a) gene in the Fat and Lean mouse selection lines. PMID:35347545
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification. PMID:35347147
Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology. PMID:35347136
Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci. PMID:35347128
Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics. PMID:35346197
Computational Analysis of the Potential Impact of MTC Complex Missenses SNPs Associated with Male Infertility. PMID:35342767
Hypothalamic Irak4 is a genetically controlled regulator of hypoglycemia-induced glucagon secretion. PMID:35339728
Genetic regulation of post-translational modification of two distinct proteins. PMID:35332118
A Homozygous Deep Intronic Variant Causes Von Willebrand Factor Deficiency and Lack of Endothelial-Specific Secretory Organelles, Weibel-Palade Bodies. PMID:35328514
Identification of Genetic Risk Factors of Severe COVID-19 Using Extensive Phenotypic Data: A Proof-of-Concept Study in a Cohort of Russian Patients. PMID:35328087
Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder. PMID:35327467
Comprehensive Analyses of Bone and Cartilage Transcriptomes Evince Ion Transport, Inflammation and Cartilage Development-Related Genes Involved in Chickens' Femoral Head Separation. PMID:35327184
Significant sparse polygenic risk scores across 813 traits in UK Biobank. PMID:35324888
Reduced reproductive success is associated with selective constraint on human genes. PMID:35322230
Genome-Wide Association Study Identifies Genetic Loci Associated With Fat Cell Number and Overlap With Genetic Risk Loci for Type 2 Diabetes. PMID:35320353
Characterization of the genetic architecture of infant and early childhood body mass index. PMID:35315439
A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant. PMID:35311234
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification. PMID:35311178
Cancer Neoantigens: Challenges and Future Directions for Prediction, Prioritization, and Validation. PMID:35311072
NeoScore Integrates Characteristics of the Neoantigen:MHC Class I Interaction and Expression to Accurately Prioritize Immunogenic Neoantigens. PMID:35304420
RAREsim: A simulation method for very rare genetic variants. PMID:35298919
Positive selection acts on regulatory genetic variants in populations of European ancestry that affect ALDH2 gene expression. PMID:35296751
Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme. PMID:35296311
Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions. PMID:35288444
Genome-wide investigation and functional analysis of RNA editing sites in wheat. PMID:35275970
Deciphering the Retinal Epigenome during Development, Disease and Reprogramming: Advancements, Challenges and Perspectives. PMID:35269428
Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes. PMID:35264221
Assessment of linkage disequilibrium patterns between structural variants and single nucleotide polymorphisms in three commercial chicken populations. PMID:35264116
A 1-bp deletion in bovine QRICH2 causes low sperm count and immotile sperm with multiple morphological abnormalities. PMID:35255804
Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies. PMID:35250806
RASGRF1 Fusions Activate Oncogenic RAS Signaling and Confer Sensitivity to MEK Inhibition. PMID:35247929
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies. PMID:35246562
Allele-specific expression reveals genes with recurrent cis-regulatory alterations in high-risk neuroblastoma. PMID:35246212
Tertiary lymphoid structure and decreased CD8+ T cell infiltration in minimally invasive adenocarcinoma. PMID:35243243
Genome-Wide Association Study-Guided Exome Rare Variant Burden Analysis Identifies IL1R1 and CD3E as Potential Autoimmunity Risk Genes for Celiac Disease. PMID:35237542
Fibrillar Collagen Variants in Spontaneous Coronary Artery Dissection. PMID:35234813
TADA-a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs. PMID:35232478
Computational Resources for the Interpretation of Variations in Cancer. PMID:35230689
Somatic and Germline Variant Calling from Next-Generation Sequencing Data. PMID:35230682
GWAS in people of Middle Eastern descent reveals a locus protective of kidney function-a cross-sectional study. PMID:35227251
Comparison of multiple imputation algorithms and verification using whole-genome sequencing in the CMUH genetic biobank. PMID:35223420
A human breast cancer-derived xenograft and organoid platform for drug discovery and precision oncology. PMID:35221336
The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology. PMID:35221333
PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus. PMID:35217695
Characterizing mobile element insertions in 5675 genomes. PMID:35212372
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model. PMID:35211795
Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing. PMID:35210354
SWAAT Bioinformatics Workflow for Protein Structure-Based Annotation of ADME Gene Variants. PMID:35207751
A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene. PMID:35205353
Genomic Hatchery Introgression in Brown Trout (Salmo trutta L.): Development of a Diagnostic SNP Panel for Monitoring the Impacted Mediterranean Rivers. PMID:35205298
Chemerin Impact on Alternative mRNA Transcription in the Porcine Luteal Cells. PMID:35203364
Genetic associations of protein-coding variants in human disease. PMID:35197637
Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis. PMID:35197475
Genomic characterization of the world's longest selection experiment in mouse reveals the complexity of polygenic traits. PMID:35189878
Cancer/Testis Antigen 55 is required for cancer cell proliferation and mitochondrial DNA maintenance. PMID:35189384
EBF1 nuclear repositioning instructs chromatin refolding to promote therapy resistance in T leukemic cells. PMID:35182476
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery. PMID:35181971
Evaluating the detection ability of a range of epistasis detection methods on simulated data for pure and impure epistatic models. PMID:35180244
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
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank. PMID:35177841
BrewerIX enables allelic expression analysis of imprinted and X-linked genes from bulk and single-cell transcriptomes. PMID:35177756
Dihydroceramide- and ceramide-profiling provides insights into human cardiometabolic disease etiology. PMID:35177612
Spatiotemporal dynamics of clonal selection and diversification in normal endometrial epithelium. PMID:35177608
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation. PMID:35176222
Transcriptome-wide association study of coronary artery disease identifies novel susceptibility genes. PMID:35175464
The S100A7 nuclear interactors in autoimmune diseases: a coevolutionary study in mammals. PMID:35174412
Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia. PMID:35172124
Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS. PMID:35170849
Large-scale association study on daily weight gain in pigs reveals overlap of genetic factors for growth in humans. PMID:35168569
Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect. PMID:35159210
Rare Occurrence of Aristolochic Acid Mutational Signatures in Oro-Gastrointestinal Tract Cancers. PMID:35158844
Contribution of common and rare genetic variants in CEP72 on vincristine-induced peripheral neuropathy in brain tumour patients. PMID:35150001
Genome Nexus: A Comprehensive Resource for the Annotation and Interpretation of Genomic Variants in Cancer. PMID:35148171
An effector index to predict target genes at GWAS loci. PMID:35147782
Hybridization underlies localized trait evolution in cavefish. PMID:35146393
High male specific contribution of the X-chromosome to individual global recombination rate in dairy cattle. PMID:35144552
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research. PMID:35143074
Mapping clustered mutations in cancer reveals APOBEC3 mutagenesis of ecDNA. PMID:35140399
Zebrafish patient-derived xenograft models predict lymph node involvement and treatment outcome in non-small cell lung cancer. PMID:35139880
Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits. PMID:35138379
Genetic load: genomic estimates and applications in non-model animals. PMID:35136196
WormBase in 2022-data, processes, and tools for analyzing Caenorhabditis elegans. PMID:35134929
CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project. PMID:35134542
Prioritization of putatively detrimental variants in euploid miscarriages. PMID:35132093
Genome-wide association meta-analysis identifies 29 new acne susceptibility loci. PMID:35132056
Integrative Genomic Analyses of 1,145 Patient Samples Reveal New Biomarkers in Esophageal Squamous Cell Carcinoma. PMID:35127817
Multiregion sequencing of sarcomatoid renal cell carcinoma arising from autosomal dominant polycystic kidney disease. PMID:35122417
Targeting purine synthesis in ASS1-expressing tumors enhances the response to immune checkpoint inhibitors. PMID:35121952
Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits. PMID:35121771
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene. PMID:35121750
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia. PMID:35119225
Exploration of the genomic landscape of a long-term surviving stage III colorectal cancer patient identifies recurrent and rare mutations: a case report. PMID:35117655
Computational Prediction of the Pathogenic Status of Cancer-Specific Somatic Variants. PMID:35116056
Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles. PMID:35115687
An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report. PMID:35114981
Inhibition of BCL2A1 by STAT5 inactivation overcomes resistance to targeted therapies of FLT3-ITD/D835 mutant AML. PMID:35114569
Fast neutron mutagenesis in soybean enriches for small indels and creates frameshift mutations. PMID:35100358
Role of IGF2 in the Study of Development and Evolution of Prostate Cancer. PMID:35095996
Heritability of social behavioral phenotypes and preliminary associations with autism spectrum disorder risk genes in rhesus macaques: A whole exome sequencing study. PMID:35092647
Variant interpretation: UCSC Genome Browser Recommended Track Sets. PMID:35088925
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases. PMID:35087072
Endosomal cargo recycling mediated by Gpa1 and phosphatidylinositol 3-kinase is inhibited by glucose starvation. PMID:35080991
Variant pathogenic prediction by locus variability: the importance of the current picture of evolution. PMID:35079159
Coding and regulatory variants are associated with serum protein levels and disease. PMID:35079000
A genome-wide association study of serum proteins reveals shared loci with common diseases. PMID:35078996
Parallel functional assessment of m6A sites in human endodermal differentiation with base editor screens. PMID:35078991
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. PMID:35077597
Population-Based Penetrance of Deleterious Clinical Variants. PMID:35076666
Mitochondrial DNA variation across 56,434 individuals in gnomAD. PMID:35074858
Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing. PMID:35074424
Non-additive QTL mapping of lactation traits in 124,000 cattle reveals novel recessive loci. PMID:35073835
The structural coverage of the human proteome before and after AlphaFold. PMID:35073311
Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort. PMID:35070997
Alzheimer's Disease Variant Portal: A Catalog of Genetic Findings for Alzheimer's Disease. PMID:35068457
Tissue-specific multi-omics analysis of atrial fibrillation. PMID:35064145
Genome-Wide Analysis of Disordered Eating Behavior in the Mexican Population. PMID:35057575
Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics. PMID:35055388
Canine Oral Melanoma Genomic and Transcriptomic Study Defines Two Molecular Subgroups with Different Therapeutical Targets. PMID:35053440
Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders. PMID:35052839
Cyanogenesis in the Sorghum Genus: From Genotype to Phenotype. PMID:35052482
Thirteen Independent Genetic Loci Associated with Preserved Processing Speed in a Study of Cognitive Resilience in 330,097 Individuals in the UK Biobank. PMID:35052462
Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel. PMID:35052376
Genetic Dissection of Temperament Personality Traits in Italian Isolates. PMID:35052345
Landscape of driver gene events, biomarkers, and druggable targets identified by whole-genome sequencing of glioblastomas. PMID:35047820
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis. PMID:35045337
Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry. PMID:35039564
Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer. PMID:35039523
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines. PMID:35039090
Historical museum samples enable the examination of divergent and parallel evolution during invasion. PMID:35038768
Scripting Analyses of Genomes in Ensembl Plants. PMID:35037199
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry. PMID:35036865
Aristotle: stratified causal discovery for omics data. PMID:35033007
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants. PMID:35032432
Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants. PMID:35031607
From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene. PMID:35017390
Genomic landscape of TCRαβ and TCRγδ T-large granular lymphocyte leukemia. PMID:35015834
Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings. PMID:35015700
SorghumBase: a web-based portal for sorghum genetic information and community advancement. PMID:35015132
A de novo paradigm for male infertility. PMID:35013161
Comprehensive Molecular Landscape of Cetuximab Resistance in Head and Neck Cancer Cell Lines. PMID:35011716
Combined Use of Whole Exome Sequencing and CRISPR/Cas9 to Study the Etiology of Non-Obstructive Azoospermia: Demonstration of the Dispensable Role of the Testis-Specific Genes C1orf185 and CCT6B. PMID:35011680
Whole-Exome Sequencing of HPV Positive Tonsillar and Base of Tongue Squamous Cell Carcinomas Reveals a Global Mutational Pattern along with Relapse-Specific Somatic Variants. PMID:35008243
Proteomic identification of proliferation and progression markers in human polycythemia vera stem and progenitor cells. PMID:35008095
RAD50 deficiency is a predictor of platinum sensitivity in sporadic epithelial ovarian cancers. PMID:35006434
A network-based integration for understanding racial disparity in prostate cancer. PMID:34998235
SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity. PMID:34996976
Characterization of non-specific lipid transfer protein (nsLtp) gene families in the Brassica napus pangenome reveals abundance variation. PMID:34996379
Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency. PMID:34992263
Hepatocellular carcinoma patients with high circulating cytotoxic T cells and intra-tumoral immune signature benefit from pembrolizumab: results from a single-arm phase 2 trial. PMID:34986867
Evaluation of CRISPR gene-editing tools in zebrafish. PMID:34986794
Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation. PMID:34983512
Genetic analysis of a malignant meningioma and associated metastases. PMID:34981192
Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans. PMID:34964473
The mitochondrial DNA constitution shaping T-cell immunity in patients with rectal cancer at high risk of metastatic progression. PMID:34961902
Machine learning enables new insights into genetic contributions to liver fat accumulation. PMID:34957434
Genomic analyses of the metastasis-derived prostate cancer cell lines LNCaP, VCaP, and PC3-AR. PMID:34951700
Whole Exome Sequencing-Based Identification of a Novel Gene Involved in Root Hair Development in Barley (Hordeum vulgare L.). PMID:34948205
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly. PMID:34946966
Novel In-Frame Deletion in HTRA1 Gene, Responsible for Stroke at a Young Age and Dementia-A Case Study. PMID:34946904
Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting. PMID:34946832
Evidence for the Association between the Intronic Haplotypes of Ionotropic Glutamate Receptors and First-Episode Schizophrenia. PMID:34945722
Pan-Genomic Sequencing Reveals Actionable CDKN2A/2B Deletions and Kataegis in Anaplastic Thyroid Carcinoma. PMID:34944959
New Variants of the Cytochrome P450 2R1 (CYP2R1) Gene in Individuals with Severe Vitamin D-Activating Enzyme 25(OH)D Deficiency. PMID:34944511
A Functional Precision Medicine Pipeline Combines Comparative Transcriptomics and Tumor Organoid Modeling to Identify Bespoke Treatment Strategies for Glioblastoma. PMID:34943910
Genetic Connections and Convergent Evolution of Tropical Indigenous Peoples in Asia. PMID:34940850
Neoadjuvant immunotherapy with nivolumab and ipilimumab induces major pathological responses in patients with head and neck squamous cell carcinoma. PMID:34937871
Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. PMID:34932938
Validation of HER2 Status in Whole Genome Sequencing Data of Breast Cancers with the Ploidy-Corrected Copy Number Approach. PMID:34932189
Comprehensive multiomic characterization of human papillomavirus-driven recurrent respiratory papillomatosis reveals distinct molecular subtypes. PMID:34931021
Genome-wide association and functional interrogation identified a variant at 3p26.1 modulating ovarian cancer survival among Chinese women. PMID:34930913
cbpManager: a web application to streamline the integration of clinical and genomic data in cBioPortal to support the Molecular Tumor Board. PMID:34930224
Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease. PMID:34925849
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy. PMID:34922620
Design and performance of a bovine 200 k SNP chip developed for endangered German Black Pied cattle (DSN). PMID:34922441
Prioritising positively selected variants in whole-genome sequencing data using FineMAV. PMID:34922440
The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan. PMID:34915860
Patient-Derived Upper Tract Urothelial Carcinoma Organoids as a Platform for Drug Screening. PMID:34914855
Oral Squamous Cell Carcinoma in Young Patients Show Higher Rates of EGFR Amplification: Implications for Novel Personalized Therapy. PMID:34912708
Genomic signatures of pre-resistance in Mycobacterium tuberculosis. PMID:34911948
Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder. PMID:34908525
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK). PMID:34906470
Accurate Prediction of Protein Sequences for Proteogenomics Data Integration. PMID:34905178
Clinical presentation, treatment, and genetic and histopathological analysis of juvenile cataracts and secondary glaucoma in a rhesus macaque (Macaca mulatta). PMID:34897697
NLR diversity and candidate fusiform rust resistance genes in loblolly pine. PMID:34897455
The genomic basis of high-elevation adaptation in wild house mice (Mus musculus domesticus) from South America. PMID:34897431
The power of genetic diversity in genome-wide association studies of lipids. PMID:34887591
Tumor Mutation Burden, Expressed Neoantigens and the Immune Microenvironment in Diffuse Gliomas. PMID:34885201
BTK and PI3K Inhibitors Reveal Synergistic Inhibitory Anti-Tumoral Effects in Canine Diffuse Large B-Cell Lymphoma Cells. PMID:34884478
Non-genetic determinants of malignant clonal fitness at single-cell resolution. PMID:34880496
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
Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution. PMID:34875679
Multi-omic machine learning predictor of breast cancer therapy response. PMID:34875674
Steroid-sensitive nephrotic syndrome candidate gene CLVS1 regulates podocyte oxidative stress and endocytosis. PMID:34874915
Whole-exome sequencing, EGFR amplification and infiltration patterns in human glioblastoma. PMID:34873478
Sequencing-based genome-wide association studies reporting standards. PMID:34870259
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene. PMID:34861889
Large-scale integration of the plasma proteome with genetics and disease. PMID:34857953
Mapping the serum proteome to neurological diseases using whole genome sequencing. PMID:34857772
A comprehensive genome-wide scan detects genomic regions related to local adaptation and climate resilience in Mediterranean domestic sheep. PMID:34856922
SCOPe: improvements to the structural classification of proteins - extended database to facilitate variant interpretation and machine learning. PMID:34850923
Genomic evidence for inbreeding depression and purging of deleterious genetic variation in Indian tigers. PMID:34848534
A 3D structural SARS-CoV-2-human interactome to explore genetic and drug perturbations. PMID:34845387
Deep learning enables genetic analysis of the human thoracic aorta. PMID:34837083
PharmVIP: A Web-Based Tool for Pharmacogenomic Variant Analysis and Interpretation. PMID:34834582
Genomic and Transcriptomic Profiling of Brain Metastases. PMID:34830758
Poking COVID-19: Insights on Genomic Constraints among Immune-Related Genes between Qatari and Italian Populations. PMID:34828448
Genomewide Association Analyses of Lactation Persistency and Milk Production Traits in Holstein Cattle Based on Imputed Whole-Genome Sequence Data. PMID:34828436
Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia. PMID:34828413
A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog. PMID:34828377
First DNA Sequencing in Beninese Indigenous Cattle Breeds Captures New Milk Protein Variants. PMID:34828308
Genetic diversity of 'Very Important Pharmacogenes' in two South-Asian populations. PMID:34824904
Non-coding regulatory elements: Potential roles in disease and the case of epilepsy. PMID:34820881
Synergistic insights into human health from aptamer- and antibody-based proteomic profiling. PMID:34819519
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer. PMID:34817745
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial. PMID:34816521
Mutation saturation for fitness effects at human CpG sites. PMID:34806592
Mitotic Errors Promote Genomic Instability and Leukemia in a Novel Mouse Model of Fanconi Anemia. PMID:34804941
Case Report: Reactive Lymphohistiocytic Proliferation in Infant With a Novel Nonsense Variant of IL2RG Who Received BCG Vaccine. PMID:34796149
Associations Between the Purinergic Receptor P2X7 and Leprosy Disease. PMID:34795692
Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss. PMID:34795337
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases. PMID:34795310
Ensembl Genomes 2022: an expanding genome resource for non-vertebrates. PMID:34791415
Ensembl 2022. PMID:34791404
Transmission distortion and genetic incompatibilities between alleles in a multigenerational mouse advanced intercross line. PMID:34791189
Soluble guanylate cyclase signalling mediates etoposide resistance in progressing small cell lung cancer. PMID:34789728
The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome. PMID:34789164
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. PMID:34788397
Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4. PMID:34785669
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
IRF7 and RNH1 are modifying factors of HIV-1 reservoirs: a genome-wide association analysis. PMID:34781942
A Study on the Genetics of Primary Ciliary Dyskinesia. PMID:34768622
PD-1 antibody camrelizumab for Epstein-Barr virus-positive metastatic gastric cancer: a single-arm, open-label, phase 2 trial. PMID:34765307
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants. PMID:34762822
Cancer drivers and clonal dynamics in acute lymphoblastic leukaemia subtypes. PMID:34753926
Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases. PMID:34750571
VPMBench: a test bench for variant prioritization methods. PMID:34749640
Predicting novel candidate human obesity genes and their site of action by systematic functional screening in Drosophila. PMID:34748544
Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake. PMID:34741066
Advances in integrative African genomics. PMID:34740451
Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer. PMID:34738089
MC3R links nutritional state to childhood growth and the timing of puberty. PMID:34732894
Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes. PMID:34732801
Placenta mediates the effect of maternal hypertension polygenic score on offspring birth weight: a study of birth cohort with fetal growth velocity data. PMID:34732167
Allele-specific genomic data elucidate the role of somatic gain and copy-number neutral loss of heterozygosity in cancer. PMID:34731645
Merkel cell polyomavirus-negative Merkel cell carcinoma is associated with JAK-STAT and MEK-ERK pathway activation. PMID:34724284
Analysis of 200,000 Exome-Sequenced UK Biobank Subjects Implicates Genes Involved in Increased and Decreased Risk of Hypertension. PMID:34722352
The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations. PMID:34721006
The European Variation Archive: a FAIR resource of genomic variation for all species. PMID:34718739
Exome-Wide Pan-Cancer Analysis of Germline Variants in 8,719 Individuals Finds Little Evidence of Rare Variant Associations. PMID:34718237
Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing. PMID:34716216
Genetic structure of immunologically associated candidate genes suggests arctic rabies variants exert differential selection in arctic fox populations. PMID:34714859
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci. PMID:34711957
Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation. PMID:34702931
Narrow mutational signatures drive acquisition of multidrug resistance in the fungal pathogen Candida glabrata. PMID:34699784
Mouse Genome Informatics (MGI): latest news from MGD and GXD. PMID:34698891
Genomic Epidemiology of SARS-CoV-2 in Pakistan. PMID:34695600
Prioritizing natural-selection signals from the deep-sequencing genomic data suggests multi-variant adaptation in Tibetan highlanders. PMID:34691999
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region. PMID:34691145
Identification of four novel QTL linked to the metabolic syndrome in the Berlin Fat Mouse. PMID:34689180
The flashfm approach for fine-mapping multiple quantitative traits. PMID:34686674
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. PMID:34677878
The intronic branch point sequence is under strong evolutionary constraint in the bovine and human genome. PMID:34675361
A multiethnic whole genome sequencing study to identify novel loci for bone mineral density. PMID:34673960
Profile of esophageal squamous cell carcinoma mutations in Brazilian patients. PMID:34663841
From GWAS to Gene: Transcriptome-Wide Association Studies and Other Methods to Functionally Understand GWAS Discoveries. PMID:34659337
Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization. PMID:34645894
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
Liquid Biopsy in Gastric Cancer: Analysis of Somatic Cancer Tissue Mutations in Plasma Cell-Free DNA for Predicting Disease State and Patient Survival. PMID:34644276
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins. PMID:34642815
Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes. PMID:34642339
Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3. PMID:34636477
Three chromosome-level duck genome assemblies provide insights into genomic variation during domestication. PMID:34635656
The genetic impact of an Ebola outbreak on a wild gorilla population. PMID:34635054
SomaMutDB: a database of somatic mutations in normal human tissues. PMID:34634815
The Ensembl COVID-19 resource: ongoing integration of public SARS-CoV-2 data. PMID:34634797
Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities. PMID:34626176
HIF-1α Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions. PMID:34621299
A systematic analysis of genetic interactions and their underlying biology in childhood cancer. PMID:34615983
Polygenic basis and biomedical consequences of telomere length variation. PMID:34611362
Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis. PMID:34610950
Long term follow-up of a phase II study of cladribine with concurrent rituximab with hairy cell leukemia variant. PMID:34607348
Case Report: Two Newly Diagnosed Patients With KBG Syndrome-Two Different Molecular Changes. PMID:34604130
Privacy-preserving storage of sequenced genomic data. PMID:34600465
Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy. PMID:34598319
Gene-based mapping of trehalose biosynthetic pathway genes reveals association with source- and sink-related yield traits in a spring wheat panel. PMID:34594548
A cross-population atlas of genetic associations for 220 human phenotypes. PMID:34594039
Rare, Damaging DNA Variants in CORIN and Risk of Coronary Artery Disease: Insights From Functional Genomics and Large-Scale Sequencing Analyses. PMID:34592835
Regional TMPRSS2 V197M Allele Frequencies Are Correlated with COVID-19 Case Fatality Rates. PMID:34588322
Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs. PMID:34584846
Mutant collagen COL11A1 enhances cancerous invasion. PMID:34584216
An enhanced variant effect predictor based on a deep generative model and the Born-Again Networks. PMID:34580383
Integrated genomics point to immune vulnerabilities in pleural mesothelioma. PMID:34580349
High Rate of Mutational Events in SARS-CoV-2 Genomes across Brazilian Geographical Regions, February 2020 to June 2021. PMID:34578387
Common and Unique Genetic Background between Attention-Deficit/Hyperactivity Disorder and Excessive Body Weight. PMID:34573389
Real-World Evaluation of Universal Germline Screening for Cancer Treatment-Relevant Pharmacogenes. PMID:34572750
Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis. PMID:34570090
iPSC culture expansion selects against putatively actionable mutations in the mitochondrial genome. PMID:34560000
SNP prioritization in targeted sequencing data associated with humoral immune responses in chicken. PMID:34551372
Distinct clinical characteristics of DUX4- and PAX5-altered childhood B-lymphoblastic leukemia. PMID:34547766
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. PMID:34547244
Variance-component-based meta-analysis of gene-environment interactions for rare variants. PMID:34544119
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders. PMID:34539568
SmProt: A Reliable Repository with Comprehensive Annotation of Small Proteins Identified from Ribosome Profiling. PMID:34536568
PIGG defines the Emm blood group system. PMID:34535746
A survey of RNA editing at single-cell resolution links interneurons to schizophrenia and autism. PMID:34535545
Genome-wide functional screen of 3'UTR variants uncovers causal variants for human disease and evolution. PMID:34534445
Genetic differentiation of mainland-island sheep of Greece: Implications for identifying candidate genes for long-term local adaptation. PMID:34529728
A modified fluctuation assay reveals a natural mutator phenotype that drives mutation spectrum variation within Saccharomyces cerevisiae. PMID:34523420
Integrated protocol for exitron and exitron-derived neoantigen identification using human RNA-seq data with ScanExitron and ScanNeo. PMID:34522901
The LOVD3 platform: efficient genome-wide sharing of genetic variants. PMID:34521998
Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer. PMID:34521849
Rare variants in the endocytic pathway are associated with Alzheimer's disease, its related phenotypes, and functional consequences. PMID:34516545
Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing. PMID:34514401
Scalable analysis of multi-modal biomedical data. PMID:34508579
Exploring the Genomic Landscape of Cancer Patient Cohorts with GenVisR. PMID:34506690
Differential whole-genome doubling and homologous recombination deficiencies across breast cancer subtypes from the Taiwanese population. PMID:34504292
Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations. PMID:34504065
A genome-wide scan to identify signatures of selection in two Iranian indigenous chicken ecotypes. PMID:34503452
Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin. PMID:34494161
Molecular profiling of advanced solid tumours. The impact of experimental molecular-matched therapies on cancer patient outcomes in early-phase trials: the MAST study. PMID:34493820
Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data. PMID:34491624
iSheep: an Integrated Resource for Sheep Genome, Variant and Phenotype. PMID:34490043
Case Report: A Case of Leukocyte Adhesion Deficiency, Type III Presenting With Impaired Platelet Function, Lymphocytosis and Granulocytosis. PMID:34485203
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency. PMID:34480478
Autophagy promotes growth of tumors with high mutational burden by inhibiting a T-cell immune response. PMID:34476408
Prospects and challenges of cancer systems medicine: from genes to disease networks. PMID:34471925
TSNAD v2.0: A one-stop software solution for tumor-specific neoantigen detection. PMID:34471496
Comprehensive molecular profiling to predict clinical outcomes in pancreatic cancer. PMID:34471425
Full-length isoform transcriptome of the developing human brain provides further insights into autism. PMID:34469739
Building a Chinese pan-genome of 486 individuals. PMID:34462542
Dual PD-L1 and TGF-b blockade in patients with recurrent respiratory papillomatosis. PMID:34462327
Evidence for and localization of proposed causative variants in cattle and pig genomes. PMID:34461824
A Missense Mutation in the MYBPH Gene Is Associated With Abdominal Fat Traits in Meat-Type Chickens. PMID:34456973
SMAD4 is critical in suppression of BRAF-V600E serrated tumorigenesis. PMID:34453124
The PEMDAC phase 2 study of pembrolizumab and entinostat in patients with metastatic uveal melanoma. PMID:34453044
Pan-cancer analysis of longitudinal metastatic tumors reveals genomic alterations and immune landscape dynamics associated with pembrolizumab sensitivity. PMID:34446728
A Genome-Wide Association Study on Liver Stiffness Changes during Hepatitis C Virus Infection Cure. PMID:34441435
Variants Affecting the C-Terminal Tail of UNC93B1 Are Not a Common Risk Factor for Systemic Lupus Erythematosus. PMID:34440442
Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients. PMID:34440441
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3. PMID:34440431
Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability. PMID:34440402
Genome-Wide Association Study Using Whole-Genome Sequence Data for Fertility, Health Indicator, and Endoparasite Infection Traits in German Black Pied Cattle. PMID:34440337
agReg-SNPdb: A Database of Regulatory SNPs for Agricultural Animal Species. PMID:34440019
Shared Genetic Background between Parkinson's Disease and Schizophrenia: A Two-Sample Mendelian Randomization Study. PMID:34439661
MET Mutation Is a Potential Therapeutic Target for Advanced Endometrial Cancer. PMID:34439385
High-throughput screening and genome-wide analyses of 44 anticancer drugs in the 1000 Genomes cell lines reveals an association of the NQO1 gene with the response of multiple anticancer drugs. PMID:34437536
Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer. PMID:34434896
Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort. PMID:34434164
A clinically applicable integrative molecular classification of meningiomas. PMID:34433969
Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families. PMID:34433815
Predicting functional consequences of mutations using molecular interaction network features. PMID:34432150
A global map of associations between types of protein posttranslational modifications and human genetic diseases. PMID:34430807
Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment. PMID:34429404
Multidimensional Approach Assessing the Role of Interleukin 1 Beta in Mesial Temporal Lobe Epilepsy. PMID:34421794
The MURAL collection of prostate cancer patient-derived xenografts enables discovery through preclinical models of uro-oncology. PMID:34413304
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. PMID:34413140
Delaying or delivering: identification of novel NAM-1 alleles that delay senescence to extend wheat grain fill duration. PMID:34405865
The ABCC4 gene is associated with pyometra in golden retriever dogs. PMID:34404837
Genomics pipelines to investigate susceptibility in whole genome and exome sequenced data for variant discovery, annotation, prediction and genotyping. PMID:34395068
Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation. PMID:34393998
A novel compound heterozygous leptin receptor mutation causes more severe obesity than in Leprdb/db mice. PMID:34390703
Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records. PMID:34385667
Overcoming microenvironmental resistance to PD-1 blockade in genetically engineered lung cancer models. PMID:34380768
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive. PMID:34379057
Bisection of the X chromosome disrupts the initiation of chromosome silencing during meiosis in Caenorhabditis elegans. PMID:34376665
Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays. PMID:34373545
A novel machine learning-based approach for the computational functional assessment of pharmacogenomic variants. PMID:34372920
Fifteen Years of the Australian Imaging, Biomarkers and Lifestyle (AIBL) Study: Progress and Observations from 2,359 Older Adults Spanning the Spectrum from Cognitive Normality to Alzheimer's Disease. PMID:34368630
Mutational patterns and clonal evolution from diagnosis to relapse in pediatric acute lymphoblastic leukemia. PMID:34362951
Exploiting genomic synteny in Felidae: cross-species genome alignments and SNV discovery can aid conservation management. PMID:34362297
Single Nucleotide Polymorphism Induces Divergent Dynamic Patterns in CYP3A5: A Microsecond Scale Biomolecular Simulation of Variants Identified in Sub-Saharan African Populations. PMID:34360551
A proteogenomic portrait of lung squamous cell carcinoma. PMID:34358469
The CD155/TIGIT axis promotes and maintains immune evasion in neoantigen-expressing pancreatic cancer. PMID:34358448
Targeting mitotic exit in solid tumors. PMID:34354869
Genetic insights into biological mechanisms governing human ovarian ageing. PMID:34349265
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene. PMID:34347384
Interaction with the CCT chaperonin complex limits APOBEC3A cytidine deaminase cytotoxicity. PMID:34347354
The effects of genotype on inflammatory response in hippocampal progenitor cells: A computational approach. PMID:34345870
SorGSD: updating and expanding the sorghum genome science database with new contents and tools. PMID:34344425
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
BinomiRare: A robust test for association of a rare genetic variant with a binary outcome for mixed models and any case-control proportion. PMID:34337551
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB. PMID:34327855
Careful feature selection is key in classification of Alzheimer's disease patients based on whole-genome sequencing data. PMID:34327330
Detection of genomic regions associated malformations in newborn piglets: a machine-learning approach. PMID:34327051
Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants. PMID:34326492
The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets. PMID:34326338
The role of neutral and adaptive genomic variation in population diversification and speciation in two ground squirrel species of conservation concern. PMID:34324748
Profiling of hepatocellular carcinoma neoantigens reveals immune microenvironment and clonal evolution related patterns. PMID:34321833
Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants. PMID:34316407
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms. PMID:34315874
Multiethnic Prediction of Nicotine Biomarkers and Association With Nicotine Dependence. PMID:34313775
Recent ultra-rare inherited variants implicate new autism candidate risk genes. PMID:34312540
Watch Out for a Second SNP: Focus on Multi-Nucleotide Variants in Coding Regions and Rescued Stop-Gained. PMID:34306009
The clinical importance of tandem exon duplication-derived substitutions. PMID:34302486
G6PD distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19. PMID:34302047
Effect of the Electromagnetic Field (EMF) Radiation on Transcriptomic Profile of Pig Myometrium during the Peri-Implantation Period-An In Vitro Study. PMID:34298942
Genomic Analysis of Response to Neoadjuvant Chemotherapy in Esophageal Adenocarcinoma. PMID:34298611
Comparative Analysis of Mammal Genomes Unveils Key Genomic Variability for Human Life Span. PMID:34297086
Comparison of the oncogenomic landscape of canine and feline hemangiosarcoma shows novel parallels with human angiosarcoma. PMID:34296746
Hearing difficulty is linked to Alzheimer's disease by common genetic vulnerability, not shared genetic architecture. PMID:34294723
Impact of Tenascin-C on Radiotherapy in a Novel Syngeneic Oral Squamous Cell Carcinoma Model With Spontaneous Dissemination to the Lymph Nodes. PMID:34290694
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers. PMID:34285288
Case Report: Pansynostosis, Chiari I Malformation and Syringomyelia in a Child With Frontometaphyseal Dysplasia 1. PMID:34277511
Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma. PMID:34277001
The mutational profile of immune surveillance genes in diagnostic and refractory/relapsed DLBCLs. PMID:34275438
Genomic and pleiotropic analyses of resting QT interval identifies novel loci and overlap with atrial electrical disorders. PMID:34274964
An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databases. PMID:34272616
Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals. PMID:34272381
Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models. PMID:34271981
Deploying new generation sequencing for the study of flesh color depletion in Atlantic Salmon (Salmo salar). PMID:34271869
Effective variant filtering and expected candidate variant yield in studies of rare human disease. PMID:34267211
Genome-Wide Detection of Structural Variations Reveals New Regions Associated with Domestication in Small Ruminants. PMID:34264322
RNA-Seq Data for Reliable SNP Detection and Genotype Calling: Interest for Coding Variant Characterization and Cis-Regulation Analysis by Allele-Specific Expression in Livestock Species. PMID:34262593
Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage Kidney Disease in Type 1 Diabetes. PMID:34261756
Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse. PMID:34255152
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases. PMID:34253785
The role of genetic polymorphisms in endolysosomal ion channels TPC2 and P2RX4 in cancer pathogenesis, prognosis, and diagnosis: a genetic association in the UK Biobank. PMID:34253731
Repeated evolution of circadian clock dysregulation in cavefish populations. PMID:34252077
Synchronous, Yet Genomically Distinct, GIST Offer New Insights Into Precise Targeting of Tumor Driver Mutations. PMID:34250403
South African Buffalo-Derived Theileria parva Is Distinct From Other Buffalo and Cattle-Derived T. parva. PMID:34249088
Genomic analyses of high-grade neuroendocrine gynecological malignancies reveal a unique mutational landscape and therapeutic vulnerabilities. PMID:34245124
Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability. PMID:34244600
Genetic Analysis of Functional Rare Germline Variants across Nine Cancer Types from an Electronic Health Record Linked Biobank. PMID:34244158
Mapping the human genetic architecture of COVID-19. PMID:34237774
Novel Gene Mutations Regulating Immune Responses in Autoimmune Polyglandular Syndrome With an Atypical Course. PMID:34235359
The first insight into the genetic structure of the population of modern Serbia. PMID:34234178
GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health. PMID:34234147
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
Oncogenic cooperation between TCF7-SPI1 and NRAS(G12D) requires β-catenin activity to drive T-cell acute lymphoblastic leukemia. PMID:34230493
Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata. PMID:34229749
Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses. PMID:34226706
Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants. PMID:34220960
Pooled Sequencing Analysis of Geese (Anser cygnoides) Reveals Genomic Variations Associated With Feather Color. PMID:34220935
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
Identification of novel and rare variants associated with handgrip strength using whole genome sequence data from the NHLBI Trans-Omics in Precision Medicine (TOPMed) Program. PMID:34214102
A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy. PMID:34211429
UVB mutagenesis differs in Nras- and Braf-mutant mouse models of melanoma. PMID:34210801
Deleterious Mutations in the TPO Gene Associated with Familial Thyroid Follicular Cell Carcinoma in Dutch German Longhaired Pointers. PMID:34209805
CD74 and CD44 Expression on CTCs in Cancer Patients with Brain Metastasis. PMID:34209696
Identification of Novel Mutations in Colorectal Cancer Patients Using AmpliSeq Comprehensive Cancer Panel. PMID:34207827
Single Nucleotide Polymorphisms in Genes Encoding Toll-Like Receptors 7 and 8 and Their Association with Proviral Load of SRLVs in Goats of Polish Carpathian Breed. PMID:34206971
Identifying Cancer Drivers Using DRIVE: A Feature-Based Machine Learning Model for a Pan-Cancer Assessment of Somatic Missense Mutations. PMID:34205004
Bioinformatics Accelerates the Major Tetrad: A Real Boost for the Pharmaceutical Industry. PMID:34201152
Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum. PMID:34193236
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. PMID:34188062
A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion. PMID:34183069
Whole-Exome Sequencing Analysis of Human Semen Quality in Russian Multiethnic Population. PMID:34178030
Immunogenomic profiling and pathological response results from a clinical trial of docetaxel and carboplatin in triple-negative breast cancer. PMID:34173924
The AML microenvironment catalyzes a stepwise evolution to gilteritinib resistance. PMID:34171263
Whole-genome Sequencing of Follicular Thyroid Carcinomas Reveal Recurrent Mutations in MicroRNA Processing Subunit DGCR8. PMID:34171097
DIVIS: Integrated and Customizable Pipeline for Cancer Genome Sequencing Analysis and Interpretation. PMID:34168993
Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease. PMID:34152079
Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia. PMID:34149817
Establishment and characterization of immortalized human breast cancer cell lines from breast cancer patient-derived xenografts (PDX). PMID:34145270
Genome Scan for Variable Genes Involved in Environmental Adaptations of Nubian Ibex. PMID:34142199
Prioritizing the Role of Major Lipoproteins and Subfractions as Risk Factors for Peripheral Artery Disease. PMID:34139859
Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome. PMID:34125832
High-Throughput Imaging Assay for Drug Screening of 3D Prostate Cancer Organoids. PMID:34111999
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. PMID:34108472
Genome-wide association analysis of adaptation to oxygen stress in Nile tilapia (Oreochromis niloticus). PMID:34107887
Genome wide study of tardive dyskinesia in schizophrenia. PMID:34103471
Systems genetics in diversity outbred mice inform BMD GWAS and identify determinants of bone strength. PMID:34099702
Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs. PMID:34099641
Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences. PMID:34099068
CRISPR/Cas9-mediated correction of MITF homozygous point mutation in a Waardenburg syndrome 2A pig model. PMID:34094716
Transcriptome-Wide Identification of G-to-A RNA Editing in Chronic Social Defeat Stress Mouse Models. PMID:34093668
Genome-wide association study on blood pressure traits in the Iranian population suggests ZBED9 as a new locus for hypertension. PMID:34083597
Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia. PMID:34079577
Eleven genomic loci affect plasma levels of chronic inflammation marker soluble urokinase-type plasminogen activator receptor. PMID:34079037
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. PMID:34075210
High Concordance of Genomic Profiles between Primary and Metastatic Colorectal Cancer. PMID:34074070
Prognostic Genetic Biomarkers Based on Oncogenic Signaling Pathways for Outcome Prediction in Patients with Oral Cavity Squamous Cell Carcinoma. PMID:34070941
Genotype and Trait Specific Responses to Rapamycin Intake in Drosophila melanogaster. PMID:34065203
An in vitro model of tumor heterogeneity resolves genetic, epigenetic, and stochastic sources of cell state variability. PMID:34061819
Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies. PMID:34055682
Association of CASR, CALCR, and ORAI1 Genes Polymorphisms With the Calcium Urolithiasis Development in Russian Population. PMID:34054913
MTR3D: identifying regions within protein tertiary structures under purifying selection. PMID:34050760
Towards population-scale long-read sequencing. PMID:34050336
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
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders. PMID:34046667
Assessing the functional relevance of splice isoforms. PMID:34046593
Natural variants suppress mutations in hundreds of essential genes. PMID:34042294
Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia. PMID:34037856
Association of FAAH p.Pro129Thr and COMT p.Ala72Ser with schizophrenia and comorbid substance use through next-generation sequencing: an exploratory analysis. PMID:34037083
Impact of a 40-Gene Targeted Panel Test on Physician Decision Making for Patients With Acute Myeloid Leukemia. PMID:34036230
Infant inhibited temperament in primates predicts adult behavior, is heritable, and is associated with anxiety-relevant genetic variation. PMID:34035480
Whole-Exome Sequencing of Radiation-Induced Thymic Lymphoma in Mouse Models Identifies Notch1 Activation as a Driver of p53 Wild-Type Lymphoma. PMID:34035082
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses. PMID:34034819
Anti-PD-1 in Combination With Trametinib Suppresses Tumor Growth and Improves Survival of Intrahepatic Cholangiocarcinoma in Mice. PMID:34033968
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs. PMID:34033851
Predicting MHC I restricted T cell epitopes in mice with NAP-CNB, a novel online tool. PMID:34031450
Molecular landscape and subtype-specific therapeutic response of nasopharyngeal carcinoma revealed by integrative pharmacogenomics. PMID:34031426
Rare Missense Functional Variants at COL4A1 and COL4A2 in Sporadic Intracerebral Hemorrhage. PMID:34031201
Standing genetic variation in laboratory populations of insecticide-susceptible Phlebotomus papatasi and Lutzomyia longipalpis (Diptera: Psychodidae: Phlebotominae) for the evolution of resistance. PMID:34025765
Combination of Immunotherapy and Radiotherapy for Recurrent Malignant Gliomas: Results From a Prospective Study. PMID:34025640
Causal effect of alcohol use on the risk of end-stage kidney disease and related comorbidities: a Mendelian randomization study. PMID:34024088
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. PMID:34022131
Genetic Origins and Sex-Biased Admixture of the Huis. PMID:34021754
Characterizing the molecular and immune landscape of canine bladder cancer. PMID:34021685
GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer. PMID:34021172
Chemically defined and xeno-free culture condition for human extended pluripotent stem cells. PMID:34021145
Unique evolutionary trajectories of breast cancers with distinct genomic and spatial heterogeneity. PMID:34011996
Investigating the impact of reference assembly choice on genomic analyses in a cattle breed. PMID:34011274
Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders. PMID:34009545
Bintrafusp Alfa, a Bifunctional Fusion Protein Targeting TGF-β and PD-L1, in Patients with Esophageal Adenocarcinoma: Results from a Phase 1 Cohort. PMID:34009501
Targeted RNA-seq improves efficiency, resolution, and accuracy of allele specific expression for human term placentas. PMID:34009305
Genetic pleiotropy of ERCC6 loss-of-function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries. PMID:34005834
Reproductive history determines Erbb2 locus amplification, WNT signalling and tumour phenotype in a murine breast cancer model. PMID:34003256
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism. PMID:33999436
Accessing Livestock Resources in Ensembl. PMID:33995484
A genetic screen for regulators of muscle morphogenesis in Drosophila. PMID:33993253
Plasma Metabolomic Signatures of Chronic Obstructive Pulmonary Disease and the Impact of Genetic Variants on Phenotype-Driven Modules. PMID:33987620
Whole-exome sequencing identifies somatic mutations associated with lung cancer metastasis to the brain. PMID:33987392
A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy. PMID:33977028
Identification of missense MAB21L1 variants in microphthalmia and aniridia. PMID:33973683
Novel functional sequences uncovered through a bovine multiassembly graph. PMID:33972446
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. PMID:33971972
Knowledge bases and software support for variant interpretation in precision oncology. PMID:33971666
DNMT3A haploinsufficiency causes dichotomous DNA methylation defects at enhancers in mature human immune cells. PMID:33970190
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure. PMID:33963445
Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing. PMID:33960727
Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype. PMID:33960642
Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource. PMID:33960523
CDX2 expression in the hematopoietic lineage promotes leukemogenesis via TGFβ inhibition. PMID:33960108
Limited haplotype diversity underlies polygenic trait architecture across 70 years of wheat breeding. PMID:33957956
Systematic interrogation of mutation groupings reveals divergent downstream expression programs within key cancer genes. PMID:33957863
A natural knockout of the MYO7A gene leads to pre-weaning mortality in pigs. PMID:33955556
Copy number signature analysis tool and its application in prostate cancer reveals distinct mutational processes and clinical outcomes. PMID:33945534
A web-based survey on various symptoms of computer vision syndrome and the genetic understanding based on a multi-trait genome-wide association study. PMID:33941792
Single nucleotide polymorphism array-based signature of low hypodiploidy in acute lymphoblastic leukemia. PMID:33938069
Predicting Ovarian/Breast Cancer Pathogenic Risks of Human BRCA1 Gene Variants of Unknown Significance. PMID:33937409
An Integrated Genomic, Proteomic, and Immunopeptidomic Approach to Discover Treatment-Induced Neoantigens. PMID:33936100
Disparities in COVID-19 severities and casualties across ethnic groups around the globe and patterns of ACE2 and PIR variants. PMID:33933634
Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart Defects. PMID:33925651
Comorbidities and Susceptibility to COVID-19: A Generalized Gene Set Data Mining Approach. PMID:33924631
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases. PMID:33924034
TILLING-by-Sequencing+ to Decipher Oil Biosynthesis Pathway in Soybeans: A New and Effective Platform for High-Throughput Gene Functional Analysis. PMID:33921707
Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing. PMID:33921338
Compound Haplotype Variants in CFH and CD46 Genes Determine Clinical Outcome of Atypical Hemolytic Uremic Syndrome (aHUS)-A Series of Cases from a Single Family. PMID:33920896
Evolutionary Trajectories and Genomic Divergence in Localized Breast Cancers after Ipsilateral Breast Tumor Recurrence. PMID:33920370
Genetic Analysis Reveals Rare Variants in T-Cell Response Gene MR1 Associated with Poor Overall Survival after Urothelial Cancer Diagnosis. PMID:33919687
Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers. PMID:33919281
Genetic Regulation of Biomarkers as Stress Proxies in Dairy Cows. PMID:33917627
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development. PMID:33917078
Variants at the ASIP locus contribute to coat color darkening in Nellore cattle. PMID:33910501
Pathogenic missense protein variants affect different functional pathways and proteomic features than healthy population variants. PMID:33909605
Molecular Parallelism Underlies Convergent Highland Adaptation of Maize Landraces. PMID:33905497
Linkage of Alzheimer disease families with Puerto Rican ancestry identifies a chromosome 9 locus. PMID:33902942
The Clinical Implications of Tumor Mutational Burden in Osteosarcoma. PMID:33898301
Heterogeneity of a dwarf phenotype in Dutch traditional chicken breeds revealed by genomic analyses. PMID:33897823
Investigation of Association of Rare, Functional Genetic Variants With Heavy Drinking and Problem Drinking in Exome Sequenced UK Biobank Participants. PMID:33893496
Genomic profile of advanced breast cancer in circulating tumour DNA. PMID:33893289
Integrated Genomic Analysis Identifies Driver Genes and Cisplatin-Resistant Progenitor Phenotype in Pediatric Liver Cancer. PMID:33893148
A worldwide map of swine short tandem repeats and their associations with evolutionary and environmental adaptations. PMID:33892623
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer. PMID:33889545
Characterization of a haplotype-reference panel for genotyping by low-pass sequencing in Swiss Large White pigs. PMID:33882824
Genetics of HLA Peptide Presentation and Impact on Outcomes in HLA-Matched Allogeneic Hematopoietic Cell Transplantation. PMID:33882342
Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment. PMID:33875422
Systematic identification of A-to-I RNA editing in zebrafish development and adult organs. PMID:33872356
The copy number variation and stroke (CaNVAS) risk and outcome study. PMID:33872305
Inferring Adaptive Codon Preference to Understand Sources of Selection Shaping Codon Usage Bias. PMID:33871580
Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity. PMID:33863983
Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits. PMID:33863921
A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS. PMID:33863784
A pan-cancer transcriptome analysis of exitron splicing identifies novel cancer driver genes and neoepitopes. PMID:33861991
Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction. PMID:33859969
The mode of expression divergence in Drosophila fat body is infection-specific. PMID:33858842
Impact of clinical targeted sequencing on endocrine responsiveness in estrogen receptor-positive, HER2-negative metastatic breast cancer. PMID:33854152
Bioinformatic strategies for the analysis of genomic aberrations detected by targeted NGS panels with clinical application. PMID:33850640
Tissue-specific cell-free DNA degradation quantifies circulating tumor DNA burden. PMID:33850132
Identifying therapeutic drug targets using bidirectional effect genes. PMID:33850126
Phase II Multicenter Study of Enzalutamide in Metastatic Castration-Resistant Prostate Cancer to Identify Mechanisms Driving Resistance. PMID:33849963
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
Bintrafusp Alfa, a Bifunctional Fusion Protein Targeting TGFβ and PD-L1, in Patients with Esophageal Squamous Cell Carcinoma: Results from a Phase 1 Cohort in Asia. PMID:33840050
Reprogramming enriches for somatic cell clones with small-scale mutations in cancer-associated genes. PMID:33831558
The role of a mechanistic host in maintaining arctic rabies variant distributions: Assessment of functional genetic diversity in Alaskan red fox (Vulpes vulpes). PMID:33831031
Genome-wide enhancer maps link risk variants to disease genes. PMID:33828297
Genetic variability in COVID-19-related genes in the Brazilian population. PMID:33824725
Common genetic variants and pathways in diabetes and associated complications and vulnerability of populations with different ethnic origins. PMID:33820928
Genome-Wide Association Identifies Risk Pathways for SAPHO Syndrome. PMID:33816493
Exome-Wide Search for Genes Associated With Central Nervous System Inflammatory Demyelinating Diseases Following CHIKV Infection: The Tip of the Iceberg. PMID:33815474
Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer. PMID:33811746
Detection of loci exhibiting pleiotropic effects on body weight and egg number in female broilers. PMID:33811218
Detection of Rare Germline Variants in the Genomes of Patients with B-Cell Neoplasms. PMID:33809641
Multivariate Analysis Identifies Eight Novel Loci Associated with Meat Productivity Traits in Sheep. PMID:33806625
Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia. PMID:33804237
Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report. PMID:33803538
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. PMID:33798445
Muscle allele-specific expression QTLs may affect meat quality traits in Bos indicus. PMID:33795794
A novel age-informed approach for genetic association analysis in Alzheimer's disease. PMID:33794991
A domestic cat whole exome sequencing resource for trait discovery. PMID:33785770
Model-based assessment of replicability for genome-wide association meta-analysis. PMID:33785739
Autosomal recessive loci contribute significantly to quantitative variation of male fertility in a dairy cattle population. PMID:33784962
Demographic History, Adaptation, and NRAP Convergent Evolution at Amino Acid Residue 100 in the World Northernmost Cattle from Siberia. PMID:33784744
How array design creates SNP ascertainment bias. PMID:33784304
Comprehensive comparative genomic and microsatellite analysis of SARS, MERS, BAT-SARS, and COVID-19 coronaviruses. PMID:33782990
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. PMID:33782605
A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans. PMID:33781384
Loss of TANGO1 Leads to Absence of Bone Mineralization. PMID:33778321
OncoGEMINI: software for investigating tumor variants from multiple biopsies with integrated cancer annotations. PMID:33771218
Potential Impact of DPYD Variation on Fluoropyrimidine Drug Response in sub-Saharan African Populations. PMID:33767731
Inborn errors of immunity-recent advances in research on the pathogenesis. PMID:33766139
In silico candidate variant and gene identification using inbred mouse strains. PMID:33763305
Genome-wide association study of psychiatric and substance use comorbidity in Mexican individuals. PMID:33762635
Identification of deleterious recessive haplotypes and candidate deleterious recessive mutations in Japanese Black cattle. PMID:33758295
Identification of resistance loci against new pathotypes of Plasmodiophora brassicae in Brassica napus based on genome-wide association mapping. PMID:33758222
R-locus for roaned coat is associated with a tandem duplication in an intronic region of USH2A in dogs and also contributes to Dalmatian spotting. PMID:33755696
A first-generation pediatric cancer dependency map. PMID:33753930
Triple-negative breast lobular carcinoma: a luminal androgen receptor carcinoma with specific ESRRA mutations. PMID:33753865
Variants in ACE2 and TMPRSS2 Genes Are Not Major Determinants of COVID-19 Severity in UK Biobank Subjects. PMID:33752217
Sequencing at lymphoid neoplasm susceptibility loci maps six myeloma risk genes. PMID:33751038
A drought-responsive rice amidohydrolase is the elusive plant guanine deaminase with the potential to modulate the epigenome. PMID:33749847
Remus: A Web Application for Prioritization of Regulatory Regions and Variants in Monogenic Diseases. PMID:33747049
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation. PMID:33743207
Genome-wide association study suggests that variation at the RCOR1 locus is associated with tinnitus in UK Biobank. PMID:33742053
Mutational profiles of marker genes of cervical carcinoma in Bangladeshi patients. PMID:33736612
Global proteomic analysis of extracellular matrix in mouse and human brain highlights relevance to cerebrovascular disease. PMID:33730931
High mutation burden in the checkpoint and micro-RNA processing genes in myelodysplastic syndrome. PMID:33730109
Gene variants of coagulation related proteins that interact with SARS-CoV-2. PMID:33730015
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates. PMID:33727708
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. PMID:33726816
Infertility due to defective sperm flagella caused by an intronic deletion in DNAH17 that perturbs splicing. PMID:33724408
Atypical Genetic Basis of Pyrazinamide Resistance in Monoresistant Mycobacterium tuberculosis. PMID:33722890
The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm. PMID:33713133
NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants. PMID:33712516
Imputation accuracy to whole-genome sequence in Nellore cattle. PMID:33711929
Short loop functional commonality identified in leukaemia proteome highlights crucial protein sub-networks. PMID:33709075
The Global Landscape of SARS-CoV-2 Genomes, Variants, and Haplotypes in 2019nCoVR. PMID:33704069
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color. PMID:33692100
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome. PMID:33689014
New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples. PMID:33679884
Identifying Primate ACE2 Variants That Confer Resistance to SARS-CoV-2. PMID:33674876
Molecular disruption of DNA polymerase β for platinum sensitisation and synthetic lethality in epithelial ovarian cancers. PMID:33674744
Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa. PMID:33671757
Sarcoptic mange severity is associated with reduced genomic variation and evidence of selection in Yellowstone National Park wolves (Canis lupus). PMID:33664786
Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center. PMID:33663443
Delineation of Mitochondrial DNA Variants From Exome Sequencing Data and Association of Haplogroups With Obesity in Kuwait. PMID:33659027
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. PMID:33649541
Host Genome-Wide Association Study of Infant Susceptibility to Shigella-Associated Diarrhea. PMID:33649051
Molecular characterization of DICER1-mutated pituitary blastoma. PMID:33644822
A-to-I RNA Editing in Cancer: From Evaluating the Editing Level to Exploring the Editing Effects. PMID:33643923
A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant. PMID:33633220
Relevance of PD-L1 Non-Coding Polymorphisms on the Prognosis of a Genetically Admixed NSCLC Cohort. PMID:33623414
Uniform genomic data analysis in the NCI Genomic Data Commons. PMID:33619257
CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores. PMID:33618777
Comparison of Open-access Databases for Clinical Variant Interpretation in Cancer: A Case Study of MDS/AML. PMID:33608312
Genetic Effects on Transcriptome Profiles in Colon Epithelium Provide Functional Insights for Genetic Risk Loci. PMID:33601062
From chemoproteomic-detected amino acids to genomic coordinates: insights into precise multi-omic data integration. PMID:33599394
Million-year-old DNA sheds light on the genomic history of mammoths. PMID:33597750
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing. PMID:33597727
Investigation of allele specific expression in various tissues of broiler chickens using the detection tool VADT. PMID:33597613
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. PMID:33597508
CIITA-Transduced Glioblastoma Cells Uncover a Rich Repertoire of Clinically Relevant Tumor-Associated HLA-II Antigens. PMID:33592498
Chromosome 8 gain is associated with high-grade transformation in MPNST. PMID:33591953
Twelve years of SAMtools and BCFtools. PMID:33590861
Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes. PMID:33589840
Recent Consanguinity and Outbred Autozygosity Are Associated With Increased Risk of Late-Onset Alzheimer's Disease. PMID:33584820
Compositional Variability and Mutation Spectra of Monophyletic SARS-CoV-2 Clades. PMID:33581339
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus. PMID:33575671
A fully integrated machine learning scan of selection in the chimpanzee genome. PMID:33575612
Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs. PMID:33572573
A versatile workflow to integrate RNA-seq genomic and transcriptomic data into mechanistic models of signaling pathways. PMID:33571195
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. PMID:33568819
Molecular medicine tumor board: whole-genome sequencing to inform on personalized medicine for a man with advanced prostate cancer. PMID:33568750
Describing variability in pig genes involved in coronavirus infections for a One Health perspective in conservation of animal genetic resources. PMID:33564056
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder. PMID:33563892
Genomic, Clinical, and Behavioral Characterization of 15q11.2 BP1-BP2 Deletion (Burnside-Butler) Syndrome in Five Families. PMID:33562221
Gv1, a Zinc Finger Gene Controlling Endogenous MLV Expression. PMID:33560369
Replication of HLA class II locus association with susceptibility to podoconiosis in three Ethiopian ethnic groups. PMID:33558538
Genome-wide fine-mapping identifies pleiotropic and functional variants that predict many traits across global cattle populations. PMID:33558518
Integrative Genomic-Epigenomic Analysis of Clozapine-Treated Patients with Refractory Psychosis. PMID:33557049
The uracil-DNA glycosylase UNG protects the fitness of normal and cancer B cells expressing AID. PMID:33554121
Practical prediction model of the clinical response to programmed death-ligand 1 inhibitors in advanced gastric cancer. PMID:33547412
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma. PMID:33547292
The Genetics of Sudden Infant Death Syndrome-Towards a Gene Reference Resource. PMID:33540853
Unravelling the Sequential Interplay of Mutational Mechanisms during Clonal Evolution in Relapsed Pediatric Acute Lymphoblastic Leukemia. PMID:33540666
A fast and efficient colocalization algorithm for identifying shared genetic risk factors across multiple traits. PMID:33536417
Loss of Cnot6l Impairs Inosine RNA Modifications in Mouse Oocytes. PMID:33530472
The mutational load in natural populations is significantly affected by high primary rates of retroposition. PMID:33526666
Hierarchical Modelling of Haplotype Effects on a Phylogeny. PMID:33519886
A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer. PMID:33517887
Genes and SNPs Involved with Scrotal and Umbilical Hernia in Pigs. PMID:33513662
Gene-based association analysis identifies 190 genes affecting neuroticism. PMID:33510330
Antitumor T-cell Immunity Contributes to Pancreatic Cancer Immune Resistance. PMID:33509790
Evaluation of genetic structure in European wheat cultivars and advanced breeding lines using high-density genotyping-by-sequencing approach. PMID:33509072
The contribution of X-linked coding variation to severe developmental disorders. PMID:33504798
Whole-Genome Sequence Data Suggest Environmental Adaptation of Ethiopian Sheep Populations. PMID:33501931
Sharing genetic variants with the NGS pipeline is essential for effective genomic data sharing and reproducibility in health information exchange. PMID:33500538
In Silico Inference of Synthetic Cytotoxic Interactions from Paclitaxel Responses. PMID:33499282
Elevated levels of tissue factor pathway inhibitor in patients with mild to moderate bleeding tendency. PMID:33496735
Detection of aberrant splicing events in RNA-seq data using FRASER. PMID:33483494
A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth. PMID:33482199
A platform for curated products from novel open reading frames prompts reinterpretation of disease variants. PMID:33468550
Detection of aberrant gene expression events in RNA sequencing data. PMID:33462443
GATA3 somatic mutations are associated with clinicopathological features and expression profile in TCGA breast cancer patients. PMID:33462316
Expression quantitative trait loci in sheep liver and muscle contribute to variations in meat traits. PMID:33461502
Risk prediction and marker selection in nonsynonymous single nucleotide polymorphisms using whole genome sequencing data. PMID:33456716
SARS-CoV-2 infection susceptibility influenced by ACE2 genetic polymorphisms: insights from Tehran Cardio-Metabolic Genetic Study. PMID:33452303
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration. PMID:33452270
Extension of SKAT to multi-category phenotypes through a geometrical interpretation. PMID:33446828
Whole genome sequencing of 10K patients with acute ischaemic stroke or transient ischaemic attack: design, methods and baseline patient characteristics. PMID:33443231
Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection. PMID:33441574
Quantitative analysis of the splice variants expressed by the major hepatitis B virus genotypes. PMID:33439114
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study. PMID:33436325
Clinicopathological and Functional Evaluation Reveal NBS1 as a Predictor of Platinum Resistance in Epithelial Ovarian Cancers. PMID:33435622
Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint. PMID:33434514
Large mosaic copy number variations confer autism risk. PMID:33432194
Ultraviolet radiation drives mutations in a subset of mucosal melanomas. PMID:33431815
Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics. PMID:33420026
Genomic Landscapes of Acral Melanomas in East Asia. PMID:33419898
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia. PMID:33418990
Combination of tissue and liquid biopsy molecular profiling to detect transformation to small cell lung carcinoma during osimertinib treatment. PMID:33414847
Transcriptome of nasopharyngeal samples from COVID-19 patients and a comparative analysis with other SARS-CoV-2 infection models reveal disparate host responses against SARS-CoV-2. PMID:33413422
A nonsense mutation of bone morphogenetic protein-15 (BMP15) causes both infertility and increased litter size in pigs. PMID:33413103
A pan-cancer atlas of somatic mutations in miRNA biogenesis genes. PMID:33406242
Comparative genomic analysis of primary tumors and paired brain metastases in lung cancer patients by whole exome sequencing: a pilot study. PMID:33400739
Accurate, scalable cohort variant calls using DeepVariant and GLnexus. PMID:33399819
Aberrant splicing isoforms detected by full-length transcriptome sequencing as transcripts of potential neoantigens in non-small cell lung cancer. PMID:33397462
Computational Analysis of SARS-CoV-2 and SARS-Like Coronavirus Diversity in Human, Bat and Pangolin Populations. PMID:33396801
Sequential fate-switches in stem-like cells drive the tumorigenic trajectory from human neural stem cells to malignant glioma. PMID:33390587
Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome. PMID:33383211
Whole-genome resequencing using genomic DNA extracted from horsehair roots for gene-doping control in horse sports. PMID:33376443
Aberrant Splicing in GJB1 and the Relevance of 5' UTR in CMTX1 Pathogenesis. PMID:33375465
fshr: a fish sex-determining locus shows variable incomplete penetrance across flathead grey mullet populations. PMID:33354664
Mendelian Randomization Study on Amino Acid Metabolism Suggests Tyrosine as Causal Trait for Type 2 Diabetes. PMID:33352682
Genome-wide Association Studies Reveal Novel Locus With Sex-/Therapy-Specific Fracture Risk Effects in Childhood Cancer Survivors. PMID:33338273
Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza. PMID:33335158
Single cell analysis reveals distinct immune landscapes in transplant and primary sarcomas that determine response or resistance to immunotherapy. PMID:33335088
Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility. PMID:33335035
Genetic architecture of host proteins involved in SARS-CoV-2 infection. PMID:33328453
Cross-Site Concordance Evaluation of Tumor DNA and RNA Sequencing Platforms for the CIMAC-CIDC Network. PMID:33323402
Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data. PMID:33313134
Deep learning-based cross-classifications reveal conserved spatial behaviors within tumor histological images. PMID:33311458
ATP13A3 is a major component of the enigmatic mammalian polyamine transport system. PMID:33310703
The impact of post-alignment processing procedures on whole-exome sequencing data. PMID:33306778
Whole-genome sequencing analysis of the cardiometabolic proteome. PMID:33303764
A flexible computational pipeline for research analyses of unsolved clinical exome cases. PMID:33303739
Initial whole-genome sequencing and analysis of the host genetic contribution to COVID-19 severity and susceptibility. PMID:33298875
Dysbiotic Lesional Microbiome With Filaggrin Missense Variants Associate With Atopic Dermatitis in India. PMID:33282748
The Needle in the Haystack-Searching for Genetic and Epigenetic Differences in Monozygotic Twins Discordant for Tetralogy of Fallot. PMID:33276527
Flype: Software for enabling personalized medicine. PMID:33270363
SITC cancer immunotherapy resource document: a compass in the land of biomarker discovery. PMID:33268350
Genome-Wide Analysis of Nubian Ibex Reveals Candidate Positively Selected Genes That Contribute to Its Adaptation to the Desert Environment. PMID:33266380
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias. PMID:33263113
Comprehensive analysis of cutaneous and uveal melanoma liver metastases. PMID:33262254
dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. PMID:33261662
Finding a suitable library size to call variants in RNA-Seq. PMID:33261552
Genomic and transcriptomic alterations associated with drug vulnerabilities and prognosis in adenocarcinoma at the gastroesophageal junction. PMID:33257699
Targeted Sequencing of Pancreatic Adenocarcinomas from Patients with Metachronous Pulmonary Metastases. PMID:33255265
Predicting changes in protein thermodynamic stability upon point mutation with deep 3D convolutional neural networks. PMID:33253214
The Population-Specific Impact of Neandertal Introgression on Human Disease. PMID:33247712
ProTECT-Prediction of T-Cell Epitopes for Cancer Therapy. PMID:33244314
Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort. PMID:33244021
The genetic landscape of crystallins in congenital cataract. PMID:33243271
Clinicopathological and Molecular Profiles of Sporadic Microsatellite Unstable Colorectal Cancer with or without the CpG Island Methylator Phenotype (CIMP). PMID:33238621
Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population. PMID:33237934
Pharmacogenetics at Scale: An Analysis of the UK Biobank. PMID:33237584
COVID-19 research risks ignoring important host genes due to pre-established research patterns. PMID:33231169
Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants. PMID:33230308
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals. PMID:33230300
Genome-wide association study identifies 16 genomic regions associated with circulating cytokines at birth. PMID:33227023
The mutation profile of differentiated thyroid cancer coexisting with undifferentiated anaplastic cancer resembles that of anaplastic thyroid cancer but not that of archetypal differentiated thyroid cancer. PMID:33222100
Transient expansion of TP53 mutated clones in polycythemia vera patients treated with idasanutlin. PMID:33216890
A genome-wide scan study identifies a single nucleotide substitution in MC1R gene associated with white coat colour in fallow deer (Dama dama). PMID:33213385
Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy. PMID:33212010
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. PMID:33211200
Ex vivo culture of circulating tumour cells derived from non-small cell lung cancer. PMID:33209602
Data integration for prediction of weight loss in randomized controlled dietary trials. PMID:33208769
DNA sequencing of anatomy lab cadavers to provide hands-on precision medicine introduction to medical students. PMID:33198737
Mitochondrial DNA Mutation Analysis in Breast Cancer: Shifting From Germline Heteroplasmy Toward Homoplasmy in Tumors. PMID:33194675
The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings. PMID:33193738
Integrative Network Analysis of Predicted miRNA-Targets Regulating Expression of Immune Response Genes in Bovine Coronavirus Infection. PMID:33193717
Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome. PMID:33193692
Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance. PMID:33193618
Integrating Genetic and Genomic Analyses of Combined Health Data Across Ecotypes to Improve Disease Resistance in Indigenous African Chickens. PMID:33193617
GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline. PMID:33193602
Candidate Gene Analysis Reveals Strong Association of CETP Variants With High Density Lipoprotein Cholesterol and PCSK9 Variants With Low Density Lipoprotein Cholesterol in Ghanaian Adults: An AWI-Gen Sub-Study. PMID:33193594
Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report. PMID:33187473
Exploring the Role of Contactins across Psychological, Psychiatric and Cardiometabolic Traits within UK Biobank. PMID:33182605
A yeast living ancestor reveals the origin of genomic introgressions. PMID:33177709
Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy. PMID:33175337
Genomic profile of MYCN non-amplified neuroblastoma and potential for immunotherapeutic strategies in neuroblastoma. PMID:33172452
Gramene 2021: harnessing the power of comparative genomics and pathways for plant research. PMID:33170273
Genome Variation Map: a worldwide collection of genome variations across multiple species. PMID:33170268
The Zebrafish Information Network: major gene page and home page updates. PMID:33170210
Molecular variation among virulent and avirulent strains of the quarantine nematode Bursaphelenchus xylophilus. PMID:33169231
MobiDetails: online DNA variants interpretation. PMID:33161418
An evaluation of inbreeding measures using a whole-genome sequenced cattle pedigree. PMID:33159183
Neoantigen prediction in human breast cancer using RNA sequencing data. PMID:33155341
Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data. PMID:33154511
Mapping the genetic basis of diabetes mellitus in the Australian Burmese cat (Felis catus). PMID:33154479
Genomic Architecture of Rapid Parallel Adaptation to Fresh Water in a Wild Fish. PMID:33146383
Phenotype prediction and characterization of 25 pharmacogenes in Thais from whole genome sequencing for clinical implementation. PMID:33144648
Role of specialized composition of SWI/SNF complexes in prostate cancer lineage plasticity. PMID:33144576
Recurrent SPECC1L-NTRK fusions in pediatric sarcoma and brain tumors. PMID:33144287
Therapeutic Efficacy of GC1118, a Novel Anti-EGFR Antibody, against Glioblastoma with High EGFR Amplification in Patient-Derived Xenografts. PMID:33142709
Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients. PMID:33138793
Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline. PMID:33137338
Ensembl 2021. PMID:33137190
Transfer learning enables prediction of CYP2D6 haplotype function. PMID:33137098
Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR. PMID:33134778
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. PMID:33131181
Neoantimon: a multifunctional R package for identification of tumor-specific neoantigens. PMID:33123738
Genetic parameters and associated genomic regions for global immunocompetence and other health-related traits in pigs. PMID:33116177
Integrated genomic and transcriptomic analysis revealed mutation patterns of de-differentiated liposarcoma and leiomyosarcoma. PMID:33115433
Epigenetic Mechanisms Contribute to Evolutionary Adaptation of Gene Network Activity under Environmental Selection. PMID:33113358
Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients. PMID:33113089
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort. PMID:33110626
Circulating tumour DNA from the cerebrospinal fluid allows the characterisation and monitoring of medulloblastoma. PMID:33110059
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player. PMID:33108537
Phase 2 study of ruxolitinib and decitabine in patients with myeloproliferative neoplasm in accelerated and blast phase. PMID:33104796
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. PMID:33098347
The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study. PMID:33097823
Slow Growth and Increased Spontaneous Mutation Frequency in Respiratory Deficient afo1 - Yeast Suppressed by a Dominant Mutation in ATP3. PMID:33093184
A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism. PMID:33090996
Reference exome data for a Northern Brazilian population. PMID:33087711
Gene expression variability in human and chimpanzee populations share common determinants. PMID:33084571
Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients. PMID:33077847
Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity. PMID:33067454
A natural variant of the essential host gene MMS21 restricts the parasitic 2-micron plasmid in Saccharomyces cerevisiae. PMID:33063663
Ultrafast and scalable variant annotation and prioritization with big functional genomics data. PMID:33060171
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome. PMID:33060134
Programmable C-to-U RNA editing using the human APOBEC3A deaminase. PMID:33058229
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells. PMID:33057200
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
Genomic and transcriptional analysis of genes containing fibrinogen and IgSF domains in the schistosome vector Biomphalaria glabrata, with emphasis on the differential responses of snails susceptible or resistant to Schistosoma mansoni. PMID:33052953
PheWAS-ME: a web-app for interactive exploration of multimorbidity patterns in PheWAS. PMID:33051675
SWATH-MS based proteomic profiling of pancreatic ductal adenocarcinoma tumours reveals the interplay between the extracellular matrix and related intracellular pathways. PMID:33048956
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. PMID:33048444
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes. PMID:33046911
A de novo frameshift mutation in ZEB2 causes polledness, abnormal skull shape, small body stature and subfertility in Fleckvieh cattle. PMID:33046754
An online coronavirus analysis platform from the National Genomics Data Center. PMID:33045776
Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics. PMID:33045747
Somatic mutation profiling in BRCA-negative breast and ovarian cancer patients by multigene panel sequencing. PMID:33042626
Detection of genomic alterations in breast cancer with circulating tumour DNA sequencing. PMID:33033274
Generating realistic null hypothesis of cancer mutational landscapes using SigProfilerSimulator. PMID:33028213
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis. PMID:33025139
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. PMID:33004838
Confirmed effects of candidate variants for milk production, udder health, and udder morphology in dairy cattle. PMID:32998688
Whole exome sequencing identifies rare coding variants in novel human-mouse ortholog genes in African individuals diagnosed with non-syndromic hearing impairment. PMID:32996353
CSVS, a crowdsourcing database of the Spanish population genetic variability. PMID:32990755
Venetoclax Plus Rituximab in Relapsed Chronic Lymphocytic Leukemia: 4-Year Results and Evaluation of Impact of Genomic Complexity and Gene Mutations From the MURANO Phase III Study. PMID:32986498
Genome analysis of American minks reveals link of mutations in Ras-related protein-38 gene to Moyle brown coat phenotype. PMID:32985525
Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing. PMID:32985468
Telomere Maintenance Associated Mutations in the Genetic Landscape of Gynecological Mucosal Melanoma. PMID:32984050
Mucinous Adenocarcinoma of the Rectum: A Whole Genome Sequencing Study. PMID:32984045
Genomic Characteristics and Selection Signatures in Indigenous Chongming White Goat (Capra hircus). PMID:32973871
Independent evolution of cutaneous lymphoma subclones in different microenvironments of the skin. PMID:32968137
Risk prediction of late-onset Alzheimer's disease implies an oligogenic architecture. PMID:32968074
Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women. PMID:32966694
Prioritizing sequence variants in conserved non-coding elements in the chicken genome using chCADD. PMID:32966296
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. PMID:32963807
VAV2 signaling promotes regenerative proliferation in both cutaneous and head and neck squamous cell carcinoma. PMID:32963234
Review on the Computational Genome Annotation of Sequences Obtained by Next-Generation Sequencing. PMID:32962098
Extensive germline genome engineering in pigs. PMID:32958897
Whole genome analysis of water buffalo and global cattle breeds highlights convergent signatures of domestication. PMID:32958756
PTPRG is an ischemia risk locus essential for HCO3--dependent regulation of endothelial function and tissue perfusion. PMID:32955439
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India. PMID:32948948
An integrated personal and population-based Egyptian genome reference. PMID:32948767
TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema. PMID:32947856
Systematic analysis of bypass suppression of essential genes. PMID:32939983
Precision medicine identifies a pathogenic variant of the ITGA2B gene responsible for Glanzmann's thrombasthenia in a cat. PMID:32935881
Potential impact on coagulopathy of gene variants of coagulation related proteins that interact with SARS-CoV-2. PMID:32935103
Cancer-specific CTCF binding facilitates oncogenic transcriptional dysregulation. PMID:32933554
Whole-Exome Profiling of NSCLC Among African Americans. PMID:32931935
Evolutionary dynamics of neoantigens in growing tumors. PMID:32929288
The mutational landscape of histiocytic sarcoma associated with lymphoid malignancy. PMID:32929178
Annotating high-impact 5'untranslated region variants with the UTRannotator. PMID:32926138
Pathogenic Germline DNA Repair Gene and HOXB13 Mutations in Men With Metastatic Prostate Cancer. PMID:32923906
Identification of a neo-epitope dominating endogenous CD8 T cell responses to MC-38 colorectal cancer. PMID:32923109
Genome-wide detection of signatures of selection in indicine and Brazilian locally adapted taurine cattle breeds using whole-genome re-sequencing data. PMID:32917133
A whole-genome sequenced control population in northern Sweden reveals subregional genetic differences. PMID:32915809
Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement. PMID:32911714
Epigenetic gene silencing by heterochromatin primes fungal resistance. PMID:32908306
Cytogenetically visible inversions are formed by multiple molecular mechanisms. PMID:32906200
Glucagon-like peptide-1 receptor and sarcoglycan delta genetic variants can affect cardiovascular risk in chronic kidney disease patients under hemodialysis. PMID:32905248
Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population. PMID:32902719
Aneuploidy-induced proteotoxic stress can be effectively tolerated without dosage compensation, genetic mutations, or stress responses. PMID:32900371
Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases. PMID:32895551
A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs. PMID:32894063
Proteogenomic analysis of melanoma brain metastases from distinct anatomical sites identifies pathways of metastatic progression. PMID:32891176
The Polygenic and Monogenic Basis of Blood Traits and Diseases. PMID:32888494
A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog. PMID:32887425
Towards personalized induction therapy for esophageal adenocarcinoma: organoids derived from endoscopic biopsy recapitulate the pre-treatment tumor. PMID:32884042
Antitumor activity of the dual BET and CBP/EP300 inhibitor NEO2734. PMID:32882003
The Evolution of the Mammalian ABCA6-like Genes: Analysis of Phylogenetic, Expression, and Population Genetic Data Reveals Complex Evolutionary Histories. PMID:32877505
The genomic landscape of Mongolian hepatocellular carcinoma. PMID:32873799
Whole genome sequencing analysis of high confidence variants of B-cell lymphoma in Canis familiaris. PMID:32857815
Germline Sequencing DNA Repair Genes in 5545 Men With Aggressive and Nonaggressive Prostate Cancer. PMID:32853339
PSCAN: Spatial scan tests guided by protein structures improve complex disease gene discovery and signal variant detection. PMID:32847609
Assessing performance of pathogenicity predictors using clinically relevant variant datasets. PMID:32843488
Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease. PMID:32843070
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations. PMID:32831124
Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data. PMID:32824926
Spontaneous mutations in the single TTN gene represent high tumor mutation burden. PMID:32821429
A method for scoring the cell type-specific impacts of noncoding variants in personal genomes. PMID:32817564
High genetic burden of type 2 diabetes can promote the high prevalence of disease: a longitudinal cohort study in Iran. PMID:32814780
Identification of strong candidate genes for backfat and intramuscular fatty acid composition in three crosses based on the Iberian pig. PMID:32811870
3D imaging of colorectal cancer organoids identifies responses to Tankyrase inhibitors. PMID:32810173
Weighted single-step genomic best linear unbiased prediction integrating variants selected from sequencing data by association and bioinformatics analyses. PMID:32799816
Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes. PMID:32799607
Do damaging variants of SLC6A9, the gene for the glycine transporter 1 (GlyT-1), protect against schizophrenia? PMID:32796235
Identification of Undetected Monogenic Cardiovascular Disorders. PMID:32792077
Interpretation of psychiatric genome-wide association studies with multispecies heterogeneous functional genomic data integration. PMID:32791514
Pre-Existing Tumoral B Cell Infiltration and Impaired Genome Maintenance Correlate with Response to Chemoradiotherapy in Locally Advanced Rectal Cancer. PMID:32784964
S-Adenosylmethionine Treatment of Colorectal Cancer Cell Lines Alters DNA Methylation, DNA Repair and Tumor Progression-Related Gene Expression. PMID:32784836
TERT Promoter Mutation as an Independent Prognostic Marker for Poor Prognosis MAPK Inhibitors-Treated Melanoma. PMID:32784823
Modeling the Diversity of Epithelial Ovarian Cancer through Ten Novel Well Characterized Cell Lines Covering Multiple Subtypes of the Disease. PMID:32784519
Genomic Analysis of Localized High-Risk Prostate Cancer Circulating Tumor Cells at the Single-Cell Level. PMID:32784507
RNA-Seq based genetic variant discovery provides new insights into controlling fat deposition in the tail of sheep. PMID:32782325
Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations. PMID:32778766
Population-scale proteome variation in human induced pluripotent stem cells. PMID:32773033
Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer? PMID:32772980
Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk. PMID:32772081
Korean Genome Project: 1094 Korean personal genomes with clinical information. PMID:32766443
Rare or Overlooked? Structural Disruption of Regulatory Domains in Human Neurocristopathies. PMID:32765580
Host Genetic and Gut Microbial Signatures in Familial Inflammatory Bowel Disease. PMID:32764209
Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer. PMID:32761968
A point mutation decouples the lipid transfer activities of microsomal triglyceride transfer protein. PMID:32760060
Rational discovery of molecular glue degraders via scalable chemical profiling. PMID:32747809
Heritable gene expression variability and stochasticity govern clonal heterogeneity in circadian period. PMID:32745129
The First Case of an Infant with Familial A20 Haploinsufficiency in Korea. PMID:32743991
Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors. PMID:32738923
Distinct genetic architectures and environmental factors associate with host response to the γ2-herpesvirus infections. PMID:32737300
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants. PMID:32735577
Development and validation of Houston Methodist Variant Viewer version 3: updates to our application for interpretation of next-generation sequencing data. PMID:32734171
NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family. PMID:32733554
Desaturase Activity and the Risk of Type 2 Diabetes and Coronary Artery Disease: A Mendelian Randomization Study. PMID:32731631
Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic etiology of ocular diseases. PMID:32716492
Accounting for diverse evolutionary forces reveals mosaic patterns of selection on human preterm birth loci. PMID:32709900
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. PMID:32707087
Unique genomic and neoepitope landscapes across tumors: a study across time, tissues, and space within a single lynch syndrome patient. PMID:32699259
Clinical BRCA1/2 Reversion Analysis Identifies Hotspot Mutations and Predicted Neoantigens Associated with Therapy Resistance. PMID:32699032
Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians. PMID:32698834
Characterization of Driver Mutations in Anaplastic Thyroid Carcinoma Identifies RAS and PIK3CA Mutations as Negative Survival Predictors. PMID:32698386
Genome-wide association study for feed efficiency in collective cage-raised rabbits under full and restricted feeding. PMID:32697387
Genome-Wide Somatic Alterations in Multiple Myeloma Reveal a Superior Outcome Group. PMID:32687451
Genomic diversity revealed by whole-genome sequencing in three Danish commercial pig breeds. PMID:32687196
Prevalence of PKD1 gene mutation in cats in Turkey and pathogenesis of feline polycystic kidney disease. PMID:32687010
Identifying disease-causing mutations with privacy protection. PMID:32683440
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families. PMID:32682410
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population. PMID:32681121
Cross-species oncogenic signatures of breast cancer in canine mammary tumors. PMID:32680987
Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach. PMID:32678143
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit. PMID:32668698
Children's rare disease cohorts: an integrative research and clinical genomics initiative. PMID:32655885
Personalised mapping of tumour development in synchronous colorectal cancer patients. PMID:32655884
Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease Research. PMID:32655481
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. PMID:32655138
The role of copy-number variation in the reinforcement of sexual isolation between the two European subspecies of the house mouse. PMID:32654648
Impact of diet and genes on murine autoimmune pancreatitis. PMID:32643288
Single-cell genomics reveals the genetic and molecular bases for escape from mutational epistasis in myeloid neoplasms. PMID:32640014
Genetic architecture of host proteins interacting with SARS-CoV-2. PMID:32637948
Meta-analysis for milk fat and protein percentage using imputed sequence variant genotypes in 94,321 cattle from eight cattle breeds. PMID:32635893
Genomic characteristics and drug screening among organoids derived from non-small cell lung cancer patients. PMID:32633046
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci. PMID:32620954
Germline de novo mutation rates on exons versus introns in humans. PMID:32620809
Integrated pharmaco-proteogenomics defines two subgroups in isocitrate dehydrogenase wild-type glioblastoma with prognostic and therapeutic opportunities. PMID:32620753
Postadmixture Selection on Chileans Targets Haplotype Involved in Pigmentation, Thermogenesis and Immune Defense against Pathogens. PMID:32614437
Differential Gene Expression and Allele Frequency Changes Favour Adaptation of a Heterogeneous Yeast Population to Nitrogen-Limited Fermentations. PMID:32612585
Genetic Variation Bias toward Noncoding Regions and Secreted Proteins in the Rice Blast Fungus Magnaporthe oryzae. PMID:32606028
Genetic drug target validation using Mendelian randomisation. PMID:32591531
Whole-genome sequencing of European autochthonous and commercial pig breeds allows the detection of signatures of selection for adaptation of genetic resources to different breeding and production systems. PMID:32591011
Shared genetic etiology underlying late-onset Alzheimer's disease and posttraumatic stress syndrome. PMID:32588970
Analysis of genetically independent phenotypes identifies shared genetic factors associated with chronic musculoskeletal pain conditions. PMID:32587327
Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants. PMID:32586322
Evaluation of T-Cell Responses Against Shared Melanoma Associated Antigens and Predicted Neoantigens in Cutaneous Melanoma Patients Treated With the CSF-470 Allogeneic Cell Vaccine Plus BCG and GM-CSF. PMID:32582212
Monogenic and polygenic inheritance become instruments for clonal selection. PMID:32581363
Whole-genome sequencing of patients with rare diseases in a national health system. PMID:32581362
863 genomes reveal the origin and domestication of chicken. PMID:32581344
G6PD variant distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19. PMID:32577690
Allele-specific expression is widespread in Bos indicus muscle and affects meat quality candidate genes. PMID:32576896
ACE2 and TMPRSS2 variation in savanna monkeys (Chlorocebus spp.): Potential risk for zoonotic/anthroponotic transmission of SARS-CoV-2 and a potential model for functional studies. PMID:32574196
Molecular landscape and clonal architecture of adult myelodysplastic/myeloproliferative neoplasms. PMID:32573691
Somatic genetic aberrations in benign breast disease and the risk of subsequent breast cancer. PMID:32566745
Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally? PMID:32560373
Association of Dopamine Transporter Gene with Heroin Dependence in an Indian Subpopulation from Manipur. PMID:32557146
Combination of variations in inflammation- and endoplasmic reticulum-associated genes as putative biomarker for bevacizumab response in KRAS wild-type colorectal cancer. PMID:32555399
Spontaneous Tumor Regression in Tasmanian Devils Associated with RASL11A Activation. PMID:32554701
Application of targeted next generation sequencing for the mutational profiling of patients with acute lymphoblastic leukemia. PMID:32550823
Comparison of suspected Lynch syndrome patients carrying BRCA and BRCA-like variants with Lynch syndrome probands: Phenotypic characteristics and pedigree analyses. PMID:32548945
Transcriptome, Spliceosome and Editome Expression Patterns of the Porcine Endometrium in Response to a Single Subclinical Dose of Salmonella Enteritidis Lipopolysaccharide. PMID:32545766
Imputation for sequencing variants preselected to a customized low-density chip. PMID:32533087
Clonal hematopoiesis is associated with adverse outcomes in multiple myeloma patients undergoing transplant. PMID:32533060
Population Structure, Stratification, and Introgression of Human Structural Variation. PMID:32531199
Proteogenomic Characterization of Ovarian HGSC Implicates Mitotic Kinases, Replication Stress in Observed Chromosomal Instability. PMID:32529193
Genetic Basis and Prognostic Value of Exercise QT Dynamics. PMID:32527199
Whole-genome sequencing provides new insights into genetic mechanisms of tropical adaptation in Nellore (Bos primigenius indicus). PMID:32523018
Natural Selection Shapes Codon Usage in the Human Genome. PMID:32516569
Insights on early mutational events in SARS-CoV-2 virus reveal founder effects across geographical regions. PMID:32509472
Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review. PMID:32508881
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness. PMID:32504085
Branched evolution and genomic intratumor heterogeneity in the pathogenesis of cutaneous T-cell lymphoma. PMID:32502269
Whole-genome sequencing of a sporadic primary immunodeficiency cohort. PMID:32499645
HemoMIPs-Automated analysis and result reporting pipeline for targeted sequencing data. PMID:32497118
SNPnexus: a web server for functional annotation of human genome sequence variation (2020 update). PMID:32496546
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription. PMID:32492392
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. PMID:32487729
Duplication in ECR Near HMX1 and a SNP in GATA6 Genes Regulate Microtia in Awassi Sheep. PMID:32481741
Clonal lineage from normal endometrium to ovarian clear cell carcinoma through ovarian endometriosis. PMID:32473611
A novel genomic region on chromosome 11 associated with fearfulness in dogs. PMID:32467585
The effect of LRRK2 loss-of-function variants in humans. PMID:32461697
Transcript expression-aware annotation improves rare variant interpretation. PMID:32461655
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. PMID:32461616
Mapping and characterization of structural variation in 17,795 human genomes. PMID:32460305
Molecular patterns in salivary duct carcinoma identify prognostic subgroups. PMID:32457410
Transcriptome profiling of porcine testis tissue reveals genes related to sperm hyperactive motility. PMID:32456687
Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy. PMID:32453872
Identification of single nucleotide pleomorphisms associated with periodontal disease in head and neck cancer irradiation patients by exome sequencing. PMID:32451231
Exome-Wide Analysis of the DiscovEHR Cohort Reveals Novel Candidate Pharmacogenomic Variants for Clinical Pharmacogenomics. PMID:32443490
Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction. PMID:32439900
Personalized neoantigen-based immunotherapy for advanced collecting duct carcinoma: case report. PMID:32439798
A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels. PMID:32417001
Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility. PMID:32407316
Gene networks and expression quantitative trait loci associated with adjuvant chemotherapy response in high-grade serous ovarian cancer. PMID:32404140
Twelve New Genomic Loci Associated With Bone Mineral Density. PMID:32390946
The Identification of Admixture Patterns Could Refine Pharmacogenetic Counseling: Analysis of a Population-Based Sample in Mexico. PMID:32390825
Localized Hypertrophic Neuropathy as a Neoplastic Manifestation of KRAS-Mediated RASopathy. PMID:32388560
Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval. PMID:32386560
Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract. PMID:32384692
Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. PMID:32382064
Single nucleotide polymorphisms affect RNA-protein interactions at a distance through modulation of RNA secondary structures. PMID:32379750
A Preliminary Study to Investigate the Genetic Background of Longevity Based on Whole-Genome Sequence Data of Two Methuselah Dogs. PMID:32373156
Unmasking Intra-tumoral Heterogeneity and Clonal Evolution in NF1-MPNST. PMID:32369930
Human Prehistoric Demography Revealed by the Polymorphic Pattern of CpG Transitions. PMID:32369585
Hypoxia increases mutational load of breast cancer cells through frameshift mutations. PMID:32363122
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History. PMID:32347951
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate. PMID:32347641
Parallel Genetic Origin of Foot Feathering in Birds. PMID:32344429
Methodological differences can affect sequencing depth with a possible impact on the accuracy of genetic diagnosis. PMID:32343762
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay. PMID:32338762
VarFish: comprehensive DNA variant analysis for diagnostics and research. PMID:32338743
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. PMID:32337771
C/EBPα and GATA-2 Mutations Induce Bilineage Acute Erythroid Leukemia through Transformation of a Neomorphic Neutrophil-Erythroid Progenitor. PMID:32330454
Extensive In Silico Analysis of ATL1 Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A. PMID:32322428
The evolving role of Fourier-transform mid-infrared spectroscopy in genetic improvement of dairy cattle. PMID:32322393
Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa. PMID:32322264
Mechanisms and therapeutic implications of hypermutation in gliomas. PMID:32322066
Identification of Candidate Genes Associated with Susceptibility to Ovarian Clear Cell Adenocarcinoma Using cis-eQTL Analysis. PMID:32316112
Genetic characterization of a unique neuroendocrine transdifferentiation prostate circulating tumor cell-derived eXplant model. PMID:32313004
Genome-wide genetic structure and selection signatures for color in 10 traditional Chinese yellow-feathered chicken breeds. PMID:32312230
Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction. PMID:32303876
Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. PMID:32300136
Germline Elongator mutations in Sonic Hedgehog medulloblastoma. PMID:32296180
Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia. PMID:32296054
TarPan: an easily adaptable targeted sequencing panel viewer for research and clinical use. PMID:32293247
Prot2HG: a database of protein domains mapped to the human genome. PMID:32293014
CScape-somatic: distinguishing driver and passenger point mutations in the cancer genome. PMID:32282885
Association Analysis of Driver Gene-Related Genetic Variants Identified Novel Lung Cancer Susceptibility Loci with 20,871 Lung Cancer Cases and 15,971 Controls. PMID:32277007
Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants. PMID:32269765
Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. PMID:32268104
Phase I Trial of Trametinib with Neoadjuvant Chemoradiation in Patients with Locally Advanced Rectal Cancer. PMID:32253228
Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan. PMID:32251405
pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing. PMID:32245405
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes. PMID:32242007
Somatic synonymous mutations in regulatory elements contribute to the genetic aetiology of melanoma. PMID:32241263
Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era. PMID:32231685
dbMTS: A comprehensive database of putative human microRNA target site SNVs and their functional predictions. PMID:32227657
Common variation at 16p11.2 is associated with glycosuria in pregnancy: findings from a genome-wide association study in European women. PMID:32227112
Strong concordance between RNA structural and single nucleotide variants identified via next generation sequencing techniques in primary pediatric leukemia and patient-derived xenograft samples. PMID:32224839
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. PMID:32214227
UEG Week 2019 Oral Presentations. PMID:32213000
OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine. PMID:32210335
Landscape of Mitochondria Genome and Clinical Outcomes in Stage 1 Lung Adenocarcinoma. PMID:32210009
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
The genetic architecture of breast papillary lesions as a predictor of progression to carcinoma. PMID:32195332
Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations. PMID:32193382
Identification of the ABCC4, IER3, and CBFA2T2 candidate genes for resistance to paratuberculosis from sequence-based GWAS in Holstein and Normande dairy cattle. PMID:32183688
Mendelian Randomization Identifies CpG Methylation Sites With Mediation Effects for Genetic Influences on BMD in Peripheral Blood Monocytes. PMID:32180791
Genome-wide association study of adipocyte lipolysis in the GENetics of adipocyte lipolysis (GENiAL) cohort. PMID:32180562
Selected neuropeptide genes show genetic differentiation between Africans and non-Africans. PMID:32171244
Analysis of gene variants in the GASH/Sal model of epilepsy. PMID:32168507
Gene Polymorphisms in Boar Spermatozoa and Their Associations with Post-Thaw Semen Quality. PMID:32164368
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia. PMID:32160374
Coding and noncoding drivers of mantle cell lymphoma identified through exome and genome sequencing. PMID:32160292
Genetic Diversity, Population Structure and Linkage Disequilibrium Assessment among International Sunflower Breeding Collections. PMID:32155892
Molecular profiling of an osseous metastasis in glioblastoma during checkpoint inhibition: potential mechanisms of immune escape. PMID:32151286
The influence of rare variants in circulating metabolic biomarkers. PMID:32150548
Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features. PMID:32144282
Identification of Structural Variation in Chimpanzees Using Optical Mapping and Nanopore Sequencing. PMID:32143403
Single-cell sperm transcriptomes and variants from fathers of children with and without autism spectrum disorder. PMID:32133155
Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases. PMID:32128391
Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk. PMID:32128252
Effect direction meta-analysis of GWAS identifies extreme, prevalent and shared pleiotropy in a large mammal. PMID:32111961
The genetics of situs inversus without primary ciliary dyskinesia. PMID:32111882
Defining Blood Group Gene Reference Alleles by Long-Read Sequencing: Proof of Concept in the ACKR1 Gene Encoding the Duffy Antigens. PMID:32110191
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders. PMID:32109419
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information. PMID:32098967
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. PMID:32098966
Exploring Integrative Analysis Using the BioMedical Evidence Graph. PMID:32097025
Adaptation to Industrial Stressors Through Genomic and Transcriptional Plasticity in a Bioethanol Producing Fission Yeast Isolate. PMID:32086247
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center. PMID:32084423
Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations. PMID:32084179
DNA and RNA sequencing identified a novel oncogene VPS35 in liver hepatocellular carcinoma. PMID:32071398
ViroPanel: Hybrid Capture and Massively Parallel Sequencing for Simultaneous Detection and Profiling of Oncogenic Virus Infection and Tumor Genome. PMID:32068070
Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families. PMID:32066727
A polygenic predictor of treatment-resistant depression using whole exome sequencing and genome-wide genotyping. PMID:32066715
Tumor suppressor genes and allele-specific expression: mechanisms and significance. PMID:32064050
Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci. PMID:32059762
Epigenetic loss of heterozygosity of Apc and an inflammation-associated mutational signature detected in Lrig1+/--driven murine colonic adenomas. PMID:32059662
SuperFreq: Integrated mutation detection and clonal tracking in cancer. PMID:32053599
Comparative Molecular Life History of Spontaneous Canine and Human Gliomas. PMID:32049048
S100A7/Ran-binding protein 9 coevolution in mammals. PMID:32043173
A genome-wide scan study identifies a single nucleotide substitution in the tyrosinase gene associated with white coat colour in a red deer (Cervus elaphus) population. PMID:32041521
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia. PMID:32040484
Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease. PMID:32035846
pCADD: SNV prioritisation in Sus scrofa. PMID:32033531
Genomic basis for RNA alterations in cancer. PMID:32025019
Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the HMGA2 Gene. PMID:32021365
Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma. PMID:32019284
Neurological safety of oxaliplatin in patients with uncommon variants in Charcot-Marie-tooth disease genes. PMID:32018185
Expanding the phenotypic spectrum in RDH12-associated retinal disease. PMID:32014858
Development of a Precision Medicine Workflow in Hematological Cancers, Aalborg University Hospital, Denmark. PMID:32013121
A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families. PMID:32011687
Sequence conservation of mitochondrial (mt)DNA during expansion of clonal mammary epithelial populations suggests a common mtDNA template in CzechII mice. PMID:32010429
Genome-wide association study on Fourier transform infrared milk spectra for two Danish dairy cattle breeds. PMID:32005101
Genomic regions associated with muscularity in beef cattle differ in five contrasting cattle breeds. PMID:32000665
Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs. PMID:31999692
Candidate Regulators of Dyslipidemia in Chromosome 1 Substitution Lines Using Liver Co-Expression Profiling Analysis. PMID:31998355
Whole Exome Sequencing Study of Parkinson Disease and Related Endophenotypes in the Italian Population. PMID:31998221
Clinical Genome Data Model (cGDM) provides Interactive Clinical Decision Support for Precision Medicine. PMID:31996707
The type of bottleneck matters: Insights into the deleterious variation landscape of small managed populations. PMID:31993080
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts. PMID:31992710
Evaluation of genetic diversity, agronomic traits, and anthracnose resistance in the NPGS Sudan Sorghum Core collection. PMID:31992189
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. PMID:31981491
Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRASG13D. PMID:31980649
CUBIC: an atlas of genetic architecture promises directed maize improvement. PMID:31980033
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly. PMID:31974348
An integrated analysis of public genomic data unveils a possible functional mechanism of psoriasis risk via a long-range ERRFI1 enhancer. PMID:31969149
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population. PMID:31964835
Candidate genes and gene markers for the resistance to porcine pleuropneumonia. PMID:31960078
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. PMID:31957018
Dating genomic variants and shared ancestry in population-scale sequencing data. PMID:31951611
SWEDEGENE-a Swedish nation-wide DNA sample collection for pharmacogenomic studies of serious adverse drug reactions. PMID:31949290
The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis. PMID:31936765
Pigment Intensity in Dogs is Associated with a Copy Number Variant Upstream of KITLG. PMID:31936656
De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia. PMID:31932766
The open targets post-GWAS analysis pipeline. PMID:31930349
Age dependent association of inbreeding with risk for schizophrenia in Egypt. PMID:31928911
Genomic profiling of human vascular cells identifies TWIST1 as a causal gene for common vascular diseases. PMID:31917787
Assessing genomic diversity and signatures of selection in Original Braunvieh cattle using whole-genome sequencing data. PMID:31914939
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases. PMID:31914217
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. PMID:31911677
Selecting likely causal risk factors from high-throughput experiments using multivariable Mendelian randomization. PMID:31911605
An Automated Method To Predict Mouse Gene and Protein Sequences Using Variant Data. PMID:31911484
Heritability of interpack aggression in a wild pedigreed population of North American grey wolves. PMID:31905256
Evolution of Listeria monocytogenes in a Food Processing Plant Involves Limited Single-Nucleotide Substitutions but Considerable Diversification by Gain and Loss of Prophages. PMID:31900305
Molecular and clonal evolution in recurrent metastatic gliosarcoma. PMID:31896544
Functional annotation of de novo variants from healthy individuals. PMID:31896246
Neoantigen-specific immunity in low mutation burden colorectal cancers of the consensus molecular subtype 4. PMID:31888734
Variants in Miro1 Cause Alterations of ER-Mitochondria Contact Sites in Fibroblasts from Parkinson's Disease Patients. PMID:31888276
Identification of pathogenic variant enriched regions across genes and gene families. PMID:31871067
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. PMID:31866047
GTX.Digest.VCF: an online NGS data interpretation system based on intelligent gene ranking and large-scale text mining. PMID:31856831
Detection of a Frameshift Deletion in the SPTBN4 Gene Leads to Prevention of Severe Myopathy and Postnatal Mortality in Pigs. PMID:31850074
Neoantigen Fitness Model Predicts Lower Immune Recognition of Cutaneous Squamous Cell Carcinomas Than Actinic Keratoses. PMID:31849976
Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type. PMID:31849330
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21. PMID:31848685
Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania. PMID:31844061
Transcriptome-wide association study identifies putative elicitors/suppressor of Puccinia graminis f. sp. tritici that modulate barley rpg4-mediated stem rust resistance. PMID:31842749
Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children. PMID:31841498
GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI. PMID:31840077
Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms. PMID:31836783
Using mechanistic models for the clinical interpretation of complex genomic variation. PMID:31831811
ClinVAP: a reporting strategy from variants to therapeutic options. PMID:31830259
A pan-cancer somatic mutation embedding using autoencoders. PMID:31829157
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication. PMID:31823155
Discovery of genomic variations by whole-genome resequencing of the North American Araucana chicken. PMID:31821332
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A. PMID:31814998
The Laboratory Domestication of Zebrafish: From Diverse Populations to Inbred Substrains. PMID:31808937
Potential of TLR-gene diversity in Czech indigenous cattle for resistance breeding as revealed by hybrid sequencing. PMID:31807659
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants. PMID:31801603
EGFR mutation: novel prognostic factor associated with immune infiltration in lower-grade glioma; an exploratory study. PMID:31801484
Carotid Intima-Media Thickness: Novel Loci, Sex-Specific Effects, and Genetic Correlations With Obesity and Glucometabolic Traits in UK Biobank. PMID:31801372
Somatic mutation signatures in primary liver tumors of workers exposed to ionizing radiation. PMID:31796844
Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function. PMID:31787869
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
DNA Sequence Variants and Protein Haplotypes of Casein Genes in German Black Pied Cattle (DSN). PMID:31781175
Complete Multilineage CD4 Expression Defect Associated With Warts Due to an Inherited Homozygous CD4 Gene Mutation. PMID:31781092
Characterization of genetic subclonal evolution in pancreatic cancer mouse models. PMID:31780749
De novo variation in bipolar disorder. PMID:31776463
Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants. PMID:31768057
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. PMID:31768050
VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants. PMID:31765830
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions. PMID:31765389
Natural Variation in a Dendritic Scaffold Protein Remodels Experience-Dependent Plasticity by Altering Neuropeptide Expression. PMID:31757604
Combined Effects of MMP-7, MMP-8 and MMP-26 on the Risk of Ischemic Stroke. PMID:31752174
Genomic Analysis of Posterior Fossa Meningioma Demonstrates Frequent AKT1 E17K Mutations in Foramen Magnum Meningiomas. PMID:31750041
Molecular switch from MYC to MYCN expression in MYC protein negative Burkitt lymphoma cases. PMID:31748534
A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants. PMID:31745173
SPDI: data model for variants and applications at NCBI. PMID:31738401
Multiple antibodies targeting tumor-specific mutations redirect immune cells to inhibit tumor growth and increase survival in experimental animal models. PMID:31732916
Associations of microRNAs, Angiogenesis-Regulating Factors and CFH Y402H Polymorphism-An Attempt to Search for Systemic Biomarkers in Age-Related Macular Degeneration. PMID:31731799
Alterations in ZnT1 expression and function lead to impaired intracellular zinc homeostasis in cancer. PMID:31728210
Clinical and genetic variability in children with partial albinism. PMID:31719542
Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis. PMID:31710517
Genome-wide association analysis reveals QTL and candidate mutations involved in white spotting in cattle. PMID:31703548
Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF. PMID:31700225
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
Ensembl 2020. PMID:31691826
Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results From a National Biobank. PMID:31691645
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition. PMID:31691385
Allelic Variants for Candidate Nitrogen Fixation Genes Revealed by Sequencing in Red Clover (Trifolium pratense L.). PMID:31684086
The DisGeNET knowledge platform for disease genomics: 2019 update. PMID:31680165
Advances in asthma and allergic disease genetics: Is bigger always better? PMID:31677964
pTuneos: prioritizing tumor neoantigens from next-generation sequencing data. PMID:31666118
Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study. PMID:31664177
A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report. PMID:31656537
The use of PanDrugs to prioritize anticancer drug treatments in a case of T-ALL based on individual genomic data. PMID:31655559
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders. PMID:31653860
HOPS: a quantitative score reveals pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases. PMID:31653226
A unicellular relative of animals generates a layer of polarized cells by actomyosin-dependent cellularization. PMID:31647412
Future prospects for dissecting inter-individual variability in the absorption, distribution and elimination of plant bioactives of relevance for cardiometabolic endpoints. PMID:31642982
Genomic Basis of Convergent Island Phenotypes in Boa Constrictors. PMID:31642474
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
Inter- and intra-breed genome-wide copy number diversity in a large cohort of European equine breeds. PMID:31640551
Loss of Imprinting in Human Placentas Is Widespread, Coordinated, and Predicts Birth Phenotypes. PMID:31639821
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
Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome. PMID:31625690
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. PMID:31624253
Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency. PMID:31624068
Patient Dossier: Healthcare queries over distributed resources. PMID:31622330
In Silico Genetics Revealing 5 Mutations in CEBPA Gene Associated With Acute Myeloid Leukemia. PMID:31621694
Precision oncology: lessons learned and challenges for the future. PMID:31616176
TAPES: A tool for assessment and prioritisation in exome studies. PMID:31613886
VarSite: Disease variants and protein structure. PMID:31606900
Contribution of retrotransposition to developmental disorders. PMID:31604926
Genetic regulatory variation in populations informs transcriptome analysis in rare disease. PMID:31601707
Ensembl Genomes 2020-enabling non-vertebrate genomic research. PMID:31598706
Illuminating biological pathways for drug targeting in head and neck squamous cell carcinoma. PMID:31596908
Identification of somatic alterations in lipoma using whole exome sequencing. PMID:31591430
Genetic modification of primary human B cells to model high-grade lymphoma. PMID:31586074
Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort. PMID:31585106
Bayesian localization of CNV candidates in WGS data within minutes. PMID:31572486
Comparative Genomics Reveals Shared Mutational Landscape in Canine Hemangiosarcoma and Human Angiosarcoma. PMID:31570656
Tumor-Based Genetic Testing and Familial Cancer Risk. PMID:31570381
GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank. PMID:31564434
Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain. PMID:31560688
Identification of Acer2 as a First Susceptibility Gene for Lithium-Induced Nephrogenic Diabetes Insipidus in Mice. PMID:31558682
Characterization of disease resistance genes in the Brassica napus pangenome reveals significant structural variation. PMID:31553100
Loss of Janus Associated Kinase 1 Alters Urothelial Cell Function and Facilitates the Development of Bladder Cancer. PMID:31552026
Common brain disorders are associated with heritable patterns of apparent aging of the brain. PMID:31551603
Whole Genome Sequencing of the Mutamouse Model Reveals Strain- and Colony-Level Variation, and Genomic Features of the Transgene Integration Site. PMID:31551502
Mutation profiling of cancer drivers in Brazilian colorectal cancer. PMID:31548566
Variant analysis pipeline for accurate detection of genomic variants from transcriptome sequencing data. PMID:31545812
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. PMID:31544997
Functional interpretation of genetic variants using deep learning predicts impact on chromatin accessibility and histone modification. PMID:31544924
Genetic determinants of cellular addiction to DNA polymerase theta. PMID:31537809
Rare Human Missense Variants can affect the Function of Disease-Relevant Proteins by Loss and Gain of Peroxisomal Targeting Motifs. PMID:31533369
Estimating the Frequency of Single Point Driver Mutations across Common Solid Tumours. PMID:31530827
The Genome of the Endangered Dryas Monkey Provides New Insights into the Evolutionary History of the Vervets. PMID:31529046
Safety evaluation of conditionally immortalized cells for renal replacement therapy. PMID:31523392
Identification of bovine CpG SNPs as potential targets for epigenetic regulation via DNA methylation. PMID:31513639
regBase: whole genome base-wise aggregation and functional prediction for human non-coding regulatory variants. PMID:31511901
Late-differentiated effector neoantigen-specific CD8+ T cells are enriched in peripheral blood of non-small cell lung carcinoma patients responding to atezolizumab treatment. PMID:31511069
Gene-diet interactions associated with complex trait variation in an advanced intercross outbred mouse line. PMID:31506438
A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity. PMID:31504550
A Rare Mutation in SPLUNC1 Affects Bacterial Adherence and Invasion in Meningococcal Disease. PMID:31504285
Quantifying the contribution of sequence variants with regulatory and evolutionary significance to 34 bovine complex traits. PMID:31501319
Pathway analysis of genomic pathology tests for prognostic cancer subtyping. PMID:31499184
Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. PMID:31477735
The molecular origin and taxonomy of mucinous ovarian carcinoma. PMID:31477716
Marker discovery and associations with β-carotene content in Indian dairy cattle and buffalo breeds. PMID:31477308
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients. PMID:31475473
GRAM: A GeneRAlized Model to predict the molecular effect of a non-coding variant in a cell-type specific manner. PMID:31469829
An analysis of genetic heterogeneity in untreated cancers. PMID:31455892
A first genetic portrait of synaptonemal complex variation. PMID:31449519
Identification of predictive genetic signatures of Cytarabine responsiveness using a 3D acute myeloid leukaemia model. PMID:31449347
Neoantigen vaccine: an emerging tumor immunotherapy. PMID:31443694
A Phase Ib Study of the Combination of Personalized Autologous Dendritic Cell Vaccine, Aspirin, and Standard of Care Adjuvant Chemotherapy Followed by Nivolumab for Resected Pancreatic Adenocarcinoma-A Proof of Antigen Discovery Feasibility in Three Patients. PMID:31440238
Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants. PMID:31439692
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data. PMID:31433103
Meta-MultiSKAT: Multiple phenotype meta-analysis for region-based association test. PMID:31433078
Gene Expression Profiling Analysis Reveals Putative Phytochemotherapeutic Target for Castration-Resistant Prostate Cancer. PMID:31428582
A high resolution A-to-I editing map in the mouse identifies editing events controlled by pre-mRNA splicing. PMID:31427386
The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk. PMID:31413141
GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits. PMID:31409800
Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1. PMID:31409373
Whole genome sequencing and rare variant analysis in essential tremor families. PMID:31404076
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks. PMID:31398340
ALG9 Mutation Carriers Develop Kidney and Liver Cysts. PMID:31395617
Adaptation to Extreme Environments in an Admixed Human Population from the Atacama Desert. PMID:31384924
Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models. PMID:31372844
Deep targeted sequencing analysis of hot spot mutations in non-small cell lung cancer patients from the Middle Eastern population. PMID:31372275
Somatic evolution and global expansion of an ancient transmissible cancer lineage. PMID:31371581
Exome sequencing of Finnish isolates enhances rare-variant association power. PMID:31367044
Uncovering missed indels by leveraging unmapped reads. PMID:31366961
PathwayMatcher: proteoform-centric network construction enables fine-granularity multiomics pathway mapping. PMID:31363752
High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer. PMID:31358837
Global view of the RAF-MEK-ERK module and its immediate downstream effectors. PMID:31350469
Inosine RNA modifications are enriched at the codon wobble position in mouse oocytes and eggs†. PMID:31346607
Molecular Profiling Reclassifies Adult Astroblastoma into Known and Clinically Distinct Tumor Entities with Frequent Mitogen-Activated Protein Kinase Pathway Alterations. PMID:31346129
Canine osteosarcoma genome sequencing identifies recurrent mutations in DMD and the histone methyltransferase gene SETD2. PMID:31341965
Histologic features and genomic alterations of primary colorectal adenocarcinoma predict growth patterns of liver metastasis. PMID:31341365
Exome-Wide Rare Variant Analysis From the DiscovEHR Study Identifies Novel Candidate Predisposition Genes for Endometrial Cancer. PMID:31338326
Genetic Aberration Analysis in Thai Colorectal Adenoma and Early-Stage Adenocarcinoma Patients by Whole-Exome Sequencing. PMID:31336886
ANGPT2 and NOS3 Polymorphisms and Clinical Outcome in Advanced Hepatocellular Carcinoma Patients Receiving Sorafenib. PMID:31330833
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. PMID:31328417
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. PMID:31327507
Induction of Acquired Resistance towards EGFR Inhibitor Gefitinib in a Patient-Derived Xenograft Model of Non-Small Cell Lung Cancer and Subsequent Molecular Characterization. PMID:31323891
Single-Nucleotide Polymorphisms Sequencing Identifies Candidate Functional Variants at Prostate Cancer Risk Loci. PMID:31323811
Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma. PMID:31320741
Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets. PMID:31320640
Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report. PMID:31309178
Contributions of Rare Gene Variants to Familial and Sporadic FSGS. PMID:31308072
Recurrent miscalling of missense variation from short-read genome sequence data. PMID:31307400
GWAS for Meat and Carcass Traits Using Imputed Sequence Level Genotypes in Pooled F2-Designs in Pigs. PMID:31296617
CoMutPlotter: a web tool for visual summary of mutations in cancer cohorts. PMID:31296206
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. PMID:31294896
Dissecting in silico Mutation Prediction of Variants in African Genomes: Challenges and Perspectives. PMID:31293624
Genomic and Transcriptomic Determinants of Therapy Resistance and Immune Landscape Evolution during Anti-EGFR Treatment in Colorectal Cancer. PMID:31287991
Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease. PMID:31283791
VIPdb, a genetic Variant Impact Predictor Database. PMID:31283070
Improvement of genomic prediction by integrating additional single nucleotide polymorphisms selected from imputed whole genome sequencing data. PMID:31278370
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data. PMID:31278258
Implementing the FAIR Data Principles in precision oncology: review of supporting initiatives. PMID:31263868
Sequence-based GWAS, network and pathway analyses reveal genes co-associated with milk cheese-making properties and milk composition in Montbéliarde cows. PMID:31262251
Paternal exposure to benzo(a)pyrene induces genome-wide mutations in mouse offspring. PMID:31240266
Integrative genomic analysis of matched primary and metastatic pediatric osteosarcoma. PMID:31236944
PhenoScanner V2: an expanded tool for searching human genotype-phenotype associations. PMID:31233103
Data on somatic mutations obtained by whole exome sequencing of FFPE tissue samples from Russian patients with prostate cancer. PMID:31223638
Effects of somatic alterations at pathway level are more mechanism-explanatory and clinically applicable to quantity of liver metastases of colorectal cancer. PMID:31219228
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants. PMID:31216868
The identification of a TNBC liver metastasis gene signature by sequential CTC-xenograft modeling. PMID:31216110
Mechanisms of immunogenicity in colorectal cancer. PMID:31216061
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. PMID:31215115
Investigation of Genetic Susceptibility to Blastomycosis Reveals Interleukin-6 as a Potential Susceptibility Locus. PMID:31213563
Aquatic Adaptation and Depleted Diversity: A Deep Dive into the Genomes of the Sea Otter and Giant Otter. PMID:31212313
Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel. PMID:31207142
Analysis of pleiotropic genetic effects on cognitive impairment, systemic inflammation, and plasma lipids in the Health and Retirement Study. PMID:31201950
VarMap: a web tool for mapping genomic coordinates to protein sequence and structure and retrieving protein structural annotations. PMID:31192369
A catalog of single nucleotide changes distinguishing modern humans from archaic hominins. PMID:31186485
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. PMID:31180157
Whole exome sequencing and methylation‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients. PMID:31173236
Comparative genomics provides new insights into the remarkable adaptations of the African wild dog (Lycaon pictus). PMID:31171819
MTR-Viewer: identifying regions within genes under purifying selection. PMID:31170280
Defining the genetic control of human blood plasma N-glycome using genome-wide association study. PMID:31163085
VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects. PMID:31161195
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. PMID:31160820
Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs. PMID:31160700
A case study of a long-term glioblastoma survivor with unmethylated MGMT and hypermutated genotype. PMID:31160353
Whole-Exome Sequencing Identifies Somatic Mutations Associated With Mortality in Metastatic Clear Cell Kidney Carcinoma. PMID:31156702
Targeting Mutated Plus Germline Epitopes Confers Pre-clinical Efficacy of an Instantly Formulated Cancer Nano-Vaccine. PMID:31156619
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. PMID:31147538
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge. PMID:31144778
The Genomic and Immune Landscapes of Lethal Metastatic Breast Cancer. PMID:31141692
The Kipoi repository accelerates community exchange and reuse of predictive models for genomics. PMID:31138913
Rare variant phasing using paired tumor:normal sequence data. PMID:31132991
Transcriptome analysis of gingival tissues of enamel-renal syndrome. PMID:31131889
VCF-Server: A web-based visualization tool for high-throughput variant data mining and management. PMID:31127704
Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome. PMID:31124294
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. PMID:31118516
Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report. PMID:31118044
A new chicken 55K SNP genotyping array. PMID:31117951
Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs. PMID:31117290
Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database. PMID:31114901
Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes. PMID:31114635
Mutational landscape in genetically engineered, carcinogen-induced, and radiation-induced mouse sarcoma. PMID:31112524
Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia. PMID:31112269
Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report. PMID:31101089
Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy. PMID:31095341
Genetic variation in CADM2 as a link between psychological traits and obesity. PMID:31089183
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene. PMID:31088393
Targeted deep sequencing of urothelial bladder cancers and associated urinary DNA: a 23-gene panel with utility for non-invasive diagnosis and risk stratification. PMID:31077629
Gigwa v2-Extended and improved genotype investigator. PMID:31077313
Weighting sequence variants based on their annotation increases the power of genome-wide association studies in dairy cattle. PMID:31077144
A Premature Stop Codon in RAF1 Is the Priority Candidate Causative Mutation of the Inherited Chicken Wingless-2 Developmental Syndrome. PMID:31075853
PhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants. PMID:31075275
Identification of disease-associated loci using machine learning for genotype and network data integration. PMID:31070705
Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis. PMID:31070582
Targeted Sequencing Study to Uncover Shared Genetic Susceptibility Between Peripheral Artery Disease and Coronary Heart Disease-Brief Report. PMID:31070467
CAGI 5 splicing challenge: Improved exon skipping and intron retention predictions with MMSplice. PMID:31070280
A fully-automated event-based variant prioritizing solution to the CAGI5 intellectual disability gene panel challenge. PMID:31066479
Association of Variants in PINX1 and TREM2 With Late-Onset Alzheimer Disease. PMID:31058951
Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population. PMID:31053132
MOSClip: multi-omic and survival pathway analysis for the identification of survival associated gene and modules. PMID:31049575
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. PMID:31048081
Gain-of-Function Mutations: An Emerging Advantage for Cancer Biology. PMID:31047772
SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data. PMID:31045209
Identification of a Locus in Mice that Regulates the Collateral Damage and Lethality of Virus Infection. PMID:31042467
Examining the Impact of Imputation Errors on Fine-Mapping Using DNA Methylation QTL as a Model Trait. PMID:31040117
ClinOmicsTrailbc: a visual analytics tool for breast cancer treatment stratification. PMID:31038669
[Detection and interpretation of somatic variants in molecular pathology]. PMID:31037375
Genetics of adaptation in modern chicken. PMID:31034467
Differential effects on neurodevelopment of FTO variants in obesity and bipolar disorder suggested by in silico prediction of functional impact: An analysis in Mexican population. PMID:31033179
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania. PMID:31028937
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics. PMID:31026367
Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening. PMID:31026269
Recent advances in understanding the molecular genetic basis of mitochondrial disease. PMID:31021000
Systems Approach to Identify Common Genes and Pathways Associated with Response to Selective Serotonin Reuptake Inhibitors and Major Depression Risk. PMID:31018568
Mutational landscape of canine B-cell lymphoma profiled at single nucleotide resolution by RNA-seq. PMID:31017932
Sequencing of human genomes with nanopore technology. PMID:31015479
Varicose veins of lower extremities: Insights from the first large-scale genetic study. PMID:30998689
Removal of alleles by genome editing (RAGE) against deleterious load. PMID:30995904
Transcriptome-wide off-target RNA editing induced by CRISPR-guided DNA base editors. PMID:30995674
Genome-Wide SNP Discovery in Indigenous Cattle Breeds of South Africa. PMID:30988672
Comparing signals of natural selection between three Indigenous North American populations. PMID:30988184
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders. PMID:30985853
Integrated Transcriptomic and Proteomic Analysis of Primary Human Umbilical Vein Endothelial Cells. PMID:30983154
Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis. PMID:30976013
Genome-wide association study of suicide attempt in a Mexican population: a study protocol. PMID:30975676
A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle. PMID:30975085
A QTL for Number of Teats Shows Breed Specific Effects on Number of Vertebrae in Pigs: Bridging the Gap Between Molecular and Quantitative Genetics. PMID:30972109
A genome-wide association study of tramadol metabolism from post-mortem samples. PMID:30971809
A Multi-Trait Approach Identified Genetic Variants Including a Rare Mutation in RGS3 with Impact on Abnormalities of Cardiac Structure/Function. PMID:30971721
Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature. PMID:30968303
Identification and Validation of a Biomarker Signature in Patients With Resectable Pancreatic Cancer via Genome-Wide Screening for Functional Genetic Variants. PMID:30942874
Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology. PMID:30940804
Germline deletion of ETV6 in familial acute lymphoblastic leukemia. PMID:30940639
Prioritizing candidate genes for fertility in dairy cows using gene-based analysis, functional annotation and differential gene expression. PMID:30935378
Targeted enrichment by solution-based hybrid capture to identify genetic sequence variants in barley. PMID:30931948
Placenta Transcriptome Profiling in Intrauterine Growth Restriction (IUGR). PMID:30917529
A geographically matched control population efficiently limits the number of candidate disease-causing variants in an unbiased whole-genome analysis. PMID:30917156
Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation. PMID:30914438
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies. PMID:30911571
Genomic Analysis in the Age of Human Genome Sequencing. PMID:30901550
Gene Expression Networks Across Multiple Tissues Are Associated with Rates of Molecular Evolution in Wild House Mice. PMID:30889893
Undifferentiated Sarcomas Develop through Distinct Evolutionary Pathways. PMID:30889380
Using Whole Genome Sequencing in an African Subphenotype of Myasthenia Gravis to Generate a Pathogenetic Hypothesis. PMID:30881381
Loss of function mutations in essential genes cause embryonic lethality in pigs. PMID:30875370
Exonic sequencing identifies TLR1 genetic variation associated with mortality in Thais with melioidosis. PMID:30866782
Survey of allele specific expression in bovine muscle. PMID:30862965
Integrative genomic analysis of peritoneal malignant mesothelioma: understanding a case with extraordinary chemotherapy response. PMID:30862609
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome. PMID:30859559
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects. PMID:30859180
Interrogation of human hematopoiesis at single-cell and single-variant resolution. PMID:30858613
Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy. PMID:30858532
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. PMID:30847515
Genetic Variation in Pan Species Is Shaped by Demographic History and Harbors Lineage-Specific Functions. PMID:30847478
Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation. PMID:30847336
Urban colonization through multiple genetic lenses: The city-fox phenomenon revisited. PMID:30847091
Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease. PMID:30842500
UniProt genomic mapping for deciphering functional effects of missense variants. PMID:30840782
The neoepitope landscape of breast cancer: implications for immunotherapy. PMID:30832597
Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene. PMID:30828495
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. PMID:30827497
A pathway-driven predictive model of tramadol pharmacogenetics. PMID:30824817
Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings. PMID:30824715
Genomic Features of Exceptional Response in Vemurafenib ± Cobimetinib-treated Patients with BRAF V600-mutated Metastatic Melanoma. PMID:30824584
MMSplice: modular modeling improves the predictions of genetic variant effects on splicing. PMID:30823901
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. PMID:30820047
Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics. PMID:30809243
A QIL1 Variant Associated with Ventricular Arrhythmias and Sudden Cardiac Death in the Juvenile Rhodesian Ridgeback Dog. PMID:30795627
SEQprocess: a modularized and customizable pipeline framework for NGS processing in R package. PMID:30786880
Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel. PMID:30777372
Tailored NEOadjuvant epirubicin, cyclophosphamide and Nanoparticle Albumin-Bound paclitaxel for breast cancer: The phase II NEONAB trial-Clinical outcomes and molecular determinants of response. PMID:30763338
Establishment, molecular and biological characterization of HCB-514: a novel human cervical cancer cell line. PMID:30760827
Convergent perturbation of the human domain-resolved interactome by viruses and mutations inducing similar disease phenotypes. PMID:30759076
Streamlined computational pipeline for genetic background characterization of genetically engineered mice based on next generation sequencing data. PMID:30755158
Insight into the genetic architecture of back pain and its risk factors from a study of 509,000 individuals. PMID:30747904
Identification of novel genome-wide associations for suicidality in UK Biobank, genetic correlation with psychiatric disorders and polygenic association with completed suicide. PMID:30745170
How good are pathogenicity predictors in detecting benign variants? PMID:30742610
Most canine ameloblastomas harbor HRAS mutations, providing a novel large-animal model of RAS-driven cancer. PMID:30741938
Bidirectional Selection for Body Weight on Standing Genetic Variation in a Chicken Model. PMID:30737239
Identification of 12 genetic loci associated with human healthspan. PMID:30729179
Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes. PMID:30718883
The genomics of major psychiatric disorders in a large pedigree from Northern Sweden. PMID:30718465
A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death. PMID:30715562
A Murine Model of Chronic Lymphocytic Leukemia Based on B Cell-Restricted Expression of Sf3b1 Mutation and Atm Deletion. PMID:30712845
How genomics can be used to understand host susceptibility to enteric infection, aiding in the development of vaccines and immunotherapeutic interventions. PMID:30709726
GenESysV: a fast, intuitive and scalable genome exploration open source tool for variants generated from high-throughput sequencing projects. PMID:30704396
Clonal dynamics monitoring during clinical evolution in chronic lymphocytic leukaemia. PMID:30700761
Dissecting closely linked association signals in combination with the mammalian phenotype database can identify candidate genes in dairy cattle. PMID:30696404
CLOCK Polymorphisms in Attention-Deficit/Hyperactivity Disorder (ADHD): Further Evidence Linking Sleep and Circadian Disturbances and ADHD. PMID:30696097
Linked Mutations at Adjacent Nucleotides Have Shaped Human Population Differentiation and Protein Evolution. PMID:30689878
Exome Resequencing Reveals Evolutionary History, Genomic Diversity, and Targets of Selection in the Conifers Pinus taeda and Pinus elliottii. PMID:30689841
Multiple QTL underlie milk phenotypes at the CSF2RB locus. PMID:30678637
Genetics and Genomic Regions Affecting Response to Newcastle Disease Virus Infection under Heat Stress in Layer Chickens. PMID:30669351
A nonhuman primate model of inherited retinal disease. PMID:30667376
Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma. PMID:30664638
Shared Molecular Targets Confer Resistance over Short and Long Evolutionary Timescales. PMID:30657986
LFMM 2: Fast and Accurate Inference of Gene-Environment Associations in Genome-Wide Studies. PMID:30657943
Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma. PMID:30657791
MYORG is associated with recessive primary familial brain calcification. PMID:30656188
Improved indel detection in DNA and RNA via realignment with ABRA2. PMID:30649250
Sliding window haplotype approaches overcome single SNP analysis limitations in identifying genes for meat tenderness in Nelore cattle. PMID:30642245
Deleterious alleles in the context of domestication, inbreeding, and selection. PMID:30622631
High genomic diversity and candidate genes under selection associated with range expansion in eastern coyote (Canis latrans) populations. PMID:30619570
Admixture Effects on Coevolved Metabolic Systems. PMID:30619461
Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population. PMID:30619065
A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis. PMID:30612247
Leveraging Polygenic Functional Enrichment to Improve GWAS Power. PMID:30595370
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis. PMID:30591557
Pathogenicity and selective constraint on variation near splice sites. PMID:30587507
Phenotypic Refinement of Heart Failure in a National Biobank Facilitates Genetic Discovery. PMID:30586722
Association of Copy Number Variation at Intron 3 of HMGA2 With Navel Length in Bos indicus. PMID:30581455
Ensembl variation resources. PMID:30576484
Sequence variation, evolutionary constraint, and selection at the CD163 gene in pigs. PMID:30572815
Human papillomavirus and the landscape of secondary genetic alterations in oral cancers. PMID:30563911
Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma. PMID:30561643
Seave: a comprehensive web platform for storing and interrogating human genomic variation. PMID:30561546
Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection. PMID:30556619
Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India. PMID:30555256
Use of Germline Genetic Variability for Prediction of Chemoresistance and Prognosis of Breast Cancer Patients. PMID:30545124
Identification of deleterious and regulatory genomic variations in known asthma loci. PMID:30541564
Hypermutagenesis in untreated adult gliomas due to inherited mismatch mutations. PMID:30536544
Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation. PMID:30535219
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. PMID:30531953
A map of constrained coding regions in the human genome. PMID:30531870
Widespread cis-regulation of RNA editing in a large mammal. PMID:30530731
Frontotemporal dementia spectrum: first genetic screen in a Greek cohort. PMID:30528349
Genomic landscape of oxidative DNA damage and repair reveals regioselective protection from mutagenesis. PMID:30526646
Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report. PMID:30526509
Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds. PMID:30521570
A common pathomechanism in GMAP-210- and LBR-related diseases. PMID:30518689
A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions. PMID:30503770
A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease. PMID:30503768
The Genetic Landscape of Diamond-Blackfan Anemia. PMID:30503522
OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data. PMID:30503520
Spontaneous Spongiform Brainstem Degeneration in a Young Mouse Lemur (Microcebus murinus) with Conspicuous Behavioral, Motor, Growth, and Ocular Pathologies. PMID:30486920
Downstream TRPM4 Polymorphisms Are Associated with Intracranial Hypertension and Statistically Interact with ABCC8 Polymorphisms in a Prospective Cohort of Severe Traumatic Brain Injury. PMID:30484364
Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine. PMID:30482208
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. PMID:30478444
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity. PMID:30475984
Molecular insights into genome-wide association studies of chronic kidney disease-defining traits. PMID:30467309
A Meta-Analysis Including Pre-selected Sequence Variants Associated With Seven Traits in Three French Dairy Cattle Populations. PMID:30459810
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population. PMID:30459467
Mutation of a serine near the catalytic site of the choline acetyltransferase a gene almost completely abolishes motility of the zebrafish embryo. PMID:30458023
Growth factor gene IGF1 is associated with bill size in the black-bellied seedcracker Pyrenestes ostrinus. PMID:30451848
Genetic analysis of isoform usage in the human anti-viral response reveals influenza-specific regulation of ERAP2 transcripts under balancing selection. PMID:30446528
The European Bioinformatics Institute in 2018: tools, infrastructure and training. PMID:30445657
Identification of genetic variants associated with tacrolimus metabolism in kidney transplant recipients by extreme phenotype sampling and next generation sequencing. PMID:30442921
Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records. PMID:30420678
An Interrogation of Shared and Unique Copy Number Variants Across Genetically Distinct Zebrafish Strains. PMID:30418105
Quantifying the contribution of recessive coding variation to developmental disorders. PMID:30409806
Hybridisation-based target enrichment of phenology genes to dissect the genetic basis of yield and adaptation in barley. PMID:30407713
Cancer3D 2.0: interactive analysis of 3D patterns of cancer mutations in cancer subsets. PMID:30407596
PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs. PMID:30407536
Ensembl 2019. PMID:30407521
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits. PMID:30405126
BioInstaller: a comprehensive R package to construct interactive and reproducible biological data analysis applications based on the R platform. PMID:30402350
Radiotherapy induces responses of lung cancer to CTLA-4 blockade. PMID:30397353
The Impact of Next-Generation Sequencing on Cancer Genomics: From Discovery to Clinic. PMID:30397020
Type 2 diabetes increases oocyte mtDNA mutations which are eliminated in the offspring by bottleneck effect. PMID:30390692
Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome. PMID:30377230
Non-invasive genotyping with a massively parallel sequencing panel for the detection of SNPs in HPA-axis genes. PMID:30374157
iDog: an integrated resource for domestic dogs and wild canids. PMID:30371881
CADD: predicting the deleteriousness of variants throughout the human genome. PMID:30371827
Population data improves variant interpretation in autosomal dominant polycystic kidney disease. PMID:30369598
Artificial Intelligence Approach for Variant Reporting. PMID:30364844
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. PMID:30361506
Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer. PMID:30348992
Identification of mutations in SLC4A1, GP1BA and HFE in a family with venous thrombosis of unknown cause by next-generation sequencing. PMID:30344693
Characterization of Nigerian breast cancer reveals prevalent homologous recombination deficiency and aggressive molecular features. PMID:30327465
ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls. PMID:30325923
Identification of Lynch syndrome risk variants in the Romanian population. PMID:30324682
Mutations in PERP Cause Dominant and Recessive Keratoderma. PMID:30321533
The Genomic Basis of Tumor Regression in Tasmanian Devils (Sarcophilus harrisii). PMID:30321343
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree. PMID:30315151
Predicting variant deleteriousness in non-human species: applying the CADD approach in mouse. PMID:30314430
Pan-tumor genomic biomarkers for PD-1 checkpoint blockade-based immunotherapy. PMID:30309915
Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H. PMID:30309378
Framework for microRNA variant annotation and prioritization using human population and disease datasets. PMID:30302893
Haplosaurus computes protein haplotypes for use in precision drug design. PMID:30297836
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies. PMID:30293990
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. PMID:30279455
A rare missense variant in NR1H4 associates with lower cholesterol levels. PMID:30271901
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia. PMID:30270359
Epidermal Tissue Adapts to Restrain Progenitors Carrying Clonal p53 Mutations. PMID:30269904
Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data. PMID:30269813
Genome-Informed Targeted Therapy for Osteosarcoma. PMID:30266815
Impact of structural prior knowledge in SNV prediction: Towards causal variant finding in rare disease. PMID:30265692
Genome-wide association study and prediction of genomic breeding values for fatty-acid composition in Korean Hanwoo cattle using a high-density single-nucleotide polymorphism array. PMID:30265318
A weighted burden test using logistic regression for integrated analysis of sequence variants, copy number variants and polygenic risk score. PMID:30258123
Microenvironmental niche divergence shapes BRCA1-dysregulated ovarian cancer morphological plasticity. PMID:30254278
Exome sequencing study of 20 patients with high myopia. PMID:30245926
Functional Genetic Variants Revealed by Massively Parallel Precise Genome Editing. PMID:30245013
Hierarchical Organization Endows the Kinase Domain with Regulatory Plasticity. PMID:30243563
ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci. PMID:30239796
A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs. PMID:30235266
Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome. PMID:30231021
Variation in abundance of predicted resistance genes in the Brassica oleracea pangenome. PMID:30230187
Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas. PMID:30217226
Screening the full leucocyte receptor complex genomic region revealed associations with pemphigus that might be explained by gene regulation. PMID:30216441
AWESOME: a database of SNPs that affect protein post-translational modifications. PMID:30215764
ARIADNA: machine learning method for ancient DNA variant discovery. PMID:30215675
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. PMID:30208423
Turning Vice into Virtue: Using Batch-Effects to Detect Errors in Large Genomic Data Sets. PMID:30204860
Different patterns of clonal evolution among different sarcoma subtypes followed for up to 25 years. PMID:30201954
Prioritizing candidate genes post-GWAS using multiple sources of data for mastitis resistance in dairy cattle. PMID:30189836
A machine learning approach for somatic mutation discovery. PMID:30185652
Meta-analysis of exome array data identifies six novel genetic loci for lung function. PMID:30175238
A Comprehensive Map of Genetic Variation in the World's Largest Ethnic Group-Han Chinese. PMID:30169787
Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease. PMID:30167848
Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. PMID:30166351
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome. PMID:30165906
A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours. PMID:30157243
The germline genetic component of drug sensitivity in cancer cell lines. PMID:30139972
hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update. PMID:30129167
Molecular analysis of gastric cancer identifies genomic markers of drug sensitivity in Asian gastric cancer. PMID:30123366
Mapping adult plant stem rust resistance in barley accessions Hietpas-5 and GAW-79. PMID:30109391
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. PMID:30109124
Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma. PMID:30107175
Identification of induced mutations in hexaploid wheat genome using exome capture assay. PMID:30102729
CharGer: clinical Characterization of Germline variants. PMID:30102335
A novel deep targeted sequencing method for minimal residual disease monitoring in acute myeloid leukemia. PMID:30093399
ASXL2 regulates hematopoiesis in mice and its deficiency promotes myeloid expansion. PMID:30093396
Realizing the significance of noncoding functionality in clinical genomics. PMID:30089779
Resistance to the Plant Defensin NaD1 Features Modifications to the Cell Wall and Osmo-Regulation Pathways of Yeast. PMID:30087664
Natural Genetic Variation in a Multigenerational Phenotype in C. elegans. PMID:30078564
Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function. PMID:30061609
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility. PMID:30042735
Salt-sensitive (Rapp) rats from Envigo spontaneously develop accelerated hypertension independent of ovariectomy on a low-sodium diet. PMID:30024774
Genetics of trans-regulatory variation in gene expression. PMID:30014850
CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence? PMID:30014597
Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis. PMID:30013184
Exome Chip Analysis Identifies Low-Frequency and Rare Variants in MRPL38 for White Matter Hyperintensities on Brain Magnetic Resonance Imaging. PMID:30002152
Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy Implicates Pharmacokinetic and Inherited Neuropathy Genes. PMID:29999516
The association of genomic lesions and PD-1/PD-L1 expression in resected triple-negative breast cancers. PMID:29996881
Analytical "bake-off" of whole genome sequencing quality for the Genome Russia project using a small cohort for autoimmune hepatitis. PMID:29995946
Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability. PMID:29991773
Functional Partitioning of Genomic Variance and Genome-Wide Association Study for Carcass Traits in Korean Hanwoo Cattle Using Imputed Sequence Level SNP Data. PMID:29988410
Loose ends: almost one in five human genes still have unresolved coding status. PMID:29982784
A characterization of postzygotic mutations identified in monozygotic twins. PMID:29980163
Next-generation sequencing profiling of mitochondrial genomes in gout. PMID:29976239
Genome variants associated with RNA splicing variations in bovine are extensively shared between tissues. PMID:29973141
Genome-wide association study of nocturnal blood pressure dipping in hypertensive patients. PMID:29973135
Mutational Analysis Identifies Therapeutic Biomarkers in Inflammatory Bowel Disease-Associated Colorectal Cancers. PMID:29950348
Comparison of village dog and wolf genomes highlights the role of the neural crest in dog domestication. PMID:29950181
Analyses of the genetic diversity and protein expression variation of the acyl: CoA medium-chain ligases, ACSM2A and ACSM2B. PMID:29948332
A Missense Mutation in the Vacuolar Protein Sorting 11 (VPS11) Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs. PMID:29945969
Experimental evidence for rapid genomic adaptation to a new niche in an adaptive radiation. PMID:29942074
Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract. PMID:29934635
A Novel Loss-of-Function Variant in Transmembrane Protein 263 (TMEM263) of Autosomal Dwarfism in Chicken. PMID:29930570
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. PMID:29909963
Cancer-mutation network and the number and specificity of driver mutations. PMID:29895694
Systematic Mendelian randomization framework elucidates hundreds of CpG sites which may mediate the influence of genetic variants on disease. PMID:29893838
Multi-ethnic genome-wide association study for atrial fibrillation. PMID:29892015
Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants. PMID:29884787
Germline mutation of CHEK2 in neurofibromatosis 1 and 2: Two case reports. PMID:29879026
Clinical activity and molecular correlates of response to atezolizumab alone or in combination with bevacizumab versus sunitinib in renal cell carcinoma. PMID:29867230
Genetic Modifiers of the Breast Tumor Microenvironment. PMID:29860987
VarAFT: a variant annotation and filtration system for human next generation sequencing data. PMID:29860484
Genetic study of multimodal imaging Alzheimer's disease progression score implicates novel loci. PMID:29860282
Patient Similarity Networks for Precision Medicine. PMID:29860027
Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency. PMID:29859120
Identification and annotation of breed-specific single nucleotide polymorphisms in Bos taurus genomes. PMID:29856873
Negative selection in tumor genome evolution acts on essential cellular functions and the immunopeptidome. PMID:29855388
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. PMID:29805042
Demographic History and Genetic Adaptation in the Himalayan Region Inferred from Genome-Wide SNP Genotypes of 49 Populations. PMID:29796643
Genomic Variation Among and Within Six Juglans Species. PMID:29792315
Measuring coverage and accuracy of whole-exome sequencing in clinical context. PMID:29789557
GWAS4D: multidimensional analysis of context-specific regulatory variant for human complex diseases and traits. PMID:29771388
VAReporter: variant reporter for cancer research of massive parallel sequencing. PMID:29764369
SNPnexus: assessing the functional relevance of genetic variation to facilitate the promise of precision medicine. PMID:29757393
Computational Protein Phenotype Characterization of IL10RA Mutations Causative to Early Onset Inflammatory Bowel Disease (IBD). PMID:29755507
Dissecting closely linked association signals in combination with the mammalian phenotype database can identify candidate genes in dairy cattle. PMID:29751743
Genome-wide and high-density CRISPR-Cas9 screens identify point mutations in PARP1 causing PARP inhibitor resistance. PMID:29748565
Burly1 is a mouse QTL for lean body mass that maps to a 0.8-Mb region of chromosome 2. PMID:29737391
Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform. PMID:29737008
Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection. PMID:29725052
Human local adaptation of the TRPM8 cold receptor along a latitudinal cline. PMID:29723195
Multi-omics profiling of younger Asian breast cancers reveals distinctive molecular signatures. PMID:29713003
Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana. PMID:29706352
Whole exome sequencing reveals rare variants linked to congenital pouch colon. PMID:29703930
Predicting gene structure changes resulting from genetic variants via exon definition features. PMID:29701825
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. PMID:29691392
Integrative Bioinformatics Approaches for Identification of Drug Targets in Hypertension. PMID:29670885
Identification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group loci. PMID:29662110
Genotyping of Plasmodiophora brassicae reveals the presence of distinct populations. PMID:29661147
A survey of functional genomic variation in domesticated chickens. PMID:29661130
Population-level distribution and putative immunogenicity of cancer neoepitopes. PMID:29653567
The Immune Landscape of Cancer. PMID:29628290
Pathogenic Germline Variants in 10,389 Adult Cancers. PMID:29625052
From SNPs to pathways: Biological interpretation of type 2 diabetes (T2DM) genome wide association study (GWAS) results. PMID:29617380
Finding cancer driver mutations in the era of big data research. PMID:29611034
PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger. PMID:29606303
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response. PMID:29604063
Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines. PMID:29596782
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. PMID:29590070
Genetic variants in mRNA untranslated regions. PMID:29582564
Methotrexate sensitizes drug-resistant metastatic melanoma cells to BRAF V600E inhibitors dabrafenib and encorafenib. PMID:29568360
Weighted Burden Analysis of Exome-Sequenced Case-Control Sample Implicates Synaptic Genes in Schizophrenia Aetiology. PMID:29564678
The subclonal complexity of STIL-TAL1+ T-cell acute lymphoblastic leukaemia. PMID:29556024
Development of a highly sensitive liquid biopsy platform to detect clinically-relevant cancer mutations at low allele fractions in cell-free DNA. PMID:29547634
Rare variants in drug target genes contributing to complex diseases, phenome-wide. PMID:29545597
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. PMID:29543232
A Flow Cytometry-Based Phenotypic Screen To Identify Novel Endocytic Factors in Saccharomyces cerevisiae. PMID:29540444
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion. PMID:29539190
Translocon Declogger Ste24 Protects against IAPP Oligomer-Induced Proteotoxicity. PMID:29526462
Convergent genomic signatures of domestication in sheep and goats. PMID:29511174
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. PMID:29500241
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. PMID:29499165
In Vivo E2F Reporting Reveals Efficacious Schedules of MEK1/2-CDK4/6 Targeting and mTOR-S6 Resistance Mechanisms. PMID:29496664
Mutations in DNA repair genes are associated with increased neo-antigen load and activated T cell infiltration in lung adenocarcinoma. PMID:29487705
Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. PMID:29486463
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. PMID:29477724
Somatic mutagenesis in satellite cells associates with human skeletal muscle aging. PMID:29476074
Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser. PMID:29473246
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay. PMID:29472286
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. PMID:29463886
Mendelian Disease Associations Reveal Novel Insights into Inflammatory Bowel Disease. PMID:29462399
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. PMID:29449551
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity. PMID:29449315
Risk category system to identify pituitary adenoma patients with AIP mutations. PMID:29440248
A phenotype centric benchmark of variant prioritisation tools. PMID:29423277
Estimating the mutational load for cardiovascular diseases in Pakistani population. PMID:29420653
Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale. PMID:29409527
Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn's disease. PMID:29408806
Paediatric genomics: diagnosing rare disease in children. PMID:29398702
Unravelling genetic variation underlying de novo-synthesis of bovine milk fatty acids. PMID:29391528
Genome-wide analysis of self-reported risk-taking behaviour and cross-disorder genetic correlations in the UK Biobank cohort. PMID:29391395
Genomic Region Containing Toll-Like Receptor Genes Has a Major Impact on Total IgM Antibodies Including KLH-Binding IgM Natural Antibodies in Chickens. PMID:29375555
Genomic diversity and population structure of three autochthonous Greek sheep breeds assessed with genome-wide DNA arrays. PMID:29372305
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation. PMID:29369293
Pleiotropic alterations in gene expression in Latin American Fasciola hepatica isolates with different susceptibility to drugs. PMID:29368659
Population genetic diversity in zebrafish lines. PMID:29368091
Molecular-genetic profiling and high-throughput in vitro drug screening in NUT midline carcinoma-an aggressive and fatal disease. PMID:29348827
Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data. PMID:29334895
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. PMID:29323667
Targeting immune checkpoints potentiates immunoediting and changes the dynamics of tumor evolution. PMID:29296022
Genome variation and conserved regulation identify genomic regions responsible for strain specific phenotypes in rat. PMID:29272997
Personal Cancer Genome Reporter: variant interpretation report for precision oncology. PMID:29272339
CDKL5 variants: Improving our understanding of a rare neurologic disorder. PMID:29264392
Mosaic mutations in blood DNA sequence are associated with solid tumor cancers. PMID:29263833
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. PMID:29257133
Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework. PMID:29254494
A comprehensive genomic meta-analysis identifies confirmatory role of OBSCN gene in breast tumorigenesis. PMID:29254242
Informatics for cancer immunotherapy. PMID:29253114
DNA and RNA-sequence based GWAS highlights membrane-transport genes as key modulators of milk lactose content. PMID:29246110
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. PMID:29243736
Deciphering the genetic regulation of peripheral blood transcriptome in pigs through expression genome-wide association study and allele-specific expression analysis. PMID:29237423
A missense point mutation in COL10A1 identified with whole-genome deep sequencing in a 7-generation Pakistan dwarf family. PMID:29234170
Trauma exposure interacts with the genetic risk of bipolar disorder in alcohol misuse of US soldiers. PMID:29230810
Houston Methodist Variant Viewer: An Application to Support Clinical Laboratory Interpretation of Next-generation Sequencing Data for Cancer. PMID:29226007
Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients. PMID:29216901
A PLAG1 mutation contributed to stature recovery in modern cattle. PMID:29215042
The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population. PMID:29213121
Autosomal and Mitochondrial Adaptation Following Admixture: A Case Study on the Honeybees of Reunion Island. PMID:29202174
An Unexpectedly Complex Architecture for Skin Pigmentation in Africans. PMID:29195075
Adiposity QTL Adip20 decomposes into at least four loci when dissected using congenic strains. PMID:29194435
Comparative genomics reveals that loss of lunatic fringe (LFNG) promotes melanoma metastasis. PMID:29193607
Histamine H2 Receptor Polymorphisms, Myocardial Transcripts, and Heart Failure (from the Multi-Ethnic Study of Atherosclerosis and Beta-Blocker Effect on Remodeling and Gene Expression Trial). PMID:29191567
Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. PMID:29186694
Functional mapping and annotation of genetic associations with FUMA. PMID:29184056
Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease. PMID:29181857
Rare non-coding variants are associated with plasma lipid traits in a founder population. PMID:29180722
Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. PMID:29179779
Genome-wide association studies of fertility and calving traits in Brown Swiss cattle using imputed whole-genome sequences. PMID:29178833
The Diversity of REcent and Ancient huMan (DREAM): A New Microarray for Genetic Anthropology and Genealogy, Forensics, and Personalized Medicine. PMID:29165562
Ensembl 2018. PMID:29155950
Identification of Pleiotropic Cancer Susceptibility Variants from Genome-Wide Association Studies Reveals Functional Characteristics. PMID:29150481
Spontaneous development of Epstein-Barr Virus associated human lymphomas in a prostate cancer xenograft program. PMID:29145505
Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus. PMID:29142228
Identification of unique neoantigen qualities in long-term survivors of pancreatic cancer. PMID:29132146
Fitness Costs and Variation in Transmission Distortion Associated with the Abnormal Chromosome 10 Meiotic Drive System in Maize. PMID:29122827
Meta-analysis of sequence-based association studies across three cattle breeds reveals 25 QTL for fat and protein percentages in milk at nucleotide resolution. PMID:29121857
VarCards: an integrated genetic and clinical database for coding variants in the human genome. PMID:29112736
Reduced mutation rate in exons due to differential mismatch repair. PMID:29106418
Full-gene haplotypes refine CYP2D6 metabolizer phenotype inferences. PMID:29075918
Genome Variation Map: a data repository of genome variations in BIG Data Center. PMID:29069473
A Review of Recent Advances in Translational Bioinformatics: Bridges from Biology to Medicine. PMID:29063562
Genome-wide association study identifies the SERPINB gene cluster as a susceptibility locus for food allergy. PMID:29051540
Clonal Heterogeneity Influences the Fate of New Adaptive Mutations. PMID:29045840
Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease. PMID:29045054
Exploiting whole genome sequence data to fine map and characterize candidate genes within a quantitative trait loci region affecting androstenone on porcine chromosome 5. PMID:29034488
The impact of rare variation on gene expression across tissues. PMID:29022581
Fine mapping of a QTL affecting levels of skatole on pig chromosome 7. PMID:29020941
Signatures of Selection and Interspecies Introgression in the Genome of Chinese Domestic Pigs. PMID:29016799
Mendelian Randomization Analysis Identifies CpG Sites as Putative Mediators for Genetic Influences on Cardiovascular Disease Risk. PMID:28985495
The Contribution of Neanderthals to Phenotypic Variation in Modern Humans. PMID:28985494
Genome-wide mapping of large deletions and their population-genetic properties in dairy cattle. PMID:28985340
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle. PMID:28982372
Resources for Interpreting Variants in Precision Genomic Oncology Applications. PMID:28975082
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. PMID:28972005
FATHMM-XF: accurate prediction of pathogenic point mutations via extended features. PMID:28968714
VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions. PMID:28967166
Within-breed and multi-breed GWAS on imputed whole-genome sequence variants reveal candidate mutations affecting milk protein composition in dairy cattle. PMID:28923017
CScape: a tool for predicting oncogenic single-point mutations in the cancer genome. PMID:28912487
Neuregulin signaling pathway in smoking behavior. PMID:28892072
FUT2 non-secretor status is associated with altered susceptibility to symptomatic enterotoxigenic Escherichia coli infection in Bangladeshis. PMID:28878367
Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis. PMID:28869591
Genome-wide comparative analyses of correlated and uncorrelated phenotypes identify major pleiotropic variants in dairy cattle. PMID:28835686
Genetic Screen for Postembryonic Development in the Zebrafish (Danio rerio): Dominant Mutations Affecting Adult Form. PMID:28835471
Integrated Genomic Characterization of Pancreatic Ductal Adenocarcinoma. PMID:28810144
Loss of the chromatin modifier Kdm2aa causes BrafV600E-independent spontaneous melanoma in zebrafish. PMID:28806732
Settling the score: variant prioritization and Mendelian disease. PMID:28804138
Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics. PMID:28797091
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. PMID:28777931
Exploring public genomics data for population pharmacogenomics. PMID:28771511
Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines. PMID:28716134
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. PMID:28714225
Gramene Database: Navigating Plant Comparative Genomics Resources. PMID:28713666
Interferon-related genetic markers of necroinflammatory activity in chronic hepatitis C. PMID:28704535
Platelet function is modified by common sequence variation in megakaryocyte super enhancers. PMID:28703137
Quantifying the Impact of Non-coding Variants on Transcription Factor-DNA Binding. PMID:28691125
The detection of a novel insertion mutation in exon 2 of the MEFV gene associated with familial mediterranean fever in a moroccan family. PMID:28690860
A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases. PMID:28669401
Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia. PMID:28667000
Signatures of Selection for Environmental Adaptation and Zebu × Taurine Hybrid Fitness in East African Shorthorn Zebu. PMID:28642786
Systematic design and comparison of expanded carrier screening panels. PMID:28640244
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding. PMID:28637664
Prediction and analysis of three gene families related to leaf rust (Puccinia triticina) resistance in wheat (Triticum aestivum L.). PMID:28633642
TIminer: NGS data mining pipeline for cancer immunology and immunotherapy. PMID:28633385
Reduction in Migratory Phenotype in a Metastasized Breast Cancer Cell Line via Downregulation of S100A4 and GRM3. PMID:28615627
Pan-cancer analysis reveals technical artifacts in TCGA germline variant calls. PMID:28606096
GenomeHubs: simple containerized setup of a custom Ensembl database and web server for any species. PMID:28605774
Genetics of Genome-Wide Recombination Rate Evolution in Mice from an Isolated Island. PMID:28576862
Hierarchical probabilistic models for multiple gene/variant associations based on next-generation sequencing data. PMID:28575251
Genome annotation for clinical genomic diagnostics: strengths and weaknesses. PMID:28558813
PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics. PMID:28552549
Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy. PMID:28537274
Resistance to malaria through structural variation of red blood cell invasion receptors. PMID:28522690
VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data. PMID:28520890
Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics. PMID:28511696
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge. PMID:28497567
Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer. PMID:28487881
Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites. PMID:28475858
A comparative analysis of whole genome sequencing of esophageal adenocarcinoma pre- and post-chemotherapy. PMID:28465312
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization. PMID:28454514
VEXOR: an integrative environment for prioritization of functional variants in fine-mapping analysis. PMID:28453673
SMRT genome assembly corrects reference errors, resolving the genetic basis of virulence in Mycobacterium tuberculosis. PMID:28415976
Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel. PMID:28401899
Cancer Immunogenomics: Computational Neoantigen Identification and Vaccine Design. PMID:28389595
Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder. PMID:28388406
A post-GWAS analysis of predicted regulatory variants and tuberculosis susceptibility. PMID:28384278
Functional implications of Neandertal introgression in modern humans. PMID:28366169
Characterization of BRCA1/2 mutations in patients with family history of breast cancer in Armenia. PMID:28357044
Enhancing knowledge discovery from cancer genomics data with Galaxy. PMID:28327945
Organic Cation Transporter 2 (OCT2/SLC22A2) Gene Variation in the South African Bantu-Speaking Population and Functional Promoter Variants. PMID:28253084
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. PMID:28251733
One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. PMID:28235832
Big Data Analytics for Genomic Medicine. PMID:28212287
BCFtools/csq: haplotype-aware variant consequences. PMID:28205675
Variant discovery in the sheep milk transcriptome using RNA sequencing. PMID:28202015
Genotoxic Effects of Culture Media on Human Pluripotent Stem Cells. PMID:28176872
Genomic analysis and clinical management of adolescent cutaneous melanoma. PMID:28097802
Uncovering hidden variation in polyploid wheat. PMID:28096351
Genomics pipelines and data integration: challenges and opportunities in the research setting. PMID:28092471
High-throughput interpretation of gene structure changes in human and nonhuman resequencing data, using ACE. PMID:28011790
easyGWAS: A Cloud-Based Platform for Comparing the Results of Genome-Wide Association Studies. PMID:27986896
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants. PMID:27924018
Open Targets: a platform for therapeutic target identification and validation. PMID:27899665
The ExAC browser: displaying reference data information from over 60 000 exomes. PMID:27899611
Ensembl 2017. PMID:27899575
WormBase ParaSite - a comprehensive resource for helminth genomics. PMID:27899279
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. PMID:27863252
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects. PMID:27796292
The cancer precision medicine knowledge base for structured clinical-grade mutations and interpretations. PMID:27789569
The state of play in higher eukaryote gene annotation. PMID:27773922
Mitochondrial heteroplasmy in vertebrates using ChIP-sequencing data. PMID:27349964

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deoxyribonucleic acid
metasource: Fairsharing.org
version: FAIRsharing.org: VEP; Variant Effect Predictor data format; DOI: https://doi.org/10.25504/FAIRsharing.qz0rvm; Last edited: Jan. 8, 2019, 1:29 p.m.; Last accessed: Jan 03 2022 7:12 p.m.

genetic polymorphism
metasource: Fairsharing.org
version: FAIRsharing.org: VEP; Variant Effect Predictor data format; DOI: https://doi.org/10.25504/FAIRsharing.qz0rvm; Last edited: Jan. 8, 2019, 1:29 p.m.; Last accessed: Jan 03 2022 7:12 p.m.

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