GTEx
Genotype-Tissue Expression (GTEx) - database which helps to study the relationship between genetic variation and gene expression in human tissues.
Description
More detailed information about this field from each metasource.
Genotype-Tissue Expression (GTEx) - database which helps to study the relationship between genetic variation and gene expression in human tissues.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.636780
Webpage:
https://www.gtexportal.org/home/Webpage
More detailed information about this field from each metasource.
https://www.gtexportal.org/home/
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.636780
Publications:
Publications
More detailed information about this field from each metasource.
The Genotype-Tissue Expression (GTEx) project
PMID: 23715323
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.636780
Publications
More detailed information about this field from each metasource.
The Genotype-Tissue Expression (GTEx) project
PMID: 23715323
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.636780
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The Genotype-Tissue Expression (GTEx) project
PubMed citations: 2395.
2395 articles citing: The Genotype-Tissue Expression (GTEx) project
A Pilot Study of Blood-Based Methylation Markers Associated With Pancreatic Cancer. PMID:35360846
Photonic technologies for liquid biopsies: recent advances and open research challenges. PMID:35360260
A Pan-Cancer Bioinformatic Analysis of RAD51 Regarding the Values for Diagnosis, Prognosis, and Therapeutic Prediction. PMID:35359409
Identification of CD101 in Glioma: A Novel Prognostic Indicator Expressed on M2 Macrophages. PMID:35350788
Genomic diversity and post-admixture adaptation in the Uyghurs. PMID:35350227
COVID-19: impact on Public Health and hypothesis-driven investigations on genetic susceptibility and severity. PMID:35348847
Admixture Mapping of Sepsis in European Individuals With African Ancestries. PMID:35345767
Health influenced by genetics: A first comprehensive analysis of breast cancer high and moderate penetrance susceptibility genes in the Tunisian population. PMID:35333900
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome. PMID:35330423
LPPR5 Expression in Glioma Affects Growth, Vascular Architecture, and Sunitinib Resistance. PMID:35328529
Incorporating regulatory interactions into gene-set analyses for GWAS data: A controlled analysis with the MAGMA tool. PMID:35316269
Genetic alteration of human MYH6 is mimicked by SARS-CoV-2 polyprotein: mapping viral variants of cardiac interest. PMID:35314694
Interactive Analysis, Exploration, and Visualization of RNA-Seq Data with SeqCVIBE. PMID:35314664
Overexpression of CISD1 Predicts Worse Survival in Hepatocarcinoma Patients. PMID:35313629
A light-gated transcriptional recorder for detecting cell-cell contacts. PMID:35311648
A Gene Panel for Early Identification of Future Responders to Immune Checkpoint Blockade. PMID:35309122
Near-roadway air pollution, immune cells and adipokines among obese young adults. PMID:35305663
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders. PMID:35304488
Phenotypic and genetic analysis of a wellbeing factor score in the UK Biobank and the impact of childhood maltreatment and psychiatric illness. PMID:35304435
Maintenance of mitochondrial integrity in midbrain dopaminergic neurons governed by a conserved developmental transcription factor. PMID:35301315
Integrated Analysis of miRNA and mRNA Expression Profiles Reveals the Molecular Mechanism of Posttraumatic Stress Disorder and Therapeutic Drugs. PMID:35300145
Profiling of diverse tumor types establishes the broad utility of VHL-based ProTaCs and triages candidate ubiquitin ligases. PMID:35295813
Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication. PMID:35291294
The arginine methyltransferase PRMT7 promotes extravasation of monocytes resulting in tissue injury in COPD. PMID:35288557
Kynurenic Acid Acts as a Signaling Molecule Regulating Energy Expenditure and Is Closely Associated With Metabolic Diseases. PMID:35282457
Derivation, Comprehensive Analysis, and Assay Validation of a Pyroptosis-Related lncRNA Prognostic Signature in Patients With Ovarian Cancer. PMID:35280739
Herpesviruses and their genetic diversity in the blood virome of healthy individuals: effect of aging. PMID:35279192
Effects of Dietary Fat to Carbohydrate Ratio on Obesity Risk Depending on Genotypes of Circadian Genes. PMID:35276838
Systematic understanding of anti-tumor mechanisms of Tamarixetin through network and experimental analyses. PMID:35273218
Production and Stabilization of Specific Upregulated Long Noncoding RNA HOXD-AS2 in Glioblastomas Are Mediated by TFE3 and miR-661, Respectively. PMID:35269968
An enhancer variant at 16q22.1 predisposes to hepatocellular carcinoma via regulating PRMT7 expression. PMID:35264579
The Role of GJD2(Cx36) in Refractive Error Development. PMID:35262731
Identification of Scd5 as a functional regulator of visceral fat deposition and distribution. PMID:35252813
HHLA2 Used as a Potential Prognostic and Immunological Biomarker and Correlated with Tumor Microenvironment in Pan-Cancer. PMID:35252444
Landscape of adenosine-to-inosine RNA recoding across human tissues. PMID:35246538
Dynamic Control Balancing Cell Proliferation and Inflammation is Crucial for an Effective Immune Response to Malaria. PMID:35242812
Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis. PMID:35234271
Local genetic variation of inflammatory bowel disease in Basque population and its effect in risk prediction. PMID:35232999
Eukaryotic translation initiation factor 4E binding protein 1 (EIF4EBP1) expression in glioblastoma is driven by ETS1- and MYBL2-dependent transcriptional activation. PMID:35228525
Identification of key genes associated with polycystic ovary syndrome (PCOS) and ovarian cancer using an integrated bioinformatics analysis. PMID:35227296
Can Machine Learning Models Predict Asparaginase-associated Pancreatitis in Childhood Acute Lymphoblastic Leukemia. PMID:35226426
Genome-Wide Association Analysis and Genomic Prediction of Thyroglobulin Plasma Levels. PMID:35216288
Pan-Cancer Transcriptomic Analysis Identifies PLK1 Crucial for the Tumorigenesis of Clear Cell Renal Cell Carcinoma. PMID:35210814
Identification of Tissue-Specific Gene Clusters Induced by DNA Demethylation in Lung Adenocarcinoma: More Than Germline Genes. PMID:35205751
Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology. PMID:35205378
PrimPol: A Breakthrough among DNA Replication Enzymes and a Potential New Target for Cancer Therapy. PMID:35204749
The Expression Quantitative Trait Loci in Immune Response Genes Impact the Characteristics and Survival of Colorectal Cancer. PMID:35204406
Comprehensive analysis of the MIR4435-2HG/miR-1-3p/MMP9/miR-29-3p/DUXAP8 ceRNA network axis in hepatocellular carcinoma. PMID:35201491
Deep neural network prediction of genome-wide transcriptome signatures - beyond the Black-box. PMID:35197482
Predicting genotype-specific gene regulatory networks. PMID:35193937
Cross-ancestry Genome-wide Association Studies of Sex Hormone Concentrations in Pre- and Postmenopausal Women. PMID:35192695
Interpreting coronary artery disease GWAS results: A functional genomics approach assessing biological significance. PMID:35192625
Prognostic and Immunological Roles of MMP-9 in Pan-Cancer. PMID:35178444
Transcriptome-wide association study of coronary artery disease identifies novel susceptibility genes. PMID:35175464
Biallelic Variants in CFAP61 Cause Multiple Morphological Abnormalities of the Flagella and Male Infertility. PMID:35174165
Placental methylome reveals a 22q13.33 brain regulatory gene locus associated with autism. PMID:35168652
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics. PMID:35151370
Intron-Retention Neoantigen Load Predicts Favorable Prognosis in Pancreatic Cancer. PMID:35148169
Data Integration Challenges for Machine Learning in Precision Medicine. PMID:35145977
STENCIL: A web templating engine for visualizing and sharing life science datasets. PMID:35139076
SMAP is a pipeline for sample matching in proteogenomics. PMID:35136070
Systematic evaluation of the prognostic and immunological role of PDLIM2 across 33 cancer types. PMID:35121770
PTPRO predicts patient prognosis and correlates with immune infiltrates in human clear cell renal cell carcinoma. PMID:35117843
Methylation of PLIN5 is a crucial biomarker and is involved in ovarian cancer development. PMID:35117648
Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines. PMID:35115730
Gαi2-induced conductin/axin2 condensates inhibit Wnt/β-catenin signaling and suppress cancer growth. PMID:35115535
Identification of potential functional variants and genes at 18q21.1 associated with the carcinogenesis of colorectal cancer. PMID:35108261
The FUT2 Variant c.461G>A (p.Trp154*) Is Associated With Differentially Expressed Genes and Nasopharyngeal Microbiota Shifts in Patients With Otitis Media. PMID:35096646
The oncogenic role of treacle ribosome biogenesis factor 1 (TCOF1) in human tumors: a pan-cancer analysis. PMID:35093935
Colon stroma mediates an inflammation-driven fibroblastic response controlling matrix remodeling and healing. PMID:35085231
Mitochondrial-nuclear epistasis underlying phenotypic variation in breast cancer pathology. PMID:35082309
Involvement of the long intergenic non-coding RNA LINC00461 in schizophrenia. PMID:35081922
GWAS identifies candidate susceptibility loci and microRNA biomarkers for acute encephalopathy with biphasic seizures and late reduced diffusion. PMID:35079012
Genome-wide annotation of protein-coding genes in pig. PMID:35073880
Prognostic Landscape of Tumor-Infiltrating T and B Cells in Human Cancer. PMID:35069521
A flexible summary statistics-based colocalization method with application to the mucin cystic fibrosis lung disease modifier locus. PMID:35065708
Integrated clinical characteristics and omics analysis identifies a ferroptosis and iron-metabolism-related lncRNA signature for predicting prognosis and therapeutic responses in ovarian cancer. PMID:35057848
Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics. PMID:35055388
Multi-Omics Profiling Approach to Asthma: An Evolving Paradigm. PMID:35055381
Genetic Regulation of Cytokine Response in Patients with Acute Community-Acquired Pneumonia. PMID:35052452
TIGAR-V2: Efficient TWAS tool with nonparametric Bayesian eQTL weights of 49 tissue types from GTEx V8. PMID:35047855
Epigenetics of single-site and multi-site atherosclerosis in African Americans from the Genetic Epidemiology Network of Arteriopathy (GENOA). PMID:35039093
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants. PMID:35032432
Network-based prioritization of cancer biomarkers by phenotype-driven module detection and ranking. PMID:35024093
GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia. PMID:35023831
Fine mapping with epigenetic information and 3D structure. PMID:35022890
Mammalian brain glycoproteins exhibit diminished glycan complexity compared to other tissues. PMID:35022400
The activity of human enhancers is modulated by the splicing of their associated lncRNAs. PMID:35015755
Modeling SARS-CoV-2 spike/ACE2 protein-protein interactions for predicting the binding affinity of new spike variants for ACE2, and novel ACE2 structurally related human protein targets, for COVID-19 handling in the 3PM context. PMID:35013687
Integrating gene expression and clinical data to identify drug repurposing candidates for hyperlipidemia and hypertension. PMID:35013250
Potential biomarkers and signaling pathways associated with the pathogenesis of primary salivary gland carcinoma: a bioinformatics study. PMID:35012286
The Sulfotransferase SULT1C2 Is Epigenetically Activated and Transcriptionally Induced by Tobacco Exposure and Is Associated with Patient Outcome in Lung Adenocarcinoma. PMID:35010676
Genetic Analysis Reveals the Prognostic Significance of the DNA Mismatch Repair Gene MSH2 in Advanced Prostate Cancer. PMID:35008387
Population-level genome-wide STR discovery and validation for population structure and genetic diversity assessment of Plasmodium species. PMID:35007277
The 3p21.31 genetic locus promotes progression to type 1 diabetes through the CCR2/CCL2 pathway. PMID:35005592
The landscape of human tissue and cell type specific expression and co-regulation of senescence genes. PMID:35000600
Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders. PMID:34991727
TF-Marker: a comprehensive manually curated database for transcription factors and related markers in specific cell and tissue types in human. PMID:34986601
Regulatory Variant rs2535629 in ITIH3 Intron Confers Schizophrenia Risk By Regulating CTCF Binding and SFMBT1 Expression. PMID:34978167
Protumor Effects of Histone H3-H4 Chaperone Antisilencing Feature 1B Gene on Lung Adenocarcinoma: In Silico and In Vitro Analyses. PMID:34956399
Mouse Organ-Specific Proteins and Functions. PMID:34943957
Large-Scale Tissue Microarray Evaluation Corroborates High Specificity of High-Level Arginase-1 Immunostaining for Hepatocellular Carcinoma. PMID:34943588
Transgenic Model Systems Have Revolutionized the Study of Disease. PMID:34941457
Two-Sample Multivariable Mendelian Randomization Analysis Using R. PMID:34936225
The MYEOV-MYC association promotes oncogenic miR-17/93-5p expression in pancreatic ductal adenocarcinoma. PMID:34930894
LDexpress: an online tool for integrating population-specific linkage disequilibrium patterns with tissue-specific expression data. PMID:34930111
Identifying cancer pathway dysregulations using differential causal effects. PMID:34927666
Integrative Analysis of MALT1 as a Potential Therapeutic Target for Prostate Cancer and its Immunological Role in Pan-Cancer. PMID:34926571
Genome-wide gene-air pollution interaction analysis of lung function in 300,000 individuals. PMID:34923368
Genetically-predicted prefrontal DRD4 gene expression modulates differentiated brain responses to food cues in adolescent girls and boys. PMID:34916545
TiMEG: an integrative statistical method for partially missing multi-omics data. PMID:34911979
Metabolic drug survey highlights cancer cell dependencies and vulnerabilities. PMID:34907165
Navigating Multi-Scale Cancer Systems Biology Towards Model-Driven Clinical Oncology and Its Applications in Personalized Therapeutics. PMID:34900668
Cognitive Development and Brain Gray Matter Susceptibility to Prenatal Adversities: Moderation by the Prefrontal Cortex Brain-Derived Neurotrophic Factor Gene Co-expression Network. PMID:34899157
Evaluation of Sex-Aware PrediXcan Models for Predicting Gene Expression. PMID:34890163
Carboxypeptidase A1 (CPA1) Immunohistochemistry Is Highly Sensitive and Specific for Acinar Cell Carcinoma (ACC) of the Pancreas. PMID:34889867
Probing Isoform Switching Events in Various Cancer Types: Lessons From Pan-Cancer Studies. PMID:34888349
Proteomic Analysis Identifies NDUFS1 and ATP5O as Novel Markers for Survival Outcome in Prostate Cancer. PMID:34885151
Gene Expression in Barrett's Esophagus Cell Lines Resemble Esophageal Squamous Cell Carcinoma Instead of Esophageal Adenocarcinoma. PMID:34885081
Zfhx3 Transcription Factor Represses the Expression of SCN5A Gene and Decreases Sodium Current Density (INa). PMID:34884836
Conservation of A-to-I RNA editing in bowhead whale and pig. PMID:34882682
The effect of renin-angiotensin-aldosterone system inhibitors on organ-specific ace2 expression in zebrafish and its implications for COVID-19. PMID:34880395
Targeted analysis of genomic regions enriched in African ancestry reveals novel classical HLA alleles associated with asthma in Southwestern Europeans. PMID:34880287
Multifunctional RNA-binding proteins influence mRNA abundance and translational efficiency of distinct sets of target genes. PMID:34879078
Deep resequencing identifies candidate functional genes in leprosy GWAS loci. PMID:34879060
Characterization of the GATA Transcription Factor Family and Exploration of Their Relevance to Immune Infiltration and Tumor Microenvironment in Pancreatic Cancer. PMID:34876843
Metagenome-genome-wide association studies reveal human genetic impact on the oral microbiome. PMID:34873157
Single cell sequencing analysis identifies genetics-modulated ORMDL3+ cholangiocytes having higher metabolic effects on primary biliary cholangitis. PMID:34872583
Cilium Expression Score Predicts Glioma Survival. PMID:34868236
Compelling Evidence Linking CD40 Gene With Graves' Disease in the Chinese Han Population. PMID:34867801
Association of low-frequency and rare coding variants with information processing speed. PMID:34864818
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. PMID:34859289
Dynamic prostate cancer transcriptome analysis delineates the trajectory to disease progression. PMID:34857732
Comprehensive analysis of an immune infiltrate-related competitive endogenous RNA network reveals potential prognostic biomarkers for non-small cell lung cancer. PMID:34855841
Pan-cancer analysis of non-oncogene addiction to DNA repair. PMID:34853396
KAT6A and ENL Form an Epigenetic Transcriptional Control Module to Drive Critical Leukemogenic Gene-Expression Programs. PMID:34853079
Association between WWOX/MAF variants and dementia-related neuropathologic endophenotypes. PMID:34852950
ConsensusPathDB 2022: molecular interactions update as a resource for network biology. PMID:34850110
LRRC15 is an inhibitory receptor blocking SARS-CoV-2 spike-mediated entry in trans. PMID:34845449
High-throughput mediation analysis of human proteome and metabolome identifies mediators of post-bariatric surgical diabetes control. PMID:34845204
recount3: summaries and queries for large-scale RNA-seq expression and splicing. PMID:34844637
Advances in Non-Coding RNA Sequencing. PMID:34842804
A two-stage genome-wide association study of radiation-induced acute toxicity in head and neck cancer. PMID:34838041
Deep learning enables genetic analysis of the human thoracic aorta. PMID:34837083
Role of Sex on the Genetic Susceptibility to Childhood Asthma in Latinos and African Americans. PMID:34834492
High Grade of Amplification of Six Regions on Chromosome 2p in a Neuroblastoma Patient with Very Poor Outcome: The Putative New Oncogene TSSC1. PMID:34830942
Cyclin E1 in Murine and Human Liver Cancer: A Promising Target for Therapeutic Intervention during Tumour Progression. PMID:34830835
H3K27ac HiChIP in prostate cell lines identifies risk genes for prostate cancer susceptibility. PMID:34822763
A Genome-Wide Association Study Identifies Novel Risk Loci for Sarcopenia in a Taiwanese Population. PMID:34815687
Six1 promotes skeletal muscle thyroid hormone response through regulation of the MCT10 transporter. PMID:34809717
Association of single nucleotide polymorphisms with insulin secretion, insulin sensitivity, and diabetes in women with a history of gestational diabetes mellitus. PMID:34801028
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. PMID:34800363
Identification of the regulatory role of lncRNA HCG18 in myasthenia gravis by integrated bioinformatics and experimental analyses. PMID:34794447
R-loopBase: a knowledgebase for genome-wide R-loop formation and regulation. PMID:34792163
lncRNA DDGC participates in premature ovarian insufficiency through regulating RAD51 and WT1. PMID:34786213
scPower accelerates and optimizes the design of multi-sample single cell transcriptomic studies. PMID:34785648
Alternative poly-adenylation modulates α1-antitrypsin expression in chronic obstructive pulmonary disease. PMID:34784346
A large-scale transcriptome-wide association study (TWAS) of 10 blood cell phenotypes reveals complexities of TWAS fine-mapping. PMID:34779012
Annotation of pituitary neuroendocrine tumors with genome-wide expression analysis. PMID:34758873
Privacy-preserving genotype imputation with fully homomorphic encryption. PMID:34758288
Identification of a novel tumour microenvironment-based prognostic biomarker in skin cutaneous melanoma. PMID:34755462
CYP11B1 variants influence skeletal maturation via alternative splicing. PMID:34754074
An Expanded Genome-Wide Association Study of Fructosamine Levels Identifies RCN3 as a Replicating Locus and Implicates FCGRT as the Effector Transcript. PMID:34753797
An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients. PMID:34746695
Aging whole blood transcriptome reveals candidate genes for SARS-CoV-2-related vascular and immune alterations. PMID:34741638
The Rat Genome Database (RGD) facilitates genomic and phenotypic data integration across multiple species for biomedical research. PMID:34741192
Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders. PMID:34741163
Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake. PMID:34741066
Linc-ROR facilitates progression and angiogenesis of hepatocellular carcinoma by modulating DEPDC1 expression. PMID:34741030
Advances in integrative African genomics. PMID:34740451
DNA methylation at a nutritionally sensitive region of the PAX8 gene is associated with thyroid volume and function in Gambian children. PMID:34739318
Lupus susceptibility region containing CTLA4 rs17268364 functionally reduces CTLA4 expression by binding EWSR1 and correlates IFN-α signature. PMID:34736521
Model constructions of chemosensitivity and prognosis of high grade serous ovarian cancer based on evaluation of immune microenvironment and immune response. PMID:34736480
Tissue, age, sex, and disease patterns of matrisome expression in GTEx transcriptome data. PMID:34732773
Tumor relevant protein functional interactions identified using bipartite graph analyses. PMID:34728699
Molecular programs of fibrotic change in aging human lung. PMID:34728633
FOXR1 regulates stress response pathways and is necessary for proper brain development. PMID:34723967
3DSNP 2.0: update and expansion of the noncoding genomic variant annotation database. PMID:34723317
SPP1 Promotes Enzalutamide Resistance and Epithelial-Mesenchymal-Transition Activation in Castration-Resistant Prostate Cancer via PI3K/AKT and ERK1/2 Pathways. PMID:34721759
TUBA1C is a Prognostic Marker in Low-grade Glioma and Correlates with Immune Cell Infiltration in the Tumor Microenvironment. PMID:34721547
Prediction of the Effects of Variants and Differential Expression of Key Host Genes ACE2, TMPRSS2, and FURIN in SARS-CoV-2 Pathogenesis: An In Silico Approach. PMID:34720581
TcoFBase: a comprehensive database for decoding the regulatory transcription co-factors in human and mouse. PMID:34718747
RNAInter v4.0: RNA interactome repository with redefined confidence scoring system and improved accessibility. PMID:34718726
BrainBase: a curated knowledgebase for brain diseases. PMID:34718720
OncoDB: an interactive online database for analysis of gene expression and viral infection in cancer. PMID:34718715
Similarity-Based Analysis of Allele Frequency Distribution among Multiple Populations Identifies Adaptive Genomic Structural Variants. PMID:34718708
A comprehensive review of the analysis and integration of omics data for SARS-CoV-2 and COVID-19. PMID:34718395
Predicting physiological aging rates from a range of quantitative traits using machine learning. PMID:34718232
Refining models of archaic admixture in Eurasia with ArchaicSeeker 2.0. PMID:34716342
A network-based approach reveals the dysregulated transcriptional regulation in non-alcoholic fatty liver disease. PMID:34712920
Computational characterization of domain-segregated 3D chromatin structure and segmented DNA methylation status in carcinogenesis. PMID:34708506
SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed. PMID:34708205
Exome-Wide Association Study Identifies East Asian-Specific Missense Variant MTHFR C136T Influencing Homocysteine Levels in Chinese Populations RH: ExWAS of tHCY in a Chinese Population. PMID:34707639
Identification of Endothelial Proteins in Plasma Associated With Cardiovascular Risk Factors. PMID:34706560
The Relationship between rs534654 Polymorphism in TMEM165 Gene and Increased Risk of Bipolar Disorder Type 1. PMID:34703799
Prioritizing natural-selection signals from the deep-sequencing genomic data suggests multi-variant adaptation in Tibetan highlanders. PMID:34691999
Aberrant expression of SFRP1, SFRP3, DVL2 and DVL3 Wnt signaling pathway components in diffuse gastric carcinoma. PMID:34691249
Recent innovations and in-depth aspects of post-genome wide association study (Post-GWAS) to understand the genetic basis of complex phenotypes. PMID:34689168
Artificial intelligence and machine learning approaches for drug design: challenges and opportunities for the pharmaceutical industries. PMID:34686947
Angiotensin II-Induced Long Non-Coding RNA Alivec Regulates Chondrogenesis in Vascular Smooth Muscle Cells. PMID:34685676
Carrot Consumption Frequency Associated with Reduced BMI and Obesity through the SNP Intermediary rs4445711. PMID:34684477
Evaluation of Genotype-Based Gene Expression Model Performance: A Cross-Framework and Cross-Dataset Study. PMID:34680927
Genomic Risk Factors for Cervical Cancer. PMID:34680286
Candidate Gene Polymorphisms Influence the Susceptibility to Salt Sensitivity of Blood Pressure in a Han Chinese Population: Risk Factors as Mediators. PMID:34671380
Cell Type Dependent Suppression of Inflammatory Mediators by Myocardin Related Transcription Factors. PMID:34671275
Comprehensive landscape of the renin-angiotensin system in Pan-cancer: a potential downstream mediated mechanism of SARS-CoV-2. PMID:34671200
Differentially accessible, single copy sequences form contiguous domains along metaphase chromosomes that are conserved among multiple tissues. PMID:34670606
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders. PMID:34663891
Association between nitric oxide synthase T-786C genetic polymorphism and chronic kidney disease: Meta-analysis incorporating trial sequential analysis. PMID:34662360
Overexpression of P4HA1 associates with poor prognosis and promotes cell proliferation and metastasis of lung adenocarcinoma. PMID:34659558
Deep post-GWAS analysis identifies potential risk genes and risk variants for Alzheimer's disease, providing new insights into its disease mechanisms. PMID:34654853
Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases. PMID:34654805
Genetic Polymorphisms of IFNG, IFNGR1, and Androgen Receptor and Chronic Prostatitis/Chronic Pelvic Pain Syndrome in a Chinese Han Population. PMID:34646402
Compelling Evidence Suggesting the Codon Usage of SARS-CoV-2 Adapts to Human After the Split From RaTG13. PMID:34646060
Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization. PMID:34645894
TIGER: The gene expression regulatory variation landscape of human pancreatic islets. PMID:34644572
Germline determinants of humoral immune response to HPV-16 protect against oropharyngeal cancer. PMID:34642315
Identification of Estrogen Signaling in a Prioritization Study of Intraocular Pressure-Associated Genes. PMID:34638643
Integrative epigenomic and high-throughput functional enhancer profiling reveals determinants of enhancer heterogeneity in gastric cancer. PMID:34635154
CeDR Atlas: a knowledgebase of cellular drug response. PMID:34634794
Integrative eQTL-weighted hierarchical Cox models for SNP-set based time-to-event association studies. PMID:34627275
Modeling alpha-synuclein pathology in a human brain-chip to assess blood-brain barrier disruption. PMID:34625559
An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates. PMID:34621504
A sex-specific evolutionary interaction between ADCY9 and CETP. PMID:34609279
Genetic Variants of CLPP and M1AP Are Associated With Risk of Non-Small Cell Lung Cancer. PMID:34604049
TTC39B destabilizes retinoblastoma protein promoting hepatic lipogenesis in a sex-specific fashion. PMID:34600974
Systematic investigation of cytokine signaling activity at the tissue and single-cell levels. PMID:34594031
Gene Expression Nebulas (GEN): a comprehensive data portal integrating transcriptomic profiles across multiple species at both bulk and single-cell levels. PMID:34591957
Associations of GWAS-Identified Risk Loci with Progression, Efficacy and Toxicity of Radiotherapy of Head and Neck Squamous Cell Carcinoma Treated with Radiotherapy. PMID:34584443
Genetic variants associated with platelet count are predictive of human disease and physiological markers. PMID:34580418
miRNATissueAtlas2: an update to the human miRNA tissue atlas. PMID:34570238
Novel characterization of the multivariate genetic architecture of internalizing psychopathology and alcohol use. PMID:34569141
EditPredict: Prediction of RNA editable sites with convolutional neural network. PMID:34562567
Investigating the shared genetic architecture between multiple sclerosis and inflammatory bowel diseases. PMID:34561436
SLC25A24 gene methylation and gray matter volume in females with and without conduct disorder: an exploratory epigenetic neuroimaging study. PMID:34561420
Pseudogene-Mediated Gene Conversion After CRISPR-Cas9 Editing Demonstrated by Partial CD33 Conversion with SIGLEC22P. PMID:34558988
HOXD9‑induced SCNN1A upregulation promotes pancreatic cancer cell proliferation, migration and predicts prognosis by regulating epithelial‑mesenchymal transformation. PMID:34558641
Bias-invariant RNA-sequencing metadata annotation. PMID:34553213
Expression quantitative trait loci for ETV4 and MEOX1 are associated with adult asthma in Japanese populations. PMID:34552174
Polymorphic estrogen receptor binding site causes Cd2-dependent sex bias in the susceptibility to autoimmune diseases. PMID:34552089
Adropin and insulin resistance: Integration of endocrine, circadian, and stress signals regulating glucose metabolism. PMID:34549523
A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank. PMID:34542152
Pan-Cancer Analysis of Atrial-Fibrillation-Related Innate Immunity Gene ANXA4. PMID:34540918
Regulation of the Muscarinic M3 Receptor by Myocardin-Related Transcription Factors. PMID:34539433
GenNet framework: interpretable deep learning for predicting phenotypes from genetic data. PMID:34535759
Genome-wide functional screen of 3'UTR variants uncovers causal variants for human disease and evolution. PMID:34534445
Human genomics of the humoral immune response against polyomaviruses. PMID:34532061
Association of Genetic Variants Affecting microRNAs and Pancreatic Cancer Risk. PMID:34527018
Analysis of genes (TMEM106B, GRN, ABCC9, KCNMB2, and APOE) implicated in risk for LATE-NC and hippocampal sclerosis provides pathogenetic insights: a retrospective genetic association study. PMID:34526147
A natural variant in ANP32B impairs influenza virus replication in human cells. PMID:34524075
Genetic variation in genes regulating skeletal muscle regeneration and tissue remodelling associated with weight loss in chronic obstructive pulmonary disease. PMID:34523824
Blood copper and risk of cardiometabolic diseases: a Mendelian randomization study. PMID:34523676
The Thioesterase ACOT1 as a Regulator of Lipid Metabolism in Type 2 Diabetes Detected in a Multi-Omics Study of Human Liver. PMID:34520261
Tissue heterogeneity is prevalent in gene expression studies. PMID:34514392
The odd-1(tm848) mutation has no significant effect on brood size in Caenorhabditis elegans. PMID:34514357
Characterization of immune landscape in papillary thyroid cancer reveals distinct tumor immunogenicity and implications for immunotherapy. PMID:34513318
Cross-Species and Human Inter-Tissue Network Analysis of Genes Implicated in Longevity and Aging Reveal Strong Support for Nutrient Sensing. PMID:34512728
SARS-CoV-2 Impairs Dendritic Cells and Regulates DC-SIGN Gene Expression in Tissues. PMID:34502134
Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathy. PMID:34499417
Pan-Cancer Analysis Identified C1ORF112 as a Potential Biomarker for Multiple Tumor Types. PMID:34490347
Joint eQTL mapping and Inference of Gene Regulatory Network Improves Power of Detecting both cis- and trans-eQTLs. PMID:34487140
An Ovarian Cancer Susceptible Gene Prediction Method Based on Deep Learning Methods. PMID:34485310
Aggresome-Autophagy Associated Gene HDAC6 Is a Potential Biomarker in Pan-Cancer, Especially in Colon Adenocarcinoma. PMID:34485153
The "GEnomics of Musculo Skeletal Traits TranslatiOnal NEtwork": Origins, Rationale, Organization, and Prospects. PMID:34484122
Fast and Scalable Private Genotype Imputation Using Machine Learning and Partially Homomorphic Encryption. PMID:34476144
A prelude to the proximity interaction mapping of CXXC5. PMID:34475492
A virus-free cellular model recapitulates several features of severe COVID-19. PMID:34471195
Proteins Associated with Risk of Kidney Function Decline in the General Population. PMID:34465608
Adropin correlates with aging-related neuropathology in humans and improves cognitive function in aging mice. PMID:34462439
Addiction-Associated Genetic Variants Implicate Brain Cell Type- and Region-Specific Cis-Regulatory Elements in Addiction Neurobiology. PMID:34462306
Privacy-preserving genotype imputation in a trusted execution environment. PMID:34450045
Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction. PMID:34446935
Investigation of LINC00493/SMIM26 Gene Suggests Its Dual Functioning at mRNA and Protein Level. PMID:34445188
Cell Adhesion Molecules in Normal Skin and Melanoma. PMID:34439879
Computational Approaches for Cancer-Fighting: From Gene Expression to Functional Foods. PMID:34439361
p21-activated kinase 4 phosphorylates peroxisome proliferator-activated receptor Υ and suppresses skeletal muscle regeneration. PMID:34431242
A primer on machine learning techniques for genomic applications. PMID:34429852
Systematic functional interrogation of human pseudogenes using CRISPRi. PMID:34425866
The regulatory impact of RNA-binding proteins on microRNA targeting. PMID:34417449
Detecting methylation quantitative trait loci using a methylation random field method. PMID:34414410
Genetics of PlGF plasma levels highlights a role of its receptors and supports the link between angiogenesis and immunity. PMID:34413389
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. PMID:34413140
Comprehensive characterization of pharmacogenetic variants in TPMT and NUDT15 in children with acute lymphoblastic leukemia. PMID:34412101
Cox-sMBPLS: An Algorithm for Disease Survival Prediction and Multi-Omics Module Discovery Incorporating Cis-Regulatory Quantitative Effects. PMID:34408773
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. PMID:34407837
Identification of COVID-19 and Dengue Host Factor Interaction Networks Based on Integrative Bioinformatics Analyses. PMID:34394108
Susceptibility loci and polygenic architecture highlight population specific and common genetic features in inguinal hernias: genetics in inguinal hernias. PMID:34392144
Genome-wide Association Study Identified Chromosome 8 Locus Associated with Medication-Related Osteonecrosis of the Jaw. PMID:34390503
Pharmacologically targeting molecular motor promotes mitochondrial fission for anti-cancer. PMID:34386324
nf-LO: A Scalable, Containerized Workflow for Genome-to-Genome Lift Over. PMID:34383887
Deconvolution of Expression for Nascent RNA sequencing data (DENR) highlights pre-RNA isoform diversity in human cells. PMID:34382072
Genome-wide association study followed by trans-ancestry meta-analysis identify 17 new risk loci for schizophrenia. PMID:34380480
Identifying genetic variants for age of migraine onset in a Han Chinese population in Taiwan. PMID:34380431
Decreased levels of cathepsin Z mRNA expressed by immune blood cells: diagnostic and prognostic implications in prostate cancer. PMID:34378678
Cholinergic receptor nicotinic beta 3 subunit polymorphisms and smoking in male Chinese patients with schizophrenia. PMID:34368810
Coronary Artery Disease Genetics Enlightened by Genome-Wide Association Studies. PMID:34368511
Pattern of placental alkaline phosphatase (PLAP) expression in human tumors: a tissue microarray study on 12,381 tumors. PMID:34363325
Assessing the potential correlation of polymorphisms in the IL6R with relative IL6 elevation in severely ill COVID-19 patients'. PMID:34353696
The effects of genotype on inflammatory response in hippocampal progenitor cells: A computational approach. PMID:34345870
White button mushroom interrupts tissue AR-mediated TMPRSS2 expression and attenuates pro-inflammatory cytokines in C57BL/6 mice. PMID:34341347
A machine learning case-control classifier for schizophrenia based on DNA methylation in blood. PMID:34341337
A single cell transcriptomics map of paracrine networks in the intrinsic cardiac nervous system. PMID:34337356
RNA-binding proteins modulate drug sensitivity of cancer cells. PMID:34328175
Common Variants in NUS1 and GP2 Genes Contributed to the Risk of Gestational Diabetes Mellitus. PMID:34326813
Distinct signatures of codon and codon pair usage in 32 primary tumor types in the novel database CancerCoCoPUTs for cancer-specific codon usage. PMID:34321100
Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies candidate susceptibility genes for breast and ovarian cancer. PMID:34317694
Tissue-specific expression of p73 and p63 isoforms in human tissues. PMID:34315849
Drug repurposing strategies of relevance for Parkinson's disease. PMID:34309236
A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer. PMID:34309201
Exploiting the molecular basis of age and gender differences in outcomes of SARS-CoV-2 infections. PMID:34306570
Autophagy-related genes contribute to malignant progression and have a clinical prognostic impact in colon adenocarcinoma. PMID:34306201
A pH-eQTL Interaction at the RIT2-SYT4 Parkinson's Disease Risk Locus in the Substantia Nigra. PMID:34305570
Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci. PMID:34302048
Functional Roles of Bromodomain Proteins in Cancer. PMID:34298819
Helicobacter pylori-induced protein tyrosine phosphatase receptor type C as a prognostic biomarker for gastric cancer. PMID:34295557
Quantifying the contribution of Neanderthal introgression to the heritability of complex traits. PMID:34294692
Clinical and genetic risk factors for radiation-associated ototoxicity: A report from the Childhood Cancer Survivor Study and the St. Jude Lifetime Cohort. PMID:34286861
Computational analysis of TMPRSS2 expression in normal and SARS-CoV-2-infected human tissues. PMID:34284028
ADAM9-Responsive Mesoporous Silica Nanoparticles for Targeted Drug Delivery in Pancreatic Cancer. PMID:34282781
Splicing in the Diagnosis of Rare Disease: Advances and Challenges. PMID:34276790
Long Non-coding RNAs: Mechanisms, Experimental, and Computational Approaches in Identification, Characterization, and Their Biomarker Potential in Cancer. PMID:34276764
Genomic and pleiotropic analyses of resting QT interval identifies novel loci and overlap with atrial electrical disorders. PMID:34274964
eQTpLot: a user-friendly R package for the visualization of colocalization between eQTL and GWAS signals. PMID:34273980
Hepcidin-regulating iron metabolism genes and pancreatic ductal adenocarcinoma: a pathway analysis of genome-wide association studies. PMID:34258619
InTACT: An adaptive and powerful framework for joint-tissue transcriptome-wide association studies. PMID:34255882
ADEIP: an integrated platform of age-dependent expression and immune profiles across human tissues. PMID:34254996
The 2021 update of the EPA's adverse outcome pathway database. PMID:34253739
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
Tissue-specific 5-hydroxymethylcytosine landscape of the human genome. PMID:34253716
A transcriptome-wide association study to detect novel genes for volumetric bone mineral density. PMID:34252604
Genetic Control of Human Infection with SARS-CoV-2. PMID:34248311
ARHGEF26 enhances Salmonella invasion and inflammation in cells and mice. PMID:34242364
Pain Experience in Pancreatitis: Strong Association of Genetic Risk Loci for Anxiety and PTSD in Patients With Severe, Constant, and Constant-Severe Pain. PMID:34236339
Development and Validation of Epigenetic Modification-Related Signals for the Diagnosis and Prognosis of Hepatocellular Carcinoma. PMID:34235075
The site of breast cancer metastases dictates their clonal composition and reversible transcriptomic profile. PMID:34233875
Investigation of convergent and divergent genetic influences underlying schizophrenia and alcohol use disorder. PMID:34231451
Identification and validation of a five-lncRNA signature for predicting survival with targeted drug candidates in ovarian cancer. PMID:34224310
DNA Repair Gene Polymorphisms and Chromosomal Aberrations in Exposed Populations. PMID:34220964
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes. PMID:34220947
Genome-Wide Association Study of Korean Asthmatics: A Comparison With UK Asthmatics. PMID:34212547
Regulatory SNPs: Altered Transcription Factor Binding Sites Implicated in Complex Traits and Diseases. PMID:34208629
CAR T cells targeting tumor-associated exons of glypican 2 regress neuroblastoma in mice. PMID:34195677
TGM4: an immunogenic prostate-restricted antigen. PMID:34193566
Transcriptome-wide association study of post-trauma symptom trajectories identified GRIN3B as a potential biomarker for PTSD development. PMID:34188182
Selection and thermostability suggest G-quadruplexes are novel functional elements of the human genome. PMID:34187812
m6A RNA methylation regulators were associated with the malignancy and prognosis of ovarian cancer. PMID:34187307
Influence of APOE locus on poor prognosis of COVID-19. PMID:34179542
LABRAT reveals association of alternative polyadenylation with transcript localization, RNA binding protein expression, transcription speed, and cancer survival. PMID:34174817
Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy. PMID:34169208
Genome-wide association study of body fat distribution traits in Hispanics/Latinos from the HCHS/SOL. PMID:34165540
BACH1 Binding Links the Genetic Risk for Severe Periodontitis with ST8SIA1. PMID:34160287
Frequent POLE-driven hypermutation in ovarian endometrioid cancer revealed by mutational signatures in RNA sequencing. PMID:34158040
CALM supports clathrin-coated vesicle completion upon membrane tension increase. PMID:34155137
Integrative proteomic network analyses support depot-specific roles for leucine rich repeat LGI family member 3 in adipose tissues. PMID:34149883
Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions. PMID:34149802
Interferon Lambda 3/4 (IFNλ3/4) rs12979860 Polymorphisms Is Not Associated With Susceptibility to Systemic Lupus Erythematosus, Although It Regulates OASL Expression in Patients With SLE. PMID:34149799
A community challenge to evaluate RNA-seq, fusion detection, and isoform quantification methods for cancer discovery. PMID:34146471
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia. PMID:34145744
Human intelectin-1 (ITLN1) genetic variation and intestinal expression. PMID:34145348
A unified framework identifies new links between plasma lipids and diseases from electronic medical records across large-scale cohorts. PMID:34140684
Shifting epigenetic contexts influence regulatory variation and disease risk. PMID:34138751
Making fundamental scientific discoveries by combining information from literature, databases, and computational tools - An example. PMID:34136100
Plasma Proteomics of Renal Function: A Trans-ethnic Meta-analysis and Mendelian Randomization Study. PMID:34135082
SAU-Net: A Unified Network for Cell Counting in 2D and 3D Microscopy Images. PMID:34133284
DGLinker: flexible knowledge-graph prediction of disease-gene associations. PMID:34125897
Overexpression of RIPK4 Predicts Poor Prognosis and Promotes Metastasis in Ovarian Cancer. PMID:34124253
T-LAK cell-originated protein kinase (TOPK): an emerging prognostic biomarker and therapeutic target in osteosarcoma. PMID:34115928
Genome-wide association identifies the first risk loci for psychosis in Alzheimer disease. PMID:34112972
Identifying molecular targets for reverse aging using integrated network analysis of transcriptomic and epigenomic changes during aging. PMID:34112891
Mapping methylation quantitative trait loci in cardiac tissues nominates risk loci and biological pathways in congenital heart disease. PMID:34112112
FMD and SCAD: Sex-Biased Arterial Diseases With Clinical and Genetic Pleiotropy. PMID:34110898
YB1 regulates miR-205/200b-ZEB1 axis by inhibiting microRNA maturation in hepatocellular carcinoma. PMID:34110104
Specialty Grand Challenge for Molecular Signalling and Pathways in Molecular Neuroscience. PMID:34108865
Multiomics analysis reveals CT83 is the most specific gene for triple negative breast cancer and its hypomethylation is oncogenic in breast cancer. PMID:34108519
60 Years Young: The Evolving Role of Allogeneic Hematopoietic Stem Cell Transplantation in Cancer Immunotherapy. PMID:34108142
Network medicine links SARS-CoV-2/COVID-19 infection to brain microvascular injury and neuroinflammation in dementia-like cognitive impairment. PMID:34108016
An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein. PMID:34107263
Association of Novel Locus With Rheumatic Heart Disease in Black African Individuals: Findings From the RHDGen Study. PMID:34106200
Cyclin-dependent kinase 7 (CDK7) is an emerging prognostic biomarker and therapeutic target in osteosarcoma. PMID:34104229
Molecular omics resources should require sex annotation: a call for action. PMID:34099934
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. PMID:34099642
Genome-wide association study of letrozole plasma concentrations identifies non-exonic variants that may affect CYP2A6 metabolic activity. PMID:34096894
Hybrid Stomach-Intestinal Chromatin States Underlie Human Barrett's Metaplasia. PMID:34090884
Chamber-enriched gene expression profiles in failing human hearts with reduced ejection fraction. PMID:34088950
Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families. PMID:34069769
Natural Antisense Transcript PEBP1P3 Regulates the RNA Expression, DNA Methylation and Histone Modification of CD45 Gene. PMID:34067766
A Genome-Wide Association Study for Hypertensive Kidney Disease in Korean Men. PMID:34067580
NFAT5-Mediated Signalling Pathways in Viral Infection and Cardiovascular Dysfunction. PMID:34064510
High-throughput framework for genetic analyses of adverse drug reactions using electronic health records. PMID:34061827
Polee: RNA-Seq analysis using approximate likelihood. PMID:34056596
snpXplorer: a web application to explore human SNP-associations and annotate SNP-sets. PMID:34048563
Replicated risk CACNA1C variants for major psychiatric disorders may serve as potential therapeutic targets for the shared depressive endophenotype. PMID:34046650
scGRNom: a computational pipeline of integrative multi-omics analyses for predicting cell-type disease genes and regulatory networks. PMID:34044854
Identifying Susceptibility Loci for Cutaneous Squamous Cell Carcinoma Using a Fast Sequence Kernel Association Test. PMID:34040636
Receptor for advanced glycation end-products axis and coronavirus disease 2019 in inflammatory bowel diseases: A dangerous liaison? PMID:34040321
Reference SVA insertion polymorphisms are associated with Parkinson's Disease progression and differential gene expression. PMID:34035310
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs. PMID:34033851
PTSD is associated with accelerated transcriptional aging in World Trade Center responders. PMID:34031357
Association of SUMOylation Pathway Genes With Stroke in a Genome-Wide Association Study in India. PMID:34031191
Extremes of age are associated with differences in the expression of selected pattern recognition receptor genes and ACE2, the receptor for SARS-CoV-2: implications for the epidemiology of COVID-19 disease. PMID:34030677
Transcriptome-wide association study uncovers the role of essential genes in anthracycline-induced cardiotoxicity. PMID:34021165
Transcriptome-wide association study identifies new susceptibility genes and pathways for depression. PMID:34021117
KEA3: improved kinase enrichment analysis via data integration. PMID:34019655
A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity. PMID:34015270
Chrom-Lasso: a lasso regression-based model to detect functional interactions using Hi-C data. PMID:34013331
Feasibility of predicting allele specific expression from DNA sequencing using machine learning. PMID:34012022
Current understanding of epigenetics in atopic dermatitis. PMID:34008901
Activated mast cells in skeletal muscle can be a potential mediator for cancer-associated cachexia. PMID:34008339
Genetic Variants, Circulating Level of MCP1 with Risk of Chronic Obstructive Pulmonary Disease: A Case-Control Study. PMID:34007204
A multi-omics study links TNS3 and SEPT7 to long-term former smoking NSCLC survival. PMID:34002017
Polymorphism of Proteasomal Genes Can Be a Risk Factor for Systemic Autoimmune Diseases in Children. PMID:33996179
Analysis of Amount, Size, Protein Phenotype and Molecular Content of Circulating Extracellular Vesicles Identifies New Biomarkers in Multiple Myeloma. PMID:33994784
Single-PanIN-seq unveils that ARID1A deficiency promotes pancreatic tumorigenesis by attenuating KRAS-induced senescence. PMID:33983114
Landscape of allele-specific transcription factor binding in the human genome. PMID:33980847
Direct Immunodetection of Global A-to-I RNA Editing Activity with a Chemiluminescent Bioassay. PMID:33979483
Novel association between a transient receptor potential cation channel subfamily M member 5 expression quantitative trait locus rs35197079 and decreased susceptibility of gestational diabetes mellitus in a Chinese population. PMID:33979016
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase. PMID:33977140
RNA-binding protein YBX1 promotes cell proliferation and invasiveness of nasopharyngeal carcinoma cells via binding to AURKA mRNA. PMID:33976741
Polyadenylation-related isoform switching in human evolution revealed by full-length transcript structure. PMID:33973996
Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes. PMID:33972514
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. PMID:33970200
TieBrush: an efficient method for aggregating and summarizing mapped reads across large datasets. PMID:33964128
Selective sweep for an enhancer involucrin allele identifies skin barrier adaptation out of Africa. PMID:33963188
Defining functional variants associated with Alzheimer's disease in the induced immune response. PMID:33959712
CD28 Genetic Variants Increase Susceptibility to Diabetic Kidney Disease in Chinese Patients with Type 2 Diabetes: A Cross-Sectional Case Control Study. PMID:33958973
Tejaas: reverse regression increases power for detecting trans-eQTLs. PMID:33957961
Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease. PMID:33953184
A Human Endogenous Bornavirus-Like Nucleoprotein Encodes a Mitochondrial Protein Associated with Cell Viability. PMID:33952640
Multi-omic analysis elucidates the genetic basis of hydrocephalus. PMID:33951428
Association of Rare Genetic Variants and Early-Onset Atrial Fibrillation in Ethnic Minority Individuals. PMID:33950154
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. PMID:33949769
Integrative genomics analysis reveals a 21q22.11 locus contributing risk to COVID-19. PMID:33949668
Protein structure-based gene expression signatures. PMID:33941686
Disparities in COVID-19 severities and casualties across ethnic groups around the globe and patterns of ACE2 and PIR variants. PMID:33933634
An intronic variant in the CELF4 gene is associated with risk for colorectal cancer. PMID:33930674
Variants That Differentiate Wolf and Dog Populations Are Enriched in Regulatory Elements. PMID:33929504
Machine learning outperforms thermodynamics in measuring how well a many-body system learns a drive. PMID:33927225
Genetic Variants of lncRNA GAS5 Are Associated with the Clinicopathologic Development of Oral Cancer. PMID:33925911
Analysis of TERT Isoforms across TCGA, GTEx and CCLE Datasets. PMID:33924498
Mesothelin Expression in Human Tumors: A Tissue Microarray Study on 12,679 Tumors. PMID:33917081
Shared genetic etiology and causality between body fat percentage and cardiovascular diseases: a large-scale genome-wide cross-trait analysis. PMID:33910581
Pathogenic missense protein variants affect different functional pathways and proteomic features than healthy population variants. PMID:33909605
A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease. PMID:33909500
Increased pro-MMP9 plasma levels are associated with neovascular age-related macular degeneration and with the risk allele of rs142450006 near MMP9. PMID:33907369
Distinct diagnostic and prognostic values of Glypicans gene expression in patients with hepatocellular carcinoma. PMID:33902495
The impact of non-additive genetic associations on age-related complex diseases. PMID:33893285
Glutathione-related genetic polymorphisms are associated with mercury retention and nephrotoxicity in gold-mining settings of a Colombian population. PMID:33888803
Human brain region-specific variably methylated regions are enriched for heritability of distinct neuropsychiatric traits. PMID:33888138
FOXP3‑induced LINC00885 promotes the proliferation and invasion of cervical cancer cells. PMID:33880574
Modeling transcriptional regulation using gene regulatory networks based on multi-omics data sources. PMID:33874910
Development of a Prognostic Model for Ovarian Cancer Patients Based on Novel Immune Microenvironment Related Genes. PMID:33869044
A pan-cancer transcriptome analysis of exitron splicing identifies novel cancer driver genes and neoepitopes. PMID:33861991
ZNF410 represses fetal globin by singular control of CHD4. PMID:33859416
Genetically determined telomere length and multiple myeloma risk and outcome. PMID:33854038
Mechanism of REST/NRSF regulation of clustered protocadherin α genes. PMID:33849071
HLA-DQB1 6672G>C (rs113332494) is associated with clozapine-induced neutropenia and agranulocytosis in individuals of European ancestry. PMID:33846298
Role of genetics in atrial fibrillation management. PMID:33837754
L Antigen Family Member 3 Serves as a Prognostic Biomarker for the Clinical Outcome and Immune Infiltration in Skin Cutaneous Melanoma. PMID:33829062
Lack of association of CD44-rs353630 and CHI3L2-rs684559 with pancreatic ductal adenocarcinoma survival. PMID:33828170
An extended catalogue of tandem alternative splice sites in human tissue transcriptomes. PMID:33826604
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder. PMID:33824500
Identification of human glucocorticoid response markers using integrated multi-omic analysis from a randomized crossover trial. PMID:33821793
Functional Interrogation of Enhancer Connectome Prioritizes Candidate Target Genes at Ovarian Cancer Susceptibility Loci. PMID:33815481
TSPAN1, TMPRSS4, SDR16C5, and CTSE as Novel Panel for Pancreatic Cancer: A Bioinformatics Analysis and Experiments Validation. PMID:33815409
DNA Methylation at ATP11A cg11702988 Is a Biomarker of Lung Disease Severity in Cystic Fibrosis: A Longitudinal Study. PMID:33808877
TNMplot.com: A Web Tool for the Comparison of Gene Expression in Normal, Tumor and Metastatic Tissues. PMID:33807717
SARS-CoV-2 Disease Adjuvant Therapies and Supplements Breakthrough for the Infection Prevention. PMID:33806624
Gene Co-Expression Analysis of Human RNASEH2A Reveals Functional Networks Associated with DNA Replication, DNA Damage Response, and Cell Cycle Regulation. PMID:33805806
Landscape of Chimeric RNAs in Non-Cancerous Cells. PMID:33805149
Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects. PMID:33798553
Whole-genome sequencing reveals new Alzheimer's disease-associated rare variants in loci related to synaptic function and neuronal development. PMID:33797837
DECO: a framework for jointly analyzing de novo and rare case/control variants, and biological pathways. PMID:33791774
Network medicine links SARS-CoV-2/COVID-19 infection to brain microvascular injury and neuroinflammation in dementia-like cognitive impairment. PMID:33791705
Which Hyperglycemic Model of Zebrafish (Danio rerio) Suites My Type 2 Diabetes Mellitus Research? A Scoring System for Available Methods. PMID:33791308
Assessing the Associations of Growth Differentiation Factor 15 with Rheumatic Diseases Using Genetic Data. PMID:33790654
MTSplice predicts effects of genetic variants on tissue-specific splicing. PMID:33789710
Next-Generation Sequencing Reveals the Progression of COVID-19. PMID:33777844
Preoperative immune landscape predisposes adverse outcomes in hepatocellular carcinoma patients with liver transplantation. PMID:33772139
The transcriptional trajectories of pluripotency and differentiation comprise genes with antithetical architecture and repetitive-element content. PMID:33765992
Coping with brain amyloid: genetic heterogeneity and cognitive resilience to Alzheimer's pathophysiology. PMID:33757599
UXT antisense RNA 1 sever as a novel prognostic long non-coding RNA in early stage pancreatic ductal adenocarcinoma patients after receiving pancreaticoduodenectomy. PMID:33754011
Epigenome-wide association study of whole blood gene expression in Framingham Heart Study participants provides molecular insight into the potential role of CHRNA5 in cigarette smoking-related lung diseases. PMID:33752734
Exposure to violence, chronic stress, nasal DNA methylation, and atopic asthma in children. PMID:33751861
New biomarkers from multiomics approaches: improving risk prediction of atrial fibrillation. PMID:33751041
Enhancer Pleiotropy, Gene Expression, and the Architecture of Human Enhancer-Gene Interactions. PMID:33749795
Advancing drug discovery using the power of the human genome. PMID:33748968
Sequential Administration of XPO1 and ATR Inhibitors Enhances Therapeutic Response in TP53-mutated Colorectal Cancer. PMID:33745946
Functional and Adaptive Significance of Promoter Mutations That Affect Divergent Myocardial Expressions of TRIM72 in Primates. PMID:33744959
Pan-cancer analysis identifies ITIH1 as a novel prognostic indicator for hepatocellular carcinoma. PMID:33744857
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation. PMID:33743207
Nutrient restriction synergizes with retinoic acid to induce mammalian meiotic initiation in vitro. PMID:33741948
The transcriptional landscape of Shh medulloblastoma. PMID:33741928
Gene-environment correlations and causal effects of childhood maltreatment on physical and mental health: a genetically informed approach. PMID:33740410
Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR. PMID:33739555
Leveraging the cell lineage to predict cell-type specificity of regulatory variation from bulk genomics. PMID:33734353
High Expression of LINC01268 is Positively Associated with Hepatocellular Carcinoma Progression via Regulating MAP3K7. PMID:33727826
NG2/CSPG4, CD146/MCAM and VAP1/AOC3 are regulated by myocardin-related transcription factors in smooth muscle cells. PMID:33727640
Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder. PMID:33723354
Personalized cancer vaccine strategy elicits polyfunctional T cells and demonstrates clinical benefits in ovarian cancer. PMID:33723260
Exploration of the Prognostic and Immunotherapeutic Value of B and T Lymphocyte Attenuator in Skin Cutaneous Melanoma. PMID:33718105
Common and Rare Variants Genetic Association Analysis of Circulating Neutrophil Extracellular Traps. PMID:33717105
Profiling chromatin accessibility in pediatric acute lymphoblastic leukemia identifies subtype-specific chromatin landscapes and gene regulatory networks. PMID:33714976
A Genome-Wide Association Study of Nausea Incidence in Varenicline-Treated Cigarette Smokers. PMID:33713409
Global discovery of lupus genetic risk variant allelic enhancer activity. PMID:33712590
Evidence for CAT gene being functionally involved in the susceptibility of COVID-19. PMID:33710662
Genome-wide association studies of exacerbations in children using long-acting beta2-agonists. PMID:33706416
Characterization of SALL2 Gene Isoforms and Targets Across Cell Types Reveals Highly Conserved Networks. PMID:33692826
Increased co-expression of PSMA2 and GLP-1 receptor in cervical cancer models in type 2 diabetes attenuated by Exendin-4: A translational case-control study. PMID:33684886
Camostat mesylate inhibits SARS-CoV-2 activation by TMPRSS2-related proteases and its metabolite GBPA exerts antiviral activity. PMID:33676899
Nucleolin acts as the receptor for C1QTNF4 and supports C1QTNF4-mediated innate immunity modulation. PMID:33676896
AP-1 subunits converge promiscuously at enhancers to potentiate transcription. PMID:33674350
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta. PMID:33672174
Novel Inhibitors of Nicotinamide-N-Methyltransferase for the Treatment of Metabolic Disorders. PMID:33668468
Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers. PMID:33667223
Identification of hub genes associated with neutrophils infiltration in colorectal cancer. PMID:33666342
Genetic variants in m6A modification core genes are associated with glioma risk in Chinese children. PMID:33665358
Reduced expression of innate immunity-related genes in lymph node metastases of luminal breast cancer patients. PMID:33658651
A catalog of associations between rare coding variants and COVID-19 outcomes. PMID:33655273
Cross-species data integration to prioritize causal genes in lipid metabolism. PMID:33651746
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. PMID:33644933
Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis. PMID:33636100
rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis. PMID:33633225
Revealing the role of the human blood plasma proteome in obesity using genetic drivers. PMID:33627659
Integrative analysis of liver-specific non-coding regulatory SNPs associated with the risk of coronary artery disease. PMID:33626337
Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease. PMID:33619501
Identifying Thyroid Carcinoma-Related Genes by Integrating GWAS and eQTL Data. PMID:33614667
Ageing transcriptome meta-analysis reveals similarities and differences between key mammalian tissues. PMID:33611312
Chromatin Looping Links Target Genes with Genetic Risk Loci for Dermatological Traits. PMID:33607115
Low-grade chronic inflammation and immune alterations in childhood and adolescent cancer survivors: A contribution to accelerated aging? PMID:33605556
Identification of Key Gene Signatures Associated With Bone Metastasis in Castration-Resistant Prostate Cancer Using Co-Expression Analysis. PMID:33604283
Interprofessional education of the next generation of musician-scientists through music cognition research training: An innovative platform for health professions and biomedical research. PMID:33603955
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. PMID:33597508
Identification of a novel genetic locus associated with immune-mediated thrombotic thrombocytopenic purpura. PMID:33596643
Genome-wide analysis suggests the importance of vascular processes and neuroinflammation in late-life antidepressant response. PMID:33589590
The Peptide Vaccine of the Future. PMID:33583769
Possible modification of BRSK1 on the risk of alkylating chemotherapy-related reduced ovarian function. PMID:33582778
CONQUER: an interactive toolbox to understand functional consequences of GWAS hits. PMID:33575630
Identification and analysis of RNA structural disruptions induced by single nucleotide variants using Riprap and RiboSNitchDB. PMID:33575608
Association between NER pathway gene polymorphisms and neuroblastoma risk in an eastern Chinese population. PMID:33575466
Mapping of susceptible variants for cold medicine-related Stevens-Johnson syndrome by whole-genome resequencing. PMID:33574277
Evolved Resistance to Placental Invasion Secondarily Confers Increased Survival in Melanoma Patients. PMID:33562461
Inference of phenotype-relevant transcriptional regulatory networks elucidates cancer type-specific regulatory mechanisms in a pan-cancer study. PMID:33558504
Interpretable Multimodal Fusion Networks Reveal Mechanisms of Brain Cognition. PMID:33556002
Aberrant splicing in neuroblastoma generates RNA-fusion transcripts and provides vulnerability to spliceosome inhibitors. PMID:33555349
A Novel 10-Gene Signature Predicts Poor Prognosis in Low Grade Glioma. PMID:33550903
Bivariate genome-wide association study (GWAS) of body mass index and blood pressure phenotypes in northern Chinese twins. PMID:33539483
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia. PMID:33539324
Genome-wide analysis identifies novel susceptibility loci for myocardial infarction. PMID:33532862
Characterizing modifier genes of cardiac fibrosis phenotype in hypertrophic cardiomyopathy. PMID:33529666
Combined effects of genotype and childhood adversity shape variability of DNA methylation across age. PMID:33526782
Synthetic lethality across normal tissues is strongly associated with cancer risk, onset, and tumor suppressor specificity. PMID:33523837
Epigenetic regulator BMI1 promotes alveolar rhabdomyosarcoma proliferation and constitutes a novel therapeutic target. PMID:33523558
Identification of Potential Prognostic Competing Triplets in High-Grade Serous Ovarian Cancer. PMID:33519912
Convergent lines of evidence support BIN1 as a risk gene of Alzheimer's disease. PMID:33516273
Verifying explainability of a deep learning tissue classifier trained on RNA-seq data. PMID:33514769
Long Non-Coding RNA FENDRR: Gene Structure, Expression, and Biological Relevance. PMID:33513839
Gene-based association analysis identifies 190 genes affecting neuroticism. PMID:33510330
Tumor Profiling at the Service of Cancer Therapy. PMID:33505911
Transcriptome-wide Mendelian randomization study prioritising novel tissue-dependent genes for glioma susceptibility. PMID:33504897
Whole-Genome Sequence Data Suggest Environmental Adaptation of Ethiopian Sheep Populations. PMID:33501931
Noninvasive stratification of nonalcoholic fatty liver disease by whole transcriptome cell-free mRNA characterization. PMID:33501884
Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder. PMID:33495439
Haplotype structure defines effects of common DPYD variants c.85T > C (rs1801265) and c.496A > G (rs2297595) on dihydropyrimidine dehydrogenase activity: Implication for 5-fluorouracil toxicity. PMID:33491253
An integrative multiomic network model links lipid metabolism to glucose regulation in coronary artery disease. PMID:33483510
Genetic Variation in Enhancers Modifies Cardiomyopathy Gene Expression and Progression. PMID:33478249
SUMO-Activating Enzyme Subunit 1 (SAE1) Is a Promising Diagnostic Cancer Metabolism Biomarker of Hepatocellular Carcinoma. PMID:33477333
NAD+ boosting reduces age-associated amyloidosis and restores mitochondrial homeostasis in muscle. PMID:33472069
Replication and meta-analyses nominate numerous eosinophilic esophagitis risk genes. PMID:33446330
Transcriptome-wide high-throughput mapping of protein-RNA occupancy profiles using POP-seq. PMID:33441968
Blood-derived mitochondrial DNA copy number is associated with gene expression across multiple tissues and is predictive for incident neurodegenerative disease. PMID:33441415
The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases. PMID:33438800
Cerebrospinal fluid metabolomics identifies 19 brain-related phenotype associations. PMID:33437055
Impact of low-frequency coding variants on human facial shape. PMID:33436952
Identification of significantly mutated subnetworks in the breast cancer genome. PMID:33436820
Refractory alveolar rhabdomyosarcoma in an 11-year-old male. PMID:33436392
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations. PMID:33432171
An Integrative Pan-Cancer Analysis Revealing LCN2 as an Oncogenic Immune Protein in Tumor Microenvironment. PMID:33425761
Upregulation of RAC3 in bladder cancer predicts adverse clinical outcome and increased tumor immune response. PMID:33425095
Comparative Analysis of Dorsal Root, Nodose and Sympathetic Ganglia for the Development of New Analgesics. PMID:33424545
Common variants in MAEA gene contributed the susceptibility to osteoporosis in Han Chinese postmenopausal women. PMID:33423677
Identification of key modules and hub genes in glioblastoma multiforme based on co-expression network analysis. PMID:33423377
Expression of SARS-COV-2 cell receptor gene ACE2 is associated with immunosuppression and metabolic reprogramming in lung adenocarcinoma based on bioinformatics analyses of gene expression profiles. PMID:33422520
Pleiotropic genetic influence on birth weight and childhood obesity. PMID:33420178
Novel Linkage Peaks Discovered for Diabetic Nephropathy in Individuals With Type 1 Diabetes. PMID:33414249
A Hierarchical Approach Using Marginal Summary Statistics for Multiple Intermediates in a Mendelian Randomization or Transcriptome Analysis. PMID:33404048
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability. PMID:33402679
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction. PMID:33398198
Integrated molecular characterisation of the MAPK pathways in human cancers reveals pharmacologically vulnerable mutations and gene dependencies. PMID:33398072
The aging transcriptome and cellular landscape of the human lung in relation to SARS-CoV-2. PMID:33397975
Atlas of ACE2 gene expression reveals novel insights into transmission of SARS-CoV-2. PMID:33392409
Identification of lncRNA-mRNA Regulatory Module to Explore the Pathogenesis and Prognosis of Melanoma. PMID:33392203
Circular PVT1 regulates cell proliferation and invasion via miR-149-5p/FOXM1 axis in ovarian cancer. PMID:33391456
Alteration of Proteotranscriptomic Landscape Reveals the Transcriptional Regulatory Circuits Controlling Key-Signaling Pathways and Metabolic Reprogramming During Tumor Evolution. PMID:33384992
Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment. PMID:33383876
Investigating Pregnancy and Its Complications Using Circulating Cell-Free RNA in Women's Blood During Gestation. PMID:33381480
MicroRNA-574 regulates FAM210A expression and influences pathological cardiac remodeling. PMID:33369227
Effects of transcriptional noise on estimates of gene and transcript expression in RNA sequencing experiments. PMID:33361112
Promoter-interacting expression quantitative trait loci are enriched for functional genetic variants. PMID:33349701
Germline Genetic Association between Stromal Interaction Molecule 1 (STIM1) and Clinical Outcomes in Breast Cancer Patients. PMID:33348924
Tumors Widely Express Hundreds of Embryonic Germline Genes. PMID:33348709
Transcriptome Sequencing Reveals Potential Roles of ICOS in Primary Sjögren's Syndrome. PMID:33344450
Cell Type-Specific Annotation and Fine Mapping of Variants Associated With Brain Disorders. PMID:33343624
Validation of Susceptibility Loci for Vitiligo Identified by GWAS in the Chinese Han Population. PMID:33343616
A Topic Modeling Analysis of TCGA Breast and Lung Cancer Transcriptomic Data. PMID:33339347
MuscleAtlasExplorer: a web service for studying gene expression in human skeletal muscle. PMID:33338203
Coupling of autism genes to tissue-wide expression and dysfunction of synapse, calcium signalling and transcriptional regulation. PMID:33338084
Network preservation reveals shared and unique biological processes associated with chronic alcohol abuse in NAc and PFC. PMID:33332381
PEREGRINE: A genome-wide prediction of enhancer to gene relationships supported by experimental evidence. PMID:33320871
GWAS and Beyond: Using Omics Approaches to Interpret SNP Associations. PMID:33312764
AN1-type zinc finger protein 3 (ZFAND3) is a transcriptional regulator that drives Glioblastoma invasion. PMID:33311477
Large-scale meta-analysis across East Asian and European populations updated genetic architecture and variant-driven biology of rheumatoid arthritis, identifying 11 novel susceptibility loci. PMID:33310728
Gene expression profiling of orbital muscles in treatment-resistant ophthalmoplegic myasthenia gravis. PMID:33308266
Genome-wide association study of asthma exacerbations despite inhaled corticosteroid use. PMID:33303529
Prognostic value of Glypican family genes in early-stage pancreatic ductal adenocarcinoma after pancreaticoduodenectomy and possible mechanisms. PMID:33302876
Germline variation in the insulin-like growth factor pathway and risk of Barrett's esophagus and esophageal adenocarcinoma. PMID:33300568
NIH Workshop Report: sensory nutrition and disease. PMID:33300030
Sex-Biased Aging Effects on Ig Somatic Hypermutation Targeting. PMID:33288546
Postnatal Development of Glutamate and GABA Transcript Expression in Monkey Visual, Parietal, and Prefrontal Cortices. PMID:33279960
Conserved Epigenetic Regulatory Logic Infers Genes Governing Cell Identity. PMID:33278344
The landscape of long noncoding RNA-involved and tumor-specific fusions across various cancers. PMID:33275145
MassArray analysis of genomic susceptibility variants in ovarian cancer. PMID:33273524
Transcriptional Differences for COVID-19 Disease Map Genes between Males and Females Indicate a Different Basal Immunophenotype Relevant to the Disease. PMID:33271804
Novel Risk Loci Associated With Genetic Risk for Bipolar Disorder Among Han Chinese Individuals: A Genome-Wide Association Study and Meta-analysis. PMID:33263727
HLA-A29 and Birdshot Uveitis: Further Down the Rabbit Hole. PMID:33262772
Whole blood co-expression modules associate with metabolic traits and type 2 diabetes: an IMI-DIRECT study. PMID:33261667
An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder. PMID:33261099
SNP-SNP Interaction in Genes Encoding PD-1/PD-L1 Axis as a Potential Risk Factor for Clear Cell Renal Cell Carcinoma. PMID:33255938
Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation. PMID:33253230
Alternative AKT2 splicing produces protein lacking the hydrophobic motif regulatory region. PMID:33253205
Common diseases alter the physiological age-related blood microRNA profile. PMID:33235214
Dosing of factor VIII concentrate by ideal body weight is more accurate in overweight and obese haemophilia A patients. PMID:33232535
Upregulation of KIF20A promotes tumor proliferation and invasion in renal clear cell carcinoma and is associated with adverse clinical outcome. PMID:33232285
Identification of Long Noncoding RNAs Involved in Differentiation and Survival of Vascular Smooth Muscle Cells. PMID:33230428
ERICH3: vesicular association and antidepressant treatment response. PMID:33230203
Computational gene expression profiling in the exploration of biomarkers, non-coding functional RNAs and drug perturbagens for COVID-19. PMID:33228475
Genome-wide association study identifies 16 genomic regions associated with circulating cytokines at birth. PMID:33227023
Piezo1 channels mediate trabecular meshwork mechanotransduction and promote aqueous fluid outflow. PMID:33226641
Identification of Spindle and Kinetochore-Associated Family Genes as Therapeutic Targets and Prognostic Biomarkers in Pancreas Ductal Adenocarcinoma Microenvironment. PMID:33224872
canSAR: update to the cancer translational research and drug discovery knowledgebase. PMID:33219674
Polygenic Risk Score of Longevity Predicts Longer Survival Across an Age Continuum. PMID:33216869
Analysis of HLA-G long-read genomic sequences in mother-offspring pairs with preeclampsia. PMID:33208885
Methods for correcting inference based on outcomes predicted by machine learning. PMID:33208538
Functional Specialization of Human Salivary Glands and Origins of Proteins Intrinsic to Human Saliva. PMID:33207190
Characterizing the function of EPB41L4A in the predisposition to papillary thyroid carcinoma. PMID:33203992
Identifying chromosomal subpopulations based on their recombination histories advances the study of the genetic basis of phenotypic traits. PMID:33203765
Germline Variants That Affect Tumor Progression. PMID:33203571
Comparison of DNA Methylation Profiles of Hemostatic Genes between Liver Tissue and Peripheral Blood within Individuals. PMID:33202445
Improving target assessment in biomedical research: the GOT-IT recommendations. PMID:33199880
Identifying Pathways and Networks Associated With the SARS-CoV-2 Cell Receptor ACE2 Based on Gene Expression Profiles in Normal and SARS-CoV-2-Infected Human Tissues. PMID:33195414
Bioinformatic analysis of SMN1-ACE/ACE2 interactions hinted at a potential protective effect of spinal muscular atrophy against COVID-19-induced lung injury. PMID:33190150
Data Sanitization to Reduce Private Information Leakage from Functional Genomics. PMID:33186529
Functional investigation of the coronary artery disease gene SVEP1. PMID:33185739
The ZSWIM8 ubiquitin ligase mediates target-directed microRNA degradation. PMID:33184237
Exploring the Role of Contactins across Psychological, Psychiatric and Cardiometabolic Traits within UK Biobank. PMID:33182605
Rapid response to the alpha-1 adrenergic agent phenylephrine in the perioperative period is impacted by genomics and ancestry. PMID:33168928
A network medicine approach to investigation and population-based validation of disease manifestations and drug repurposing for COVID-19. PMID:33156843
Genome-wide meta-analysis of brain volume identifies genomic loci and genes shared with intelligence. PMID:33154357
Genotype-Based Gene Expression in Colon Tissue-Prediction Accuracy and Relationship with the Prognosis of Colorectal Cancer Patients. PMID:33142733
An integrative multi-omics network-based approach identifies key regulators for breast cancer. PMID:33133424
Genome-Wide Search for SNP Interactions in GWAS Data: Algorithm, Feasibility, Replication Using Schizophrenia Datasets. PMID:33133133
Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing. PMID:33125268
WDR34, a candidate gene for non-syndromic rod-cone dystrophy. PMID:33124039
Comprehensive Analysis of Prognostic Markers for Acute Myeloid Leukemia Based on Four Metabolic Genes. PMID:33117716
High-depth African genomes inform human migration and health. PMID:33116287
Mohawk is a transcription factor that promotes meniscus cell phenotype and tissue repair and reduces osteoarthritis severity. PMID:33115953
Biomarker Prioritisation and Power Estimation Using Ensemble Gene Regulatory Network Inference. PMID:33114263
Modeling of variables in cellular infection reveals CXCL10 levels are regulated by human genetic variation and the Chlamydia-encoded CPAF protease. PMID:33106516
A novel computational approach for predicting complex phenotypes in Drosophila (starvation-sensitive and sterile) by deriving their gene expression signatures from public data. PMID:33104720
Integrative Transcriptome Analyses Empower the Anti-COVID-19 Drug Arsenal. PMID:33103068
Genetic Analysis Identifies the Role of HLF in Renal Cell Carcinoma. PMID:33099483
A large-scale genome-wide association study meta-analysis of cannabis use disorder. PMID:33096046
The endosomal trafficking regulator LITAF controls the cardiac Nav1.5 channel via the ubiquitin ligase NEDD4-2. PMID:33093176
A genome-wide association study of severe asthma exacerbations in Latino children and adolescents. PMID:33093117
LocusFocus: Web-based colocalization for the annotation and functional follow-up of GWAS. PMID:33090994
PLEK2 Gene Upregulation Might Independently Predict Shorter Progression-Free Survival in Lung Adenocarcinoma. PMID:33084541
Improved detection of tumor suppressor events in single-cell RNA-Seq data. PMID:33083012
MITF is a driver oncogene and potential therapeutic target in kidney angiomyolipoma tumors through transcriptional regulation of CYR61. PMID:33082558
Cruciform DNA in mouse growing oocytes: Its dynamics and its relationship with DNA transcription. PMID:33079963
PopInf: An Approach for Reproducibly Visualizing and Assigning Population Affiliation in Genomic Samples of Uncertain Origin. PMID:33074720
Cardiorenal Tissues Express SARS-CoV-2 Entry Genes and Basigin (BSG/CD147) Increases With Age in Endothelial Cells. PMID:33073064
signatureSearch: environment for gene expression signature searching and functional interpretation. PMID:33068417
Adipocyte-specific deletion of Tcf7l2 induces dysregulated lipid metabolism and impairs glucose tolerance in mice. PMID:33068125
Integrated genomics analysis highlights important SNPs and genes implicated in moderate-to-severe asthma based on GWAS and eQTL datasets. PMID:33066754
Association of CNVs with methylation variation. PMID:33062306
Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles. PMID:33059616
Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia. PMID:33057169
A review of systems biology research of anxiety disorders. PMID:33053074
Exploration into biomarker potential of region-specific brain gene co-expression networks. PMID:33051491
Integrative genomics analysis identifies promising SNPs and genes implicated in tuberculosis risk based on multiple omics datasets. PMID:33051402
Whole Transcriptome Analysis Reveals Heterogeneity in B Cell Memory Populations in Patients With Juvenile Idiopathic Arthritis-Associated Uveitis. PMID:33042130
Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk. PMID:33037222
Association of Common Variants of TNFSF13 and TNFRSF13B Genes with CLL Risk and Clinical Picture, as Well as Expression of Their Products-APRIL and TACI Molecules. PMID:33036273
Humanization of Drosophila Gαo to Model GNAO1 Paediatric Encephalopathies. PMID:33036271
Systematic analysis of the transcriptome in small-cell carcinoma of the oesophagus reveals its immune microenvironment. PMID:33033616
Molecular Pathways Linking Oxylipins to Nociception in Rats. PMID:33031942
Analysis of Trans-Ancestral SLE Risk Loci Identifies Unique Biologic Networks and Drug Targets in African and European Ancestries. PMID:33031749
A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos. PMID:33031748
Somatic mutation distributions in cancer genomes vary with three-dimensional chromatin structure. PMID:33020667
Cdc6 disruption leads to centrosome abnormalities and chromosome instability in pancreatic cancer cells. PMID:33020506
Plasma ACE2 and risk of death or cardiometabolic diseases: a case-cohort analysis. PMID:33010842
CancerImmunityQTL: a database to systematically evaluate the impact of genetic variants on immune infiltration in human cancer. PMID:33010176
Top-ranked expressed gene transcripts of human protein-coding genes investigated with GTEx dataset. PMID:33004865
Chromatin accessibility landscape and regulatory network of high-altitude hypoxia adaptation. PMID:33004791
Co-expression of calcium and hERG potassium channels reduces the incidence of proarrhythmic events. PMID:33002116
Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci. PMID:33002040
Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases. PMID:33001999
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. PMID:33001864
Genetic basis of falling risk susceptibility in the UK Biobank Study. PMID:32999390
Renin Angiotensin System, COVID-19 and Male Fertility: Any Risk for Conceiving? PMID:32998451
The Gene-Regulatory Footprint of Aging Highlights Conserved Central Regulators. PMID:32997995
The effects of common variants in MDM2 and GNRH2 genes on the risk and survival of osteosarcoma in Han populations from Northwest China. PMID:32994424
Quantitative and time-resolved miRNA pattern of early human T cell activation. PMID:32990751
Genome-wide association study identifies 48 common genetic variants associated with handedness. PMID:32989287
FADS genetic and metabolomic analyses identify the ∆5 desaturase (FADS1) step as a critical control point in the formation of biologically important lipids. PMID:32985521
Next-Generation Analytics for Omics Data. PMID:32976776
Comprehensive assessment of side effects in COVID-19 drug pipeline from a network perspective. PMID:32971210
A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis. PMID:32968195
Transcriptomic profiling of human cardiac cells predicts protein kinase inhibitor-associated cardiotoxicity. PMID:32968055
SIRT1 Gene SNP rs932658 Is Associated With Medication-Related Osteonecrosis of the Jaw. PMID:32967053
IsoResolve: predicting splice isoform functions by integrating gene and isoform-level features with domain adaptation. PMID:32966552
SARS-CoV-2 and the possible connection to ERs, ACE2, and RAGE: Focus on susceptibility factors. PMID:32965736
Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer. PMID:32964118
Post-GWAS knowledge gap: the how, where, and when. PMID:32964108
Distinct peripheral blood monocyte and neutrophil transcriptional programs following intracerebral hemorrhage and different etiologies of ischemic stroke. PMID:32960689
PRAM: a novel pooling approach for discovering intergenic transcripts from large-scale RNA sequencing experiments. PMID:32958497
Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study. PMID:32949544
Ovarian Cancer Risk Variants Are Enriched in Histotype-Specific Enhancers and Disrupt Transcription Factor Binding Sites. PMID:32946763
Genetic Polymorphisms in Multispecific Transporters Mitigate Mercury Nephrotoxicity in an Artisanal and Small-Scale Gold Mining Community in Colombia. PMID:32946573
Genetic variants beyond amyloid and tau associated with cognitive decline: A cohort study. PMID:32938779
Single-cell genomics technology: perspectives. PMID:32929223
An era of single-cell genomics consortia. PMID:32929222
Transcription factor POU3F2 regulates TRIM8 expression contributing to cellular functions implicated in schizophrenia. PMID:32929213
The causal effect of obesity on prediabetes and insulin resistance reveals the important role of adipose tissue in insulin resistance. PMID:32925908
Integration of multiomic annotation data to prioritize and characterize inflammation and immune-related risk variants in squamous cell lung cancer. PMID:32924180
Exploratory Analysis of Single-Gene Predictive Biomarkers in HERA DASL Cohort Reveals That C8A mRNA Expression Is Prognostic of Outcome and Predictive of Benefit of Trastuzumab. PMID:32913993
The GTEx Consortium atlas of genetic regulatory effects across human tissues. PMID:32913098
The impact of sex on gene expression across human tissues. PMID:32913072
Spectacle: An interactive resource for ocular single-cell RNA sequencing data analysis. PMID:32910939
Analysis of Drug Metabolizing Gene Panel in Osteosarcoma Patients Identifies Association Between Variants in SULT1E1, CYP2B6 and CYP4F8 and Methotrexate Levels and Toxicities. PMID:32903464
Predicting the recombination potential of severe acute respiratory syndrome coronavirus 2 and Middle East respiratory syndrome coronavirus. PMID:32902372
Druggable Targets in Endocannabinoid Signaling. PMID:32894511
A genome-wide association study of asthma hospitalizations in adults. PMID:32890573
Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction. PMID:32887874
rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis. PMID:32882372
Pathogenic impact of transcript isoform switching in 1,209 cancer samples covering 27 cancer types using an isoform-specific interaction network. PMID:32879328
Genetic polymorphisms associated with telomere length and risk of developing myeloproliferative neoplasms. PMID:32873778
Low Baseline Pulmonary Levels of Cytotoxic Lymphocytes as a Predisposing Risk Factor for Severe COVID-19. PMID:32873611
Expression profiling of WD40 family genes including DDB1- and CUL4- associated factor (DCAF) genes in mice and human suggests important regulatory roles in testicular development and spermatogenesis. PMID:32867693
The HMGB1-2 Ovarian Cancer Interactome. The Role of HMGB Proteins and Their Interacting Partners MIEN1 and NOP53 in Ovary Cancer and Drug-Response. PMID:32867128
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy. PMID:32862205
Multi-site Investigation of Genetic Determinants of Warfarin Dose Variability in Latinos. PMID:32860733
Global transcriptional downregulation of TREX and nuclear trafficking machinery as pan-senescence phenomena: evidence from human cells and tissues. PMID:32859952
Novel carfilzomib-based combinations as potential therapeutic strategies for liposarcomas. PMID:32851475
Gender Differential Transcriptome in Gastric and Thyroid Cancers. PMID:32849808
Massively Parallel Reporter Assays: Defining Functional Psychiatric Genetic Variants Across Biological Contexts. PMID:32843144
SAP30BP gene is associated with the susceptibility of rotator cuff tear: a case-control study based on Han Chinese population. PMID:32843068
Genome-wide association study reveals a novel locus for asthma with severe exacerbations in diverse populations. PMID:32841424
Estimation and inference for the indirect effect in high-dimensional linear mediation models. PMID:32831353
Integrative genomics analysis identifies five promising genes implicated in insomnia risk based on multiple omics datasets. PMID:32830860
Gene Expression and RNA Splicing Imputation Identifies Novel Candidate Genes Associated with Osteoporosis. PMID:32827035
Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis. PMID:32826979
CORE GREML for estimating covariance between random effects in linear mixed models for complex trait analyses. PMID:32826890
DataRemix: a universal data transformation for optimal inference from gene expression datasets. PMID:32821903
Comprehensive analysis of the mechanism and treatment significance of Mucins in lung cancer. PMID:32807223
The evolving systemic biomarker milieu in obese ZSF1 rat model of human cardiometabolic syndrome: Characterization of the model and cardioprotective effect of GDF15. PMID:32804947
Leverage Large-Scale Biological Networks to Decipher the Genetic Basis of Human Diseases Using Machine Learning. PMID:32804369
Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits. PMID:32797044
On the cross-population generalizability of gene expression prediction models. PMID:32797036
Camostat mesylate inhibits SARS-CoV-2 activation by TMPRSS2-related proteases and its metabolite GBPA exerts antiviral activity. PMID:32793911
Interpretation of psychiatric genome-wide association studies with multispecies heterogeneous functional genomic data integration. PMID:32791514
Spatial Transcriptomics of Nematodes Identifies Sperm Cells as a Source of Genomic Novelty and Rapid Evolution. PMID:32785688
Common Susceptibility Loci for Male Breast Cancer. PMID:32785646
Using functional genomics to advance the understanding of psoriatic arthritis. PMID:32778885
Computational Identification of Tumor Suppressor Genes Based on Gene Expression Profiles in Normal and Cancerous Gastrointestinal Tissues. PMID:32774369
Epigenomic and Transcriptomic Dynamics During Human Heart Organogenesis. PMID:32772801
A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis. PMID:32769986
Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. PMID:32767738
The regulatory genome constrains protein sequence evolution: implications for the search for disease-associated genes. PMID:32765967
Characterizing Extracellular Vesicles and Their Diverse RNA Contents. PMID:32765582
Large-scale informatic analysis to algorithmically identify blood biomarkers of neurological damage. PMID:32764143
Integration of GWAS Summary Statistics and Gene Expression Reveals Target Cell Types Underlying Kidney Function Traits. PMID:32764137
The RNA-binding protein SERBP1 functions as a novel oncogenic factor in glioblastoma by bridging cancer metabolism and epigenetic regulation. PMID:32762776
ROS1-dependent cancers - biology, diagnostics and therapeutics. PMID:32760015
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. PMID:32753734
Effect of 6p21 region on lung function is modified by smoking: a genome-wide interaction study. PMID:32753590
Identification of circRNA-lncRNA-miRNA-mRNA Competitive Endogenous RNA Network as Novel Prognostic Markers for Acute Myeloid Leukemia. PMID:32751923
COVID-19-Related Coagulopathy-Is Transferrin a Missing Link? PMID:32751741
Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism. PMID:32747698
GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson's disease: a two-cohort case-control study. PMID:32746945
Fine-mapping genetic associations. PMID:32744321
Increased protein propionylation contributes to mitochondrial dysfunction in liver cells and fibroblasts, but not in myotubes. PMID:32740932
Blockade of the Short Form of Prolactin Receptor Induces FOXO3a/EIF-4EBP1-Mediated Cell Death in Uterine Cancer. PMID:32737156
Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution. PMID:32733828
Psychiatric comorbidities in Asperger syndrome are related with polygenic overlap and differ from other Autism subtypes. PMID:32732888
Investigation of genetically regulated gene expression and response to treatment in rheumatoid arthritis highlights an association between IL18RAP expression and treatment response. PMID:32732242
Desaturase Activity and the Risk of Type 2 Diabetes and Coronary Artery Disease: A Mendelian Randomization Study. PMID:32731631
Genome-wide DNA methylation differences in nucleus accumbens of smokers vs. nonsmokers. PMID:32731254
An atlas of dynamic chromatin landscapes in mouse fetal development. PMID:32728240
Detecting sample swaps in diverse NGS data types using linkage disequilibrium. PMID:32728101
RADAR: annotation and prioritization of variants in the post-transcriptional regulome of RNA-binding proteins. PMID:32727537
Comprehensive Analysis of LincRNAs in Classical and Basal-Like Subtypes of Pancreatic Cancer. PMID:32727085
Mining the prognostic significance of the GINS2 gene in human breast cancer using bioinformatics analysis. PMID:32724372
Insights into genetic variants associated with NASH-fibrosis from metabolite profiling. PMID:32720691
Functional Genetic Polymorphisms in the IL1RL1-IL18R1 Region Confer Risk for Ocular Behçet's Disease in a Chinese Han Population. PMID:32719716
Multi-omic meta-analysis identifies functional signatures of airway microbiome in chronic obstructive pulmonary disease. PMID:32719402
Genetics of Atrial Fibrillation in 2020: GWAS, Genome Sequencing, Polygenic Risk, and Beyond. PMID:32716721
Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas. PMID:32703790
Evaluation of genetic susceptibility of common variants in SOX9 in patients with congenital talipes equinovarus in the Han Chinese population. PMID:32703248
Interactome of SARS-CoV-2 / nCoV19 modulated host proteins with computationally predicted PPIs. PMID:32702714
X chromosome dosage of histone demethylase KDM5C determines sex differences in adiposity. PMID:32701509
Genetic variation in Charcot-Marie-Tooth genes contributes to sensitivity to paclitaxel-induced peripheral neuropathy. PMID:32700628
An enhanced machine learning tool for cis-eQTL mapping with regularization and confounder adjustments. PMID:32700329
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome. PMID:32693407
Investigating asthma heterogeneity through shared and distinct genetics: Insights from genome-wide cross-trait analysis. PMID:32693092
Using l-Carnitine as a Pharmacologic Probe of the Interpatient and Metabolic Variability of Sepsis. PMID:32688453
Comprehensive analysis of the expression of sodium/potassium-ATPase α subunits and prognosis of ovarian serous cystadenocarcinoma. PMID:32684846
An information-theoretic approach for measuring the distance of organ tissue samples using their transcriptomic signatures. PMID:32683449
Gene-environment interaction with smoking for increased non-muscle-invasive bladder cancer tumor size. PMID:32676417
WTAP Gene Variants Confer Hepatoblastoma Susceptibility: A Seven-Center Case-Control Study. PMID:32671187
Integrated Analysis of DEAD-Box Helicase 56: A Potential Oncogene in Osteosarcoma. PMID:32671031
Brainstem Organoids From Human Pluripotent Stem Cells. PMID:32670003
NetExtractor: Extracting a Cerebellar Tissue Gene Regulatory Network Using Differentially Expressed High Mutual Information Binary RNA Profiles. PMID:32665353
Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches. PMID:32664994
SARS-CoV-2 induces transcriptional signatures in human lung epithelial cells that promote lung fibrosis. PMID:32664949
HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis. PMID:32660516
REINDEER: efficient indexing of k-mer presence and abundance in sequencing datasets. PMID:32657392
Harnessing endophenotypes and network medicine for Alzheimer's drug repurposing. PMID:32656864
KTN1 Variants Underlying Putamen Gray Matter Volumes and Parkinson's Disease. PMID:32655362
SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population. PMID:32652860
Non-Coding RNA Editing in Cancer Pathogenesis. PMID:32650588
SLIT3 deficiency attenuates pressure overload-induced cardiac fibrosis and remodeling. PMID:32644051
Systematic profiling of ACE2 expression in diverse physiological and pathological conditions for COVID-19/SARS-CoV-2. PMID:32639084
Higher Germline Mutagenesis of Genes with Stronger Testis Expressions Refutes the Transcriptional Scanning Hypothesis. PMID:32638015
A mechanistic model and therapeutic interventions for COVID-19 involving a RAS-mediated bradykinin storm. PMID:32633718
Facets of individual-specific health signatures determined from longitudinal plasma proteome profiling. PMID:32629387
Mood-Stabilizing Antiepileptic Treatment Response in Bipolar Disorder: A Genome-Wide Association Study. PMID:32627186
Immune Cell Associations with Cancer Risk. PMID:32622267
Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers. PMID:32620889
Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders. PMID:32620757
Prediction of Nephrotoxicity Associated With Cisplatin-Based Chemotherapy in Testicular Cancer Patients. PMID:32617516
The transcriptional signature associated with human motile cilia. PMID:32616903
An expanded repertoire of intensity-dependent exercise-responsive plasma proteins tied to loci of human disease risk. PMID:32616758
Identification of Key Differentially Expressed Transcription Factors in Glioblastoma. PMID:32612655
A novel selective autophagy receptor, CCDC50, delivers K63 polyubiquitination-activated RIG-I/MDA5 for degradation during viral infection. PMID:32612200
MCTS1 Directly Binds to TWF1 and Synergistically Modulate Cyclin D1 and C-Myc Translation in Luminal A/B Breast Cancer Cells. PMID:32606753
The Roles of Long Noncoding RNAs HNF1α-AS1 and HNF4α-AS1 in Drug Metabolism and Human Diseases. PMID:32599764
Comprehensive analysis of the effect of rs2295080 and rs2536 polymorphisms within the mTOR gene on cancer risk. PMID:32597485
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. PMID:32596782
Prioritization of causal genes for coronary artery disease based on cumulative evidence from experimental and in silico studies. PMID:32591598
Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits. PMID:32591342
Analysis of genetically independent phenotypes identifies shared genetic factors associated with chronic musculoskeletal pain conditions. PMID:32587327
Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer. PMID:32581250
The Effect of Common Variants in SLC44A2 on the Contribution to the Risk of Deep Cein Thrombosis after Orthopedic Surgery. PMID:32581188
Allele-specific expression is widespread in Bos indicus muscle and affects meat quality candidate genes. PMID:32576896
Distinct subtypes of polycystic ovary syndrome with novel genetic associations: An unsupervised, phenotypic clustering analysis. PMID:32574161
Genome-wide association study of rate of cognitive decline in Alzheimer's disease patients identifies novel genes and pathways. PMID:32573913
SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome. PMID:32572201
Identification of therapeutic targets from genetic association studies using hierarchical component analysis. PMID:32565911
Genomewide Meta-Analysis Validates a Role for S1PR1 in Microtubule Targeting Agent-Induced Sensory Peripheral Neuropathy. PMID:32562552
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome. PMID:32554042
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics. PMID:32552793
VitiVar: A locus specific database of vitiligo associated genes and variations. PMID:32550548
Transcription Factor KLF14 and Metabolic Syndrome. PMID:32548128
Genomic Survey of Tyrosine Kinases Repertoire in Electrophorus electricus With an Emphasis on Evolutionary Conservation and Diversification. PMID:32546936
Quantitative Analysis of Differential Expression of HOX Genes in Multiple Cancers. PMID:32545894
RNA Binding Proteins as Drivers and Therapeutic Target Candidates in Pancreatic Ductal Adenocarcinoma. PMID:32545414
From Genome-Wide Association Studies to Cardiac Electrophysiology: Through the Maze of Biological Complexity. PMID:32536879
Insulin receptor substrate in brain-enriched exosomes in subjects with major depression: on the path of creation of biosignatures of central insulin resistance. PMID:32536688
CYP2J2 Molecular Recognition: A New Axis for Therapeutic Design. PMID:32534953
Mediator complex subunit 16 is down-regulated in papillary thyroid cancer, leading to increased transforming growth factor-β signaling and radioiodine resistance. PMID:32532820
Editorial: Non-Coding RNAs and Human Diseases. PMID:32528532
Whole Blood DNA Methylation Signatures of Diet Are Associated With Cardiovascular Disease Risk Factors and All-Cause Mortality. PMID:32525743
Transcriptional and imaging-genetic association of cortical interneurons, brain function, and schizophrenia risk. PMID:32514083
Low baseline pulmonary levels of cytotoxic lymphocytes as a predisposing risk factor for severe COVID-19. PMID:32511391
Prefrontal cortex eQTLs/mQTLs enriched in genetic variants associated with alcohol use disorder and other diseases. PMID:32496132
A tissue level atlas of the healthy human virome. PMID:32493363
UBE2T promotes glioblastoma invasion and migration via stabilizing GRP78 and regulating EMT. PMID:32491994
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. PMID:32487729
RNA Sequencing-Based Identification of Ganglioside GD2-Positive Cancer Phenotype. PMID:32486168
From GWAS to Function: Using Functional Genomics to Identify the Mechanisms Underlying Complex Diseases. PMID:32477401
Interrogation of the Microenvironmental Landscape in Brain Tumors Reveals Disease-Specific Alterations of Immune Cells. PMID:32470396
Genetic Analysis Reveals a Significant Contribution of CES1 to Prostate Cancer Progression in Taiwanese Men. PMID:32466188
Prognostic value of prostaglandin I2 synthase and its correlation with tumor-infiltrating immune cells in lung cancer, ovarian cancer, and gastric cancer. PMID:32463792
Genetic Architecture and Molecular Neuropathology of Human Cocaine Addiction. PMID:32457073
Comprehensive Analysis of Tumor-Infiltrating Immune Cells and Relevant Therapeutic Strategy in Esophageal Cancer. PMID:32454908
Common variants in LTBP3 gene contributed to the risk of hip osteoarthritis in Han Chinese population. PMID:32452514
SNHG7 is a lncRNA oncogene controlled by Insulin-like Growth Factor signaling through a negative feedback loop to tightly regulate proliferation. PMID:32444795
Systems Genetics in Human Endothelial Cells Identifies Non-coding Variants Modifying Enhancers, Expression, and Complex Disease Traits. PMID:32442411
Virus-induced genetics revealed by multidimensional precision medicine transcriptional workflow applicable to COVID-19. PMID:32437232
Integration of transcriptome-wide association study and messenger RNA expression profile to identify genes associated with osteoarthritis. PMID:32435465
Differential Glucocorticoid-Dependent Regulation and Function of the ERRFI1 Gene in Triple-Negative Breast Cancer. PMID:32432675
CDH6 and HAGH protein levels in plasma associate with Alzheimer's disease in APOE ε4 carriers. PMID:32427856
Cigarette Smoke Exposure and Inflammatory Signaling Increase the Expression of the SARS-CoV-2 Receptor ACE2 in the Respiratory Tract. PMID:32425701
Determinants of transcription factor regulatory range. PMID:32424124
Closing in on Mechanisms of Open Neural Tube Defects. PMID:32423763
B-cell lymphoma 2 family genes show a molecular pattern of spatiotemporal heterogeneity in gynaecologic and breast cancer. PMID:32419250
LINC00261 Is Differentially Expressed in Pancreatic Cancer Subtypes and Regulates a Pro-Epithelial Cell Identity. PMID:32414223
Minding the gap in HIV host genetics: opportunities and challenges. PMID:32409920
Genome-Wide Association Studies of CKD and Related Traits. PMID:32409295
Combining Bioinformatics and Experiments to Identify CREB1 as a Key Regulator in Senescent Granulosa Cells. PMID:32403258
Revealing new therapeutic opportunities through drug target prediction: a class imbalance-tolerant machine learning approach. PMID:32399556
Diagnostic, progressive and prognostic performance of m6A methylation RNA regulators in lung adenocarcinoma. PMID:32398949
Roles of HOTAIR in lung cancer susceptibility and prognosis. PMID:32394637
Compressing gene expression data using multiple latent space dimensionalities learns complementary biological representations. PMID:32393369
Investigation of the adolescent female breast transcriptome and the impact of obesity. PMID:32393308
Twelve New Genomic Loci Associated With Bone Mineral Density. PMID:32390946
Expression of yhwaz and gene regulation network in hepatocellular carcinoma. PMID:32382342
Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. PMID:32382064
The effect of interleukin 10 polymorphisms on breast cancer susceptibility in Han women in Shaanxi Province. PMID:32380517
Genome-wide association study of genetic variants related to anthracycline-induced cardiotoxicity in early breast cancer. PMID:32378780
Hypothalamic estrogen receptor alpha establishes a sexually dimorphic regulatory node of energy expenditure. PMID:32377634
The Integrated Landscape of Biological Candidate Causal Genes in Coronary Artery Disease. PMID:32373157
Ancient genes can be served as pan-cancer diagnostic and prognostic biomarkers. PMID:32368859
Bayesian network analysis of plasma microRNA sequencing data in patients with venous thrombosis. PMID:32368197
Genome-wide association study of emotional empathy in children. PMID:32366958
Mapping DNA interaction landscapes in psoriasis susceptibility loci highlights KLF4 as a target gene in 9q31. PMID:32366252
Amantadine disrupts lysosomal gene expression: A hypothesis for COVID19 treatment. PMID:32361028
Uptake of high-density lipoprotein by scavenger receptor class B type 1 is associated with prostate cancer proliferation and tumor progression in mice. PMID:32358065
The MUC6/AP2A2 Locus and Its Relevance to Alzheimer's Disease: A Review. PMID:32357373
Investigating the effect of dependence between conditions with Bayesian Linear Mixed Models for motif activity analysis. PMID:32357166
TRP Channels as Emerging Therapeutic Targets for Neurodegenerative Diseases. PMID:32351395
Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction. PMID:32349771
Genome-Wide Association Study of Diabetogenic Adipose Morphology in the GENetics of Adipocyte Lipolysis (GENiAL) Cohort. PMID:32349335
Common genetic variation in obesity, lipid transfer genes and risk of Metabolic Syndrome: Results from IDEFICS/I.Family study and meta-analysis. PMID:32346024
Widespread and tissue-specific expression of endogenous retroelements in human somatic tissues. PMID:32345368
Genome-Wide Association Study Identifies Genetic Associations with Perceived Age. PMID:32339537
A genome wide association study for lung function in the Korean population using an exome array. PMID:32336055
Synergistic activation of NF-κB by TNFAIP3 (A20) reduction and UBE2L3 (UBCH7) augment that synergistically elevate lupus risk. PMID:32334614
Editorial: Artificial Intelligence Bioinformatics: Development and Application of Tools for Omics and Inter-Omics Studies. PMID:32328085
Challenges of Immune Response Diversity in the Human Population Concerning New Tuberculosis Diagnostics, Therapies, and Vaccines. PMID:32322562
Consistent RNA sequencing contamination in GTEx and other data sets. PMID:32321923
Admixture mapping identifies genetic regions associated with blood pressure phenotypes in African Americans. PMID:32315356
Genome-wide association study of Buruli ulcer in rural Benin highlights role of two LncRNAs and the autophagy pathway. PMID:32313116
Sex-Specific Role for the Long Non-coding RNA LINC00473 in Depression. PMID:32304628
Germline Elongator mutations in Sonic Hedgehog medulloblastoma. PMID:32296180
Telomere Maintenance Genes are associated with Type 2 Diabetes Susceptibility in Northwest Indian Population Group. PMID:32296102
Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma. PMID:32296059
A high-content RNAi screen reveals multiple roles for long noncoding RNAs in cell division. PMID:32296040
Integrated querying and version control of context-specific biological networks. PMID:32294194
ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping. PMID:32284880
Non-random sampling leads to biased estimates of transcriptome association. PMID:32277087
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
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. PMID:32275884
Ancestrally Duplicated Conserved Noncoding Element Suggests Dual Regulatory Roles of HOTAIR in cis and trans. PMID:32268280
Systems Biochemistry Approaches to Defining Mitochondrial Protein Function. PMID:32268114
A multidimensional systems biology analysis of cellular senescence in aging and disease. PMID:32264951
Amygdala 5-HTT Gene Network Moderates the Effects of Postnatal Adversity on Attention Problems: Anatomo-Functional Correlation and Epigenetic Changes. PMID:32256307
Integrative analyses indicate an association between ITIH3 polymorphisms with autism spectrum disorder. PMID:32251353
MI-MAAP: marker informativeness for multi-ancestry admixed populations. PMID:32245404
Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data. PMID:32243819
Comprehensive functional annotation of susceptibility variants associated with asthma. PMID:32240371
Two novel pleiotropic loci associated with osteoporosis and abdominal obesity. PMID:32239398
A Systematic Analysis of Interactions between Environmental Risk Factors and Genetic Variation in Susceptibility to Colorectal Cancer. PMID:32238408
Defining an embryonal rhabdomyosarcoma endotype. PMID:32238403
DNA methylation profiling identifies a high effect genetic variant for lipoprotein(a) levels. PMID:32237968
An Integrated Microarray Analysis Reveals Significant Diagnostic and Prognostic Biomarkers in Pancreatic Cancer. PMID:32235821
Multiomics Evaluation of Gastrointestinal and Other Clinical Characteristics of COVID-19. PMID:32234303
Genetic variants in PDSS1 and SLC16A6 of the ketone body metabolic pathway predict cutaneous melanoma-specific survival. PMID:32232919
Discovery of Pancreatic Ductal Adenocarcinoma-Related Aberrant Glycosylations: A Multilateral Approach of Lectin Microarray-Based Tissue Glycomic Profiling With Public Transcriptomic Datasets. PMID:32232009
Minimal phenotyping yields genome-wide association signals of low specificity for major depression. PMID:32231276
Impacts of RETN genetic polymorphism on breast cancer development. PMID:32226495
DNA methylation and cis-regulation of gene expression by prostate cancer risk SNPs. PMID:32226005
Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq. PMID:32225167
Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases. PMID:32223758
Analysis of mitochondrial m1A/G RNA modification reveals links to nuclear genetic variants and associated disease processes. PMID:32221480
Low steady-state oxidative stress inhibits adipogenesis by altering mitochondrial dynamics and decreasing cellular respiration. PMID:32208164
Standard machine learning approaches outperform deep representation learning on phenotype prediction from transcriptomics data. PMID:32197580
Integrating Mouse and Human Genetic Data to Move beyond GWAS and Identify Causal Genes in Cholesterol Metabolism. PMID:32197071
Replication of FTO Gene associated with lean mass in a Meta-Analysis of Genome-Wide Association Studies. PMID:32193455
KTN1 variants and risk for attention deficit hyperactivity disorder. PMID:32190980
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. PMID:32183904
A Multi-Omics Approach to Liver Diseases: Integration of Single Nuclei Transcriptomics with Proteomics and HiCap Bulk Data in Human Liver. PMID:32181701
Genome-wide association study of adipocyte lipolysis in the GENetics of adipocyte lipolysis (GENiAL) cohort. PMID:32180562
Toward Development of the Male Pill: A Decade of Potential Non-hormonal Contraceptive Targets. PMID:32161754
Integrated proteogenomic deep sequencing and analytics accurately identify non-canonical peptides in tumor immunopeptidomes. PMID:32157095
Transcriptomic Analyses for Identification and Prioritization of Genes Associated With Alzheimer's Disease in Humans. PMID:32154224
A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness. PMID:32152699
Association of 3p27.1 Variants with Whole Body Lean Mass Identified by a Genome-wide Association Study. PMID:32152362
Transcriptome-wide piRNA profiling in human brains for aging genetic factors. PMID:32149191
Genome-wide meta-analysis identified novel variant associated with hallux valgus in Caucasians. PMID:32131869
Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk. PMID:32128252
Dissecting the Tumor-Immune Landscape in Chimeric Antigen Receptor T-cell Therapy: Key Challenges and Opportunities for a Systems Immunology Approach. PMID:32127393
Genomic Variants of Cytarabine Sensitivity Associated with Treatment-Related Mortality in Pediatric AML: A Report from the Children's Oncology Group. PMID:32122921
Inferring lncRNA Functional Similarity Based on Integrating Heterogeneous Network Data. PMID:32117916
Tumor-Specific T Cell Activation in Malignant Brain Tumors. PMID:32117316
Proton-sensing G protein-coupled receptors: detectors of tumor acidosis and candidate drug targets. PMID:32116003
Significant, replicable, and functional associations between KTN1 variants and alcohol and drug codependence. PMID:32115811
Genetic Association Analysis of Cell Cycle Regulators Reveals YWHAZ Has Prognostic Significance in Prostate Cancer. PMID:32108043
Data libraries - the missing element for modeling biological systems. PMID:32100391
Long non-coding RNAs in development and disease: conservation to mechanisms. PMID:32100288
Technological advances and computational approaches for alternative splicing analysis in single cells. PMID:32099593
Identification of Novel lncRNA Markers in Glioblastoma Multiforme and Their Clinical Significance: A Study Based on Multiple Sequencing Data. PMID:32099410
Pan-cancer mapping of differential protein-protein interactions. PMID:32094374
GenEpi: gene-based epistasis discovery using machine learning. PMID:32093643
Pathway-guided analysis identifies Myc-dependent alternative pre-mRNA splicing in aggressive prostate cancers. PMID:32086391
PVT1 Long Non-coding RNA in Gastrointestinal Cancer. PMID:32083000
Recounting the FANTOM CAGE-Associated Transcriptome. PMID:32079618
A whole-tissue RNA-seq toolkit for organism-wide studies of gene expression with PME-seq. PMID:32076350
Genome-wide DNA methylation meta-analysis in the brains of suicide completers. PMID:32075955
Effects of Coffee Intake on Dyslipidemia Risk According to Genetic Variants in the ADORA Gene Family among Korean Adults. PMID:32075205
Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage. PMID:32071206
MicroRNA 27a Is a Key Modulator of Cholesterol Biosynthesis. PMID:32071155
Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families. PMID:32066727
The pan-cancer landscape of prognostic germline variants in 10,582 patients. PMID:32066500
Single-cell analysis reveals different age-related somatic mutation profiles between stem and differentiated cells in human liver. PMID:32064334
Tumor suppressor genes and allele-specific expression: mechanisms and significance. PMID:32064050
Analysis of Ras-effector interaction competition in large intestine and colorectal cancer context. PMID:32057289
Epigenetic specifications of host chromosome docking sites for latent Epstein-Barr virus. PMID:32054837
Pan-tissue transcriptome analysis of long noncoding RNAs in the American beaver Castor canadensis. PMID:32050897
Discovery, expression, cellular localization, and molecular properties of a novel, alternative spliced HP1γ isoform, lacking the chromoshadow domain. PMID:32027651
Genomic basis for RNA alterations in cancer. PMID:32025019
Integrative pathway enrichment analysis of multivariate omics data. PMID:32024846
Multi-dimensional omics characterization in glioblastoma identifies the purity-associated pattern and prognostic gene signatures. PMID:32021566
A conserved intratumoral regulatory T cell signature identifies 4-1BB as a pan-cancer target. PMID:32015231
Limited utility of qPCR-based detection of tumor-specific circulating mRNAs in whole blood from clear cell renal cell carcinoma patients. PMID:32013938
Spatiotemporal contact between peroxisomes and lipid droplets regulates fasting-induced lipolysis via PEX5. PMID:31996685
m6Acorr: an online tool for the correction and comparison of m6A methylation profiles. PMID:31996134
IL-4 controls activated neutrophil FcγR2b expression and migration into inflamed joints. PMID:31980518
Dipeptidyl peptidase-4 is increased in the abdominal aortic aneurysm vessel wall and is associated with aneurysm disease processes. PMID:31971988
Proneural and mesenchymal glioma stem cells display major differences in splicing and lncRNA profiles. PMID:31969990
The landscape of chimeric RNAs in non-diseased tissues and cells. PMID:31965184
Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects. PMID:31964908
Using regulatory variants to detect gene-gene interactions identifies networks of genes linked to cell immortalisation. PMID:31953380
Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease. PMID:31947619
Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies. PMID:31932796
Longitudinal epigenome-wide association studies of three male military cohorts reveal multiple CpG sites associated with post-traumatic stress disorder. PMID:31931860
The promise and reality of therapeutic discovery from large cohorts. PMID:31929188
O-GlcNAc transferase inhibits visceral fat lipolysis and promotes diet-induced obesity. PMID:31924761
Effects of chronic intermittent ethanol exposure and withdrawal on neuroblastoma cell transcriptome. PMID:31923563
Genetic Variation in CCL5 Signaling Genes and Triple Negative Breast Cancer: Susceptibility and Prognosis Implications. PMID:31921621
Exonic Variants in Aging-Related Genes Are Predictive of Phenotypic Aging Status. PMID:31921313
Exome Sequencing Identifies Susceptibility Loci for Sarcoidosis Prognosis. PMID:31921204
A Cross-Species Systems Genetics Analysis Links APBB1IP as a Candidate for Schizophrenia and Prepulse Inhibition. PMID:31920576
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure. PMID:31919418
The dichotomous role of epiregulin in pain. PMID:31917773
Genetic deletion of gpr27 alters acylcarnitine metabolism, insulin sensitivity, and glucose homeostasis in zebrafish. PMID:31914600
Common variants in the COL2A1 gene are associated with lattice degeneration of the retina in a Japanese population. PMID:31908402
Harnessing big 'omics' data and AI for drug discovery in hepatocellular carcinoma. PMID:31900465
A variant near DHCR24 associates with microstructural properties of white matter and peripheral lipid metabolism in adolescents. PMID:31900429
CaSpER identifies and visualizes CNV events by integrative analysis of single-cell or bulk RNA-sequencing data. PMID:31900397
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. PMID:31896777
scRNA-seq assessment of the human lung, spleen, and esophagus tissue stability after cold preservation. PMID:31892341
A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans. PMID:31891604
Enhancer jungles establish robust tissue-specific regulatory control in the human genome. PMID:31887344
Few SINEs of life: Alu elements have little evidence for biological relevance despite elevated translation. PMID:31886458
Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers. PMID:31880413
Psychotropic drug-induced genetic-epigenetic modulation of CRTC1 gene is associated with early weight gain in a prospective study of psychiatric patients. PMID:31878957
Identification of Regulatory Modules That Stratify Lupus Disease Mechanism through Integrating Multi-Omics Data. PMID:31877408
Variant in ERAP1 promoter region is associated with low expression in a patient with a Behçet-like MHC-I-opathy. PMID:31873220
A GWAS approach identifies Dapp1 as a determinant of air pollution-induced airway hyperreactivity. PMID:31869344
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. PMID:31866047
Influence of Genetic Variation in PDE3A on Endothelial Function and Stroke. PMID:31865795
Lipoprotein signatures of cholesteryl ester transfer protein and HMG-CoA reductase inhibition. PMID:31860674
Tissue-Resident Memory T Cells Mediate Immune Homeostasis in the Human Pancreas through the PD-1/PD-L1 Pathway. PMID:31851923
Expression Quantitative Trait Loci in Equine Skeletal Muscle Reveals Heritable Variation in Metabolism and the Training Responsive Transcriptome. PMID:31850069
From man to fly - convergent evidence links FBXO25 to ADHD and comorbid psychiatric phenotypes. PMID:31849056
Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset. PMID:31844111
Polymorphisms in interferon pathway genes and risk of Mycobacterium tuberculosis infection in contacts of tuberculosis cases in Brazil. PMID:31843671
The Genetic Architecture of Gliomagenesis-Genetic Risk Variants Linked to Specific Molecular Subtypes. PMID:31842352
High-resolution chromosomal microarray analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability. PMID:31838600
1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes. PMID:31836590
Leveraging allelic imbalance to refine fine-mapping for eQTL studies. PMID:31834882
Using mechanistic models for the clinical interpretation of complex genomic variation. PMID:31831811
QuantSeq. 3' Sequencing combined with Salmon provides a fast, reliable approach for high throughput RNA expression analysis. PMID:31827207
Genetic variation in EPHA contributes to sensitivity to paclitaxel-induced peripheral neuropathy. PMID:31823378
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. PMID:31820119
The therapeutic potential of targeting tryptophan catabolism in cancer. PMID:31819194
A Bioinformatic Approach for the Identification of Molecular Determinants of Resistance/Sensitivity to Cancer Thermotherapy. PMID:31814876
Deep learning of pharmacogenomics resources: moving towards precision oncology. PMID:31813953
Brain Banks Spur New Frontiers in Neuropsychiatric Research and Strategies for Analysis and Validation. PMID:31811942
Role of Systemic Lupus Erythematosus Risk Variants With Opposing Functional Effects as a Driver of Hypomorphic Expression of TNIP1 and Other Genes Within a Three-Dimensional Chromatin Network. PMID:31804013
Carotid Intima-Media Thickness: Novel Loci, Sex-Specific Effects, and Genetic Correlations With Obesity and Glucometabolic Traits in UK Biobank. PMID:31801372
Nucleotide composition affects codon usage toward the 3'-end. PMID:31800603
Hepatocyte gene expression and DNA methylation as ancestry-dependent mechanisms in African Americans. PMID:31798965
Novel genome-wide associations for anhedonia, genetic correlation with psychiatric disorders, and polygenic association with brain structure. PMID:31797917
Secernin-1 is a novel phosphorylated tau binding protein that accumulates in Alzheimer's disease and not in other tauopathies. PMID:31796108
Integrating Clinical Data and Imputed Transcriptome from GWAS to Uncover Complex Disease Subtypes: Applications in Psychiatry and Cardiology. PMID:31785786
Prognostic Value of CD1B in Localised Prostate Cancer. PMID:31783478
A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect. PMID:31782267
Translated Long Non-Coding Ribonucleic Acid ZFAS1 Promotes Cancer Cell Migration by Elevating Reactive Oxygen Species Production in Hepatocellular Carcinoma. PMID:31781169
Gene Expression Value Prediction Based on XGBoost Algorithm. PMID:31781160
Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing. PMID:31779139
TGFB1-Mediated Gliosis in Multiple Sclerosis Spinal Cords Is Favored by the Regionalized Expression of HOXA5 and the Age-Dependent Decline in Androgen Receptor Ligands. PMID:31779094
Association of Myoinositol Transporters with Schizophrenia and Bipolar Disorder: Evidence from Human and Animal Studies. PMID:31768373
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. PMID:31768050
Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk. PMID:31767839
Evolutionarily conserved regulation of sleep by epidermal growth factor receptor signaling. PMID:31763451
Two functional variants at 6p21.1 were associated with lean mass. PMID:31757224
Impact of polymorphic transposable elements on transcription in lymphoblastoid cell lines from public data. PMID:31757210
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia. PMID:31755958
Personalised analytics for rare disease diagnostics. PMID:31754101
Alzheimer Disease Pathology-Associated Polymorphism in a Complex Variable Number of Tandem Repeat Region Within the MUC6 Gene, Near the AP2A2 Gene. PMID:31748784
Systematic screening identifies a 2-gene signature as a high-potential prognostic marker of undifferentiated pleomorphic sarcoma/myxofibrosarcoma. PMID:31742892
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family. PMID:31741143
Comprehensive investigation of key biomarkers and pathways in hepatitis B virus-related hepatocellular carcinoma. PMID:31737106
HERES, a lncRNA that regulates canonical and noncanonical Wnt signaling pathways via interaction with EZH2. PMID:31732666
A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity. PMID:31731663
Association of Regulatory Genetic Variants for Protein Kinase Cα with Mortality and Drug Efficacy in Patients with Heart Failure. PMID:31728800
Multiple genome analyses reveal key genes in Vitamin C and Vitamin D synthesis and transport pathways are shared. PMID:31727908
A Simple RNA Target Capture NGS Strategy for Fusion Genes Assessment in the Diagnostics of Pediatric B-cell Acute Lymphoblastic Leukemia. PMID:31723839
Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration. PMID:31719535
SNP eQTL status and eQTL density in the adjacent region of the SNP are associated with its statistical significance in GWA studies. PMID:31718536
COPD-dependent effects of genetic variation in key inflammation pathway genes on lung cancer risk. PMID:31709530
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. PMID:31701892
Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits. PMID:31697830
Characterization of HMGB1/2 Interactome in Prostate Cancer by Yeast Two Hybrid Approach: Potential Pathobiological Implications. PMID:31694235
Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design. PMID:31693904
Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution. PMID:31691812
A non-coding genetic variant associated with abdominal aortic aneurysm alters ERG gene regulation. PMID:31691800
ENST00000489707.5 Is a Preferred Alternative Splicing Variant of PTK7 in Adrenocortical Cancer and Shows Potential Prognostic Value. PMID:31689287
Quantile regression for challenging cases of eQTL mapping. PMID:31688892
Condemned or Not to Die? Gene Polymorphisms Associated With Cell Death in Pemphigus Foliaceus. PMID:31681304
Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease. PMID:31680973
EPD in 2020: enhanced data visualization and extension to ncRNA promoters. PMID:31680159
Advances in asthma and allergic disease genetics: Is bigger always better? PMID:31677964
Comparison of whole blood and spleen transcriptional signatures over the course of an experimental malaria infection. PMID:31676877
Semi-Supervised Topological Analysis for Elucidating Hidden Structures in High-Dimensional Transcriptome Datasets. PMID:31675340
Meta-Analysis of Polymyositis and Dermatomyositis Microarray Data Reveals Novel Genetic Biomarkers. PMID:31671645
Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level. PMID:31668705
Altered chromosomal topology drives oncogenic programs in SDH-deficient GISTs. PMID:31666694
A comparison of machine learning classifiers for dementia with Lewy bodies using miRNA expression data. PMID:31666070
EAGLE: An algorithm that utilizes a small number of genomic features to predict tissue/cell type-specific enhancer-gene interactions. PMID:31665135
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. PMID:31660661
Application of Computational Biology to Decode Brain Transcriptomes. PMID:31655213
Detection and Quantification of GPCR mRNA: An Assessment and Implications of Data from High-Content Methods. PMID:31646252
Clinical implications of recent advances in primary open-angle glaucoma genetics. PMID:31645673
Detecting multiple differentially methylated CpG sites and regions related to dimensional psychopathology in youths. PMID:31639064
N-acetylaspartate availability is essential for juvenile survival on fat-free diet and determines metabolic health. PMID:31638418
Integrative Analysis Reveals Across-Cancer Expression Patterns and Clinical Relevance of Ribonucleotide Reductase in Human Cancers. PMID:31637211
Genetic architecture of subcortical brain structures in 38,851 individuals. PMID:31636452
Association Between Genetic Polymorphisms In TYMS And Glioma Risk In Chinese Patients: A Case-Control Study. PMID:31632074
Transcribed B lymphocyte genes and multiple sclerosis risk genes are underrepresented in Epstein-Barr Virus hypomethylated regions. PMID:31619767
A pharmacogenetic risk score for the evaluation of major depression severity under treatment with antidepressants. PMID:31617956
MUDENG Expression Profiling in Cohorts and Brain Tumor Biospecimens to Evaluate Its Role in Cancer. PMID:31616474
Distinct molecular etiologies of male and female hepatocellular carcinoma. PMID:31615477
Biological Network Approaches and Applications in Rare Disease Studies. PMID:31614842
Dectin-1 genetic deficiency predicts chronic lung allograft dysfunction and death. PMID:31613800
Candidate Genes and MiRNAs Linked to the Inverse Relationship Between Cancer and Alzheimer's Disease: Insights From Data Mining and Enrichment Analysis. PMID:31608105
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes. PMID:31607598
Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations. PMID:31607513
Advancing Pan-cancer Gene Expression Survial Analysis by Inclusion of Non-coding RNA. PMID:31607216
Rs2293871 regulates HTRA1 expression and affects cerebral small vessel stroke and Alzheimer's disease. PMID:31603204
A cellular and bioinformatics analysis of the SENP1 SUMO isopeptidase in pancreatic cancer. PMID:31602319
Genetic regulatory variation in populations informs transcriptome analysis in rare disease. PMID:31601707
EuRBPDB: a comprehensive resource for annotation, functional and oncological investigation of eukaryotic RNA binding proteins (RBPs). PMID:31598693
KnockTF: a comprehensive human gene expression profile database with knockdown/knockout of transcription factors. PMID:31598675
Inherited Chromosomally Integrated Human Herpesvirus 6 Demonstrates Tissue-Specific RNA Expression In Vivo That Correlates with an Increased Antibody Immune Response. PMID:31597766
Bayesian multivariate reanalysis of large genetic studies identifies many new associations. PMID:31596850
Adaptive penalization in high-dimensional regression and classification with external covariates using variational Bayes. PMID:31596468
Compendiums of cancer transcriptomes for machine learning applications. PMID:31594947
Novel Lipid Long Intervening Noncoding RNA, Oligodendrocyte Maturation-Associated Long Intergenic Noncoding RNA, Regulates the Liver Steatosis Gene Stearoyl-Coenzyme A Desaturase As an Enhancer RNA. PMID:31592021
Retrospective Association Analysis of Longitudinal Binary Traits Identifies Important Loci and Pathways in Cocaine Use. PMID:31591132
Race, Natriuretic Peptides, and High-Carbohydrate Challenge: A Clinical Trial. PMID:31588864
Exploring genetic variation that influences brain methylation in attention-deficit/hyperactivity disorder. PMID:31582733
ID1 Mediates Escape from TGFβ Tumor Suppression in Pancreatic Cancer. PMID:31582374
Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis. PMID:31581148
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. PMID:31578528
A variant of the castor zinc finger 1 (CASZ1) gene is differentially associated with the clinical classification of chronic venous disease. PMID:31570750
The CLN3 gene and protein: What we know. PMID:31568712
12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population. PMID:31562322
Migraine Genetic Variants Influence Cerebral Blood Flow. PMID:31559635
Further Clinical and Molecular Delineation of Xp11.22 Deletion Syndrome: A Case Report. PMID:31555424
Exon1 and -116 C/G Promoter Polymorphism on the X-Box DNA Binding Protein- 1 Gene is not Associated with Breast Cancer among Jordanian Women. PMID:31554371
Genetic associations of perinatal pain and depression. PMID:31552780
Epigenomic Profiling Discovers Trans-lineage SOX2 Partnerships Driving Tumor Heterogeneity in Lung Squamous Cell Carcinoma. PMID:31551362
Appraising the causal relevance of DNA methylation for risk of lung cancer. PMID:31549173
Discovering long noncoding RNA predictors of anticancer drug sensitivity beyond protein-coding genes. PMID:31548386
Inactivation of NF-κB2 (p52) restrains hepatic glucagon response via preserving PDE4B induction. PMID:31541100
Genomic and epigenomic mapping of leptin-responsive neuronal populations involved in body weight regulation. PMID:31535083
Robust and interpretable PAM50 reclassification exhibits survival advantage for myoepithelial and immune phenotypes. PMID:31531391
Genome-wide analysis and functional prediction of the estrogen-regulated transcriptional response in the mouse uterus†. PMID:31511857
Large-scale inference of competing endogenous RNA networks with sparse partial correlation. PMID:31510670
Integrating read-based and population-based phasing for dense and accurate haplotyping of individual genomes. PMID:31510646
Polycystic Ovary Syndrome: Novel and Hub lncRNAs in the Insulin Resistance-Associated lncRNA-mRNA Network. PMID:31507635
The Cancer-Associated Genetic Variant Rs3903072 Modulates Immune Cells in the Tumor Microenvironment. PMID:31507631
Phosphoinositides: Regulators of Nervous System Function in Health and Disease. PMID:31507376
The effect of age on DNA methylation in whole blood among Bangladeshi men and women. PMID:31506065
New insights on human essential genes based on integrated analysis and the construction of the HEGIAP web-based platform. PMID:31504171
SliceIt: A genome-wide resource and visualization tool to design CRISPR/Cas9 screens for editing protein-RNA interaction sites in the human genome. PMID:31494246
Drug repurposing for Alzheimer's disease based on transcriptional profiling of human iPSC-derived cortical neurons. PMID:31492831
A genome-wide association study of cocaine use disorder accounting for phenotypic heterogeneity and gene–environment interaction. PMID:31490055
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. PMID:31488895
Single-cell RNA-seq reveals the invasive trajectory and molecular cascades underlying glioblastoma progression. PMID:31487431
GeneFishing to reconstruct context specific portraits of biological processes. PMID:31484776
A Frameshift Variant in the CHST9 Gene Identified by Family-Based Whole Genome Sequencing Is Associated with Schizophrenia in Chinese Population. PMID:31481703
The 22q11 low copy repeats are characterized by unprecedented size and structural variability. PMID:31481461
Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. PMID:31477735
Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior. PMID:31467194
LITAF (Lipopolysaccharide-Induced Tumor Necrosis Factor) Regulates Cardiac L-Type Calcium Channels by Modulating NEDD (Neural Precursor Cell Expressed Developmentally Downregulated Protein) 4-1 Ubiquitin Ligase. PMID:31462068
The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion. PMID:31456032
Multiple functional variants in the IL1RL1 region are pretransplant markers for risk of GVHD and infection deaths. PMID:31455667
Gastric Normal Adjacent Mucosa Versus Healthy and Cancer Tissues: Distinctive Transcriptomic Profiles and Biological Features. PMID:31454993
Target Genes of Autism Risk Loci in Brain Frontal Cortex. PMID:31447881
Integrative transcriptome imputation reveals tissue-specific and shared biological mechanisms mediating susceptibility to complex traits. PMID:31444360
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
Transcriptome-wide association study of multiple myeloma identifies candidate susceptibility genes. PMID:31429796
A high resolution A-to-I editing map in the mouse identifies editing events controlled by pre-mRNA splicing. PMID:31427386
Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. PMID:31420334
Beyond sequence homology: Cellular biology limits the potential of XIST to act as a miRNA sponge. PMID:31419261
Isoproterenol-Induced Cardiac Diastolic Dysfunction in Mice: A Systems Genetics Analysis. PMID:31417910
A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient. PMID:31414730
GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits. PMID:31409800
The epigenetic factor BORIS (CTCFL) controls the androgen receptor regulatory network in ovarian cancer. PMID:31406110
The interactome of KRAB zinc finger proteins reveals the evolutionary history of their functional diversification. PMID:31403225
Transcriptome variation in human populations and its potential application in forensics. PMID:31401728
Validation of genetic associations with acute GVHD and nonrelapse mortality in DISCOVeRY-BMT. PMID:31391166
Identification and Clinical Validation of a Novel 4 Gene-Signature with Prognostic Utility in Colorectal Cancer. PMID:31387239
Whole transcriptome analysis reveals correlation of long noncoding RNA ZEB1-AS1 with invasive profile in melanoma. PMID:31383874
What lipodystrophies teach us about the metabolic syndrome. PMID:31380809
Relevance of Multi-Omics Studies in Cardiovascular Diseases. PMID:31380393
IL-32 and its splice variants are associated with protection against Mycobacterium tuberculosis infection and skewing of Th1/Th17 cytokines. PMID:31378983
Transcriptome profiling of the liver among the prenatal and postnatal stages in chickens. PMID:31376353
Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype. PMID:31375807
Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding. PMID:31375681
Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report. PMID:31375103
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. PMID:31371714
Genetic predisposition to increased serum calcium, bone mineral density, and fracture risk in individuals with normal calcium levels: mendelian randomisation study. PMID:31371314
Genetic predictors of chemotherapy-related amenorrhea in women with breast cancer. PMID:31371054
Beyond sequencing: re-visiting annotations for PJL as a test case. PMID:31366397
Genome-Wide Association Study of Metabolic Syndrome Reveals Primary Genetic Variants at CETP Locus in Indians. PMID:31366177
New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders. PMID:31358974
The Potential Role of Regulatory Genes (DNMT3A, HDAC5, and HDAC9) in Antipsychotic Treatment Response in South African Schizophrenia Patients. PMID:31354789
An expanded landscape of human long noncoding RNA. PMID:31350901
Differentially methylated regions in bipolar disorder and suicide. PMID:31350827
LOXL3 Function Beyond Amino Oxidase and Role in Pathologies, Including Cancer. PMID:31340433
Overlap of Genetic Risk between Interstitial Lung Abnormalities and Idiopathic Pulmonary Fibrosis. PMID:31339356
EMP2 acts as a suppressor of melanoma and is negatively regulated by mTOR-mediated autophagy. PMID:31333775
Putamen gray matter volumes in neuropsychiatric and neurodegenerative disorders. PMID:31328186
AKAP6 and phospholamban colocalize and interact in HEK-293T cells and primary murine cardiomyocytes. PMID:31325238
Estimating dispensable content in the human interactome. PMID:31324802
SREBP1-dependent de novo fatty acid synthesis gene expression is elevated in malignant melanoma and represents a cellular survival trait. PMID:31316083
Defective HNF4alpha-dependent gene expression as a driver of hepatocellular failure in alcoholic hepatitis. PMID:31311938
Improved detection of gene fusions by applying statistical methods reveals oncogenic RNA cancer drivers. PMID:31308241
Selection-adjusted inference: an application to confidence intervals for cis-eQTL effect sizes. PMID:31301173
Biological characterization of expression quantitative trait loci (eQTLs) showing tissue-specific opposite directional effects. PMID:31296926
Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren's disease. PMID:31296227
Divergence of an association between depressive symptoms and a dopamine polygenic score in Caucasians and Asians. PMID:31289926
Identification of RBPMS as a mammalian smooth muscle master splicing regulator via proximity of its gene with super-enhancers. PMID:31283468
The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public. PMID:31280677
Whole-Exome Sequencing Identified a De Novo Mutation of Junction Plakoglobin (p.R577C) in a Chinese Patient with Arrhythmogenic Right Ventricular Cardiomyopathy. PMID:31275992
Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study. PMID:31268507
Long noncoding RNA NEAT1 mediates neuronal histone methylation and age-related memory impairment. PMID:31266852
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome. PMID:31263063
Investigation of Leukocyte Telomere Length and Genetic Variants in Chromosome 5p15.33 as Prognostic Markers in Lung Cancer. PMID:31263055
Interleukin-18 as a drug repositioning opportunity for inflammatory bowel disease: A Mendelian randomization study. PMID:31253830
Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis. PMID:31253775
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study. PMID:31246245
The Effect of Genetic Variation on the Placental Transcriptome in Humans. PMID:31244887
Association of SYNE1 locus with bipolar disorder in Chinese population. PMID:31236099
Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data. PMID:31235808
Skeletal muscle PGC-1α1 reroutes kynurenine metabolism to increase energy efficiency and fatigue-resistance. PMID:31235694
Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration. PMID:31226389
A subtype of oral, laryngeal, esophageal, and lung, squamous cell carcinoma with high levels of TrkB-T1 neurotrophin receptor mRNA. PMID:31221127
Genome-wide enhancer annotations differ significantly in genomic distribution, evolution, and function. PMID:31221079
Genome-Wide Association Study Identifies Loci for Liver Enzyme Concentrations in Mexican Americans: The GUARDIAN Consortium. PMID:31219225
p73 regulates epidermal wound healing and induced keratinocyte programming. PMID:31216312
Methylome-wide association study provides evidence of particulate matter air pollution-associated DNA methylation. PMID:31208937
Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver. PMID:31204013
An expanded proteome of cardiac t-tubules. PMID:31202980
An integrative cross-omics analysis of DNA methylation sites of glucose and insulin homeostasis. PMID:31197173
DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs. PMID:31186048
Comprehensive genomic characterization of breast tumors with BRCA1 and BRCA2 mutations. PMID:31182087
BarkBase: Epigenomic Annotation of Canine Genomes. PMID:31181663
Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology. PMID:31178129
arcasHLA: high-resolution HLA typing from RNAseq. PMID:31173059
Stochastic imputation for integrated transcriptome association analysis of a longitudinally measured trait. PMID:31172883
RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues. PMID:31171663
The genomic basis of mood instability: identification of 46 loci in 363,705 UK Biobank participants, genetic correlation with psychiatric disorders, and association with gene expression and function. PMID:31168069
PD-L1 and PD-L2 expression correlated genes in non-small-cell lung cancer. PMID:31159869
Impact and Evolutionary Determinants of Neanderthal Introgression on Transcriptional and Post-Transcriptional Regulation. PMID:31155285
A genomic atlas of systemic interindividual epigenetic variation in humans. PMID:31155008
CORR® ORS Richard A. Brand Award: Disruption in Peroxisome Proliferator-Activated Receptor-γ (PPARG) Increases Osteonecrosis Risk Through Genetic Variance and Pharmacologic Modulation. PMID:31135556
PSI-Sigma: a comprehensive splicing-detection method for short-read and long-read RNA-seq analysis. PMID:31135034
A Social Determinant of Health May Modify Genetic Associations for Blood Pressure: Evidence From a SNP by Education Interaction in an African American Population. PMID:31134134
Identification of the primate-specific gene BTN3A2 as an additional schizophrenia risk gene in the MHC loci. PMID:31133542
Rare variant phasing using paired tumor:normal sequence data. PMID:31132991
Resolving the Insertion Sites of Polymorphic Duplications Reveals a HERC2 Haplotype under Selection. PMID:31124564
Transcriptome Changes in Relation to Manic Episode. PMID:31118907
ChEA3: transcription factor enrichment analysis by orthogonal omics integration. PMID:31114921
Aberrant expression of select piRNA-pathway genes does not reactivate piRNA silencing in cancer cells. PMID:31110013
Genomewide Association Study Confirming the Association of NAT2 with Susceptibility to Antituberculosis Drug-Induced Liver Injury in Thai Patients. PMID:31109976
Fatty Acid Signaling Mechanisms in Neural Cells: Fatty Acid Receptors. PMID:31105530
A genome-wide association study identifies susceptibility loci for primary central nervous system lymphoma at 6p25.3 and 3p22.1: a LOC Network study. PMID:31102405
Functional linkage of gene fusions to cancer cell fitness assessed by pharmacological and CRISPR-Cas9 screening. PMID:31097696
MAGE-A3 is a Clinically Relevant Target in Undifferentiated Pleomorphic Sarcoma/Myxofibrosarcoma. PMID:31096717
Interferon inducible X-linked gene CXorf21 may contribute to sexual dimorphism in Systemic Lupus Erythematosus. PMID:31092820
Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis. PMID:31092817
Genetic variation in CADM2 as a link between psychological traits and obesity. PMID:31089183
Integrative analysis of Dupuytren's disease identifies novel risk locus and reveals a shared genetic etiology with BMI. PMID:31087417
Normal spermatogenesis in Fank1 (fibronectin type 3 and ankyrin repeat domains 1) mutant mice. PMID:31086747
Weighting sequence variants based on their annotation increases the power of genome-wide association studies in dairy cattle. PMID:31077144
Cardioprotective Effects of MTSS1 Enhancer Variants. PMID:31070942
Genetics of the Human Interferon Lambda Region. PMID:31070498
Precision oncology of lung cancer: genetic and genomic differences in Chinese population. PMID:31069257
Large-scale in-silico identification of a tumor-specific antigen pool for targeted immunotherapy in triple-negative breast cancer. PMID:31069014
Benchmarker: An Unbiased, Association-Data-Driven Strategy to Evaluate Gene Prioritization Algorithms. PMID:31056107
PAX8 regulon in human ovarian cancer links lineage dependency with epigenetic vulnerability to HDAC inhibitors. PMID:31050342
The long non-coding RNA Cerox1 is a post transcriptional regulator of mitochondrial complex I catalytic activity. PMID:31045494
Genetic Insights Into Smooth Muscle Cell Contributions to Coronary Artery Disease. PMID:31043074
Evidence from genome wide association studies implicates reduced control of Epstein-Barr virus infection in multiple sclerosis susceptibility. PMID:31039804
Family-based quantitative trait meta-analysis implicates rare noncoding variants in DENND1A in polycystic ovary syndrome. PMID:31038695
BMI is an important determinant of VWF and FVIII levels and bleeding phenotype in patients with von Willebrand disease. PMID:31037771
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. PMID:31034465
Genomic Association Analysis Reveals Variants Associated With Blood Pressure Response to Beta-Blockers in European Americans. PMID:31033190
Postmortem brain tissue as an underutilized resource to study the molecular pathology of neuropsychiatric disorders across different ethnic populations. PMID:31028758
NAD metabolic dependency in cancer is shaped by gene amplification and enhancer remodelling. PMID:31019297
Atlas of RNA sequencing profiles for normal human tissues. PMID:31015567
Lung Cancer Risk in Never-Smokers of European Descent is Associated With Genetic Variation in the 5p15.33 TERT-CLPTM1Ll Region. PMID:31009812
Dual inhibition of ABCE1 and LCP1 by microRNA-96 results in an additive effect in breast cancer mouse model. PMID:31007850
Accuracy of Gene Expression Prediction From Genotype Data With PrediXcan Varies Across and Within Continental Populations. PMID:31001318
Varicose veins of lower extremities: Insights from the first large-scale genetic study. PMID:30998689
Proteins with Evolutionarily Hypervariable Domains are Associated with Immune Response and Better Survival of Basal-like Breast Cancer Patients. PMID:30996822
Immune Signaling in Neurodegeneration. PMID:30995509
Effect of genetic variants in cell adhesion pathways on the biochemical recurrence in prostate cancer patients with radical prostatectomy. PMID:30993852
Understanding Human-Virus Protein-Protein Interactions Using a Human Protein Complex-Based Analysis Framework. PMID:30984872
Identification of a Functional Non-coding Variant in the GABA A Receptor α2 Subunit of the C57BL/6J Mouse Reference Genome: Major Implications for Neuroscience Research. PMID:30984232
The Future of Genomic Studies Must Be Globally Representative: Perspectives from PAGE. PMID:30978304
Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study. PMID:30976018
Necroptosis mediators RIPK3 and MLKL suppress intracellular Listeria replication independently of host cell killing. PMID:30975711
Transcriptomics-Based Screening Identifies Pharmacological Inhibition of Hsp90 as a Means to Defer Aging. PMID:30970250
Clinical and Genome-wide Analysis of Cisplatin-induced Tinnitus Implicates Novel Ototoxic Mechanisms. PMID:30952644
Genomic Positional Dissection of RNA Editomes in Tumor and Normal Samples. PMID:30949194
Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies. PMID:30945774
Identification of a 1p21 independent functional variant for abdominal obesity. PMID:30944420
Novel Genetic Locus of Visceral Fat and Systemic Inflammation. PMID:30942860
Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis. PMID:30940143
A Peripheral Blood DNA Methylation Signature of Hepatic Fat Reveals a Potential Causal Pathway for Nonalcoholic Fatty Liver Disease. PMID:30936141
The long noncoding RNA Falcor regulates Foxa2 expression to maintain lung epithelial homeostasis and promote regeneration. PMID:30923168
Evaluating reproducibility of AI algorithms in digital pathology with DAPPER. PMID:30917113
Genome-wide association study of blood lipids in Indians confirms universality of established variants. PMID:30911093
Transcriptome‑wide piRNA profiling in human gastric cancer. PMID:30896887
Cross-Cancer Pleiotropic Associations with Lung Cancer Risk in African Americans. PMID:30894353
Positive selection in Europeans and East-Asians at the ABCA12 gene. PMID:30890716
Parkinson's Disease is Associated with Dysregulations of a Dopamine-Modulated Gene Network Relevant to Sleep and Affective Neurobehaviors in the Striatum. PMID:30886221
DDOT: A Swiss Army Knife for Investigating Data-Driven Biological Ontologies. PMID:30878356
IKZF1 Deletions with COBL Breakpoints Are Not Driven by RAG-Mediated Recombination Events in Acute Lymphoblastic Leukemia. PMID:30877974
Systemic nature of spinal muscular atrophy revealed by studying insurance claims. PMID:30870495
Survey of allele specific expression in bovine muscle. PMID:30862965
The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locus. PMID:30852652
Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02. PMID:30850646
Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci. PMID:30837455
GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish. PMID:30827500
deTS: tissue-specific enrichment analysis to decode tissue specificity. PMID:30824912
Selecting variants of unknown significance through network-based gene-association significantly improves risk prediction for disease-control cohorts. PMID:30824863
Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer. PMID:30820706
Risk prediction models for dementia constructed by supervised principal component analysis using miRNA expression data. PMID:30820472
Genetic Markers of ADHD-Related Variations in Intracranial Volume. PMID:30818988
Integrative Analysis Revealing Human Adipose-Specific Genes and Consolidating Obesity Loci. PMID:30816281
Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci. PMID:30807572
Tissue-specific BMAL1 cistromes reveal that rhythmic transcription is associated with rhythmic enhancer-enhancer interactions. PMID:30804225
Pleiotropic effect of common PHOX2B variants in Hirschsprung disease and neuroblastoma. PMID:30799307
Extraction-free whole transcriptome gene expression analysis of FFPE sections and histology-directed subareas of tissue. PMID:30794557
New Human Chromosomal Sites with "Safe Harbor" Potential for Targeted Transgene Insertion. PMID:30793977
Extended methods for gene-environment-wide interaction scans in studies of admixed individuals with varying degrees of relationships. PMID:30793815
Functional Genetic Variation in the Anti-Müllerian Hormone Pathway in Women With Polycystic Ovary Syndrome. PMID:30786001
Machine learning analysis of gene expression data reveals novel diagnostic and prognostic biomarkers and identifies therapeutic targets for soft tissue sarcomas. PMID:30785874
Uncovering genetic mechanisms of kidney aging through transcriptomics, genomics, and epigenomics. PMID:30784661
Ethical implications of using biobanks and population databases for genetic suicide research. PMID:30779308
A deep proteome and transcriptome abundance atlas of 29 healthy human tissues. PMID:30777892
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. PMID:30773277
Integrative analyses of major histocompatibility complex loci in the genome-wide association studies of major depressive disorder. PMID:30771788
Beyond a Binary Classification of Sex: An Examination of Brain Sex Differentiation, Psychopathology, and Genotype. PMID:30768381
A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort. PMID:30766545
Ectopic Otoconin 90 expression in triple negative breast cancer cell lines is associated with metastasis functions. PMID:30763339
Identification of novel genome-wide associations for suicidality in UK Biobank, genetic correlation with psychiatric disorders and polygenic association with completed suicide. PMID:30745170
Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia. PMID:30741946
The Opening of Pandora's Box: An Emerging Role of Long Noncoding RNA in Viral Infections. PMID:30740112
Functional genomics reveal gene regulatory mechanisms underlying schizophrenia risk. PMID:30737407
Genetic variants in ELOVL2 and HSD17B12 predict melanoma-specific survival. PMID:30734280
An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient. PMID:30733659
New insights into the pathogenicity of non-synonymous variants through multi-level analysis. PMID:30733553
Signal Peptide Peptidase-Like 2c (SPPL2c) impairs vesicular transport and cleavage of SNARE proteins. PMID:30733281
Shambhala: a platform-agnostic data harmonizer for gene expression data. PMID:30727942
Inferring Gene Regulatory Networks from a Population of Yeast Segregants. PMID:30718595
Comprehensive functional annotation of susceptibility SNPs prioritized 10 genes for schizophrenia. PMID:30705251
Selecting precise reference normal tissue samples for cancer research using a deep learning approach. PMID:30704474
Identification of qPCR reference genes suitable for normalizing gene expression in the mdx mouse model of Duchenne muscular dystrophy. PMID:30699165
Genome-wide association study of inhaled corticosteroid response in admixed children with asthma. PMID:30697902
GPR68: An Emerging Drug Target in Cancer. PMID:30696114
T cells genetically engineered to overcome death signaling enhance adoptive cancer immunotherapy. PMID:30694219
Stems cells, big data and compendium-based analyses for identifying cell types, signalling pathways and gene regulatory networks. PMID:30684132
A junction coverage compatibility score to quantify the reliability of transcript abundance estimates and annotation catalogs. PMID:30655364
High-Throughput Architecture for Discovering Combination Cancer Therapeutics. PMID:30652536
Sex differences in gene expression in response to ischemia in the human left ventricular myocardium. PMID:30649309
VRK2, a Candidate Gene for Psychiatric and Neurological Disorders. PMID:30643786
POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33. PMID:30643196
The RNA-Binding Protein PUM2 Impairs Mitochondrial Dynamics and Mitophagy During Aging. PMID:30642763
Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate. PMID:30638414
Sex hormone-binding globulin provides a novel entry pathway for estradiol and influences subsequent signaling in lymphocytes via membrane receptor. PMID:30626909
Evidence for a Causal Role of the SH2B3-β2M Axis in Blood Pressure Regulation. PMID:30624993
Using Next-Generation Sequencing Transcriptomics To Determine Markers of Post-traumatic Symptoms: Preliminary Findings from a Post-deployment Cohort of Soldiers. PMID:30622122
Attention-deficit/hyperactivity disorder and lifetime cannabis use: genetic overlap and causality. PMID:30610198
Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. PMID:30604766
Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract. PMID:30604070
Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology. PMID:30602759
The HNF1α-Regulated LncRNA HNF1α-AS1 Is Involved in the Regulation of Cytochrome P450 Expression in Human Liver Tissues and Huh7 Cells. PMID:30602592
Multi-Ancestry Genome-Wide Association Study of Spontaneous Clearance of Hepatitis C Virus. PMID:30593799
High-Throughput Sequencing in Respiratory, Critical Care, and Sleep Medicine Research. An Official American Thoracic Society Workshop Report. PMID:30592451
iMEGES: integrated mental-disorder GEnome score by deep neural network for prioritizing the susceptibility genes for mental disorders in personal genomes. PMID:30591030
GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology. PMID:30583798
Novel Treatment of Hypertension by Specifically Targeting E2F for Restoration of Endothelial Dihydrofolate Reductase and eNOS Function Under Oxidative Stress. PMID:30571557
Probing the Virtual Proteome to Identify Novel Disease Biomarkers. PMID:30571344
Pyrroline-5-carboxylate reductase 1 promotes cell proliferation via inhibiting apoptosis in human malignant melanoma. PMID:30568501
Neoantigen vaccine generates intratumoral T cell responses in phase Ib glioblastoma trial. PMID:30568305
Clinical and Genetic Determinants of Varicose Veins. PMID:30566020
Identification and characterization of an alternative cancer-derived PD-L1 splice variant. PMID:30564890
Functional Prediction of Chronic Kidney Disease Susceptibility Gene PRKAG2 by Comprehensively Bioinformatics Analysis. PMID:30559760
The polygenic nature of telomere length and the anti-ageing properties of lithium. PMID:30559463
Diagnosing rare diseases after the exome. PMID:30559314
Genome-wide association study (GWAS) of ovarian cancer in Japanese predicted regulatory variants in 22q13.1. PMID:30557369
A quantitative framework for characterizing the evolutionary history of mammalian gene expression. PMID:30552105
Integrating molecular networks with genetic variant interpretation for precision medicine. PMID:30548534
Identification of the major diacylglycerol acyltransferase mRNA in mouse adipocytes and macrophages. PMID:30547742
Genetic associations of T cell cancer immune response with tumor aggressiveness in localized prostate cancer patients and disease reclassification in an active surveillance cohort. PMID:30546938
The DGCR5 long noncoding RNA may regulate expression of several schizophrenia-related genes. PMID:30545965
Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope. PMID:30542207
Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne. PMID:30542056
Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. PMID:30531825
Replicated associations of FADS1, MAD1L1, and a rare variant at 10q26.13 with bipolar disorder in Chinese population. PMID:30531795
NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants. PMID:30528300
Non-coding Class Switch Recombination-Related Transcription in Human Normal and Pathological Immune Responses. PMID:30519242
Variant of SNP rs1317082 at CCSlnc362 (RP11-362K14.5) creates a binding site for miR-4658 and diminishes the susceptibility to CRC. PMID:30518759
Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing. PMID:30518751
Drug Targetor: a web interface to investigate the human druggome for over 500 phenotypes. PMID:30517594
Genome-epigenome interactions associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome. PMID:30516085
A likelihood-based approach to transcriptome association analysis. PMID:30515859
Gut microbiota diversity across ethnicities in the United States. PMID:30513082
Discovery of common and rare genetic risk variants for colorectal cancer. PMID:30510241
Abnormal brown adipose tissue mitochondrial structure and function in IL10 deficiency. PMID:30502051
Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis. PMID:30498034
canSAR: update to the cancer translational research and drug discovery knowledgebase. PMID:30496479
Clinical significance of glutamate metabotropic receptors in renal cell carcinoma risk and survival. PMID:30488581
Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders. PMID:30482948
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. PMID:30478444
Genetic effects of BDKRB2 and KNG1 on deep venous thrombosis after orthopedic surgery and the potential mediator. PMID:30478260
The involvement of the canonical Wnt-signaling receptor LRP5 and LRP6 gene variants with ADHD and sexual dimorphism: Association study and meta-analysis. PMID:30474181
Trypsin-encoding PRSS1-PRSS2 variations influence the risk of asparaginase-associated pancreatitis in children with acute lymphoblastic leukemia: a Ponte di Legno toxicity working group report. PMID:30467200
Germline genetic polymorphisms influence tumor gene expression and immune cell infiltration. PMID:30463956
Transmembrane Protease TMPRSS11B Promotes Lung Cancer Growth by Enhancing Lactate Export and Glycolytic Metabolism. PMID:30463017
Expression of the POTE gene family in human ovarian cancer. PMID:30459449
Development and evaluation of a transfusion medicine genome wide genotyping array. PMID:30456907
Genome-Wide Association Studies of Estimated Fatty Acid Desaturase Activity in Serum and Adipose Tissue in Elderly Individuals: Associations with Insulin Sensitivity. PMID:30453627
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. PMID:30449657
Expression profiling and in situ screening of circular RNAs in human tissues. PMID:30446675
Functional regulatory mechanism of smooth muscle cell-restricted LMOD1 coronary artery disease locus. PMID:30444878
The Body-wide Transcriptome Landscape of Disease Models. PMID:30428375
Genetic variations in the ADCK1 gene predict paliperidone palmitate efficacy in Han Chinese patients with schizophrenia. PMID:30426252
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation. PMID:30425284
Conditional generative adversarial network for gene expression inference. PMID:30423066
Predicting Novel Therapies and Targets: Regulation of Notch3 by the Bromodomain Protein BRD4. PMID:30420565
Associations of genetic variants in endocytic trafficking of epidermal growth factor receptor super pathway with risk of nonsyndromic cleft lip with or without cleft palate. PMID:30411541
Genetic polymorphisms in CDH1 are associated with endometrial carcinoma susceptibility among Chinese Han women. PMID:30405831
High expression of GALNT7 promotes invasion and proliferation of glioma cells. PMID:30405766
Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans. PMID:30403821
Trafficking of the human ether-a-go-go-related gene (hERG) potassium channel is regulated by the ubiquitin ligase rififylin (RFFL). PMID:30401747
Perturbations of Neuron-Restrictive Silencing Factor Modulate Corticotropin-Releasing Hormone Gene Expression in the Human Cell Line BeWo. PMID:30397598
The influence of Neanderthal alleles on cytotoxic response. PMID:30386687
Relationship of common variants in VEGFA gene with osteonecrosis of the femoral head: A Han Chinese population based association study. PMID:30385772
Genome-wide meta-analysis identifies 3 novel loci associated with stroke. PMID:30383316
Evolutionary conservation of Y Chromosome ampliconic gene families despite extensive structural variation. PMID:30381290
Disease networks identify specific conditions and pleiotropy influencing multimorbidity in the general population. PMID:30374096
From Single Level Analysis to Multi-Omics Integrative Approaches: A Powerful Strategy towards the Precision Oncology. PMID:30373182
Association of ADAMTS4 and ADAMTS5 polymorphisms with musculoskeletal degenerative diseases: a systematic review and meta-analysis. PMID:30369484
Integrative approach identifies corticosteroid response variant in diverse populations with asthma. PMID:30367910
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. PMID:30361506
Association of the WNT3 polymorphisms and non-syndromic cleft lip with or without cleft palate: evidence from a meta-analysis. PMID:30355643
Genetic Susceptibility Loci for Cardiovascular Disease and Their Impact on Atherosclerotic Plaques. PMID:30354329
Human Urinary mRNA as a Biomarker of Cardiovascular Disease. PMID:30354328
Chromatin accessibility landscape of articular knee cartilage reveals aberrant enhancer regulation in osteoarthritis. PMID:30341348
Context-specific interactions in literature-curated protein interaction databases. PMID:30340458
Integrative Genomics Analysis Identifies ACVR1B as a Candidate Causal Gene of Emphysema Distribution. PMID:30335480
Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes. PMID:30333196
CancerSplicingQTL: a database for genome-wide identification of splicing QTLs in human cancer. PMID:30329095
BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts. PMID:30323354
The E3 ubiquitin ligase TRIM25 regulates adipocyte differentiation via proteasome-mediated degradation of PPARγ. PMID:30323259
Alcohol Dehydrogenases, Aldehyde Dehydrogenases, and Alcohol Use Disorders: A Critical Review. PMID:30320893
Identification of key gene pathways and coexpression networks of islets in human type 2 diabetes. PMID:30319280
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development. PMID:30318146
Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney. PMID:30317447
Post-transcriptional Regulatory Functions of Mammalian Pumilio Proteins. PMID:30316580
TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice. PMID:30307510
A comprehensive overview of genomic imprinting in breast and its deregulation in cancer. PMID:30297886
Large-scale transcriptome-wide association study identifies new prostate cancer risk regions. PMID:30287866
In Search of Biomarkers for Pathogenesis and Control of Leishmaniasis by Global Analyses of Leishmania-Infected Macrophages. PMID:30283744
Colon-specific eQTL analysis to inform on functional SNPs. PMID:30283144
Chromosome 17 Missing Proteins: Recent Progress and Future Directions as Part of the neXt-MP50 Challenge. PMID:30280577
psichomics: graphical application for alternative splicing quantification and analysis. PMID:30277515
Integrated systems analysis reveals conserved gene networks underlying response to spinal cord injury. PMID:30277459
Machine Learning Methods for Histopathological Image Analysis. PMID:30275936
Renal compartment-specific genetic variation analyses identify new pathways in chronic kidney disease. PMID:30275566
Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci. PMID:30275530
Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5. PMID:30273415
Identification of key candidate genes and small molecule drugs in cervical cancer by bioinformatics strategy. PMID:30271202
MiPanda: A Resource for Analyzing and Visualizing Next-Generation Sequencing Transcriptomics Data. PMID:30268942
A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia. PMID:30266950
Chromosome Y-encoded antigens associate with acute graft-versus-host disease in sex-mismatched stem cell transplant. PMID:30262602
Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume. PMID:30258056
De novo pattern discovery enables robust assessment of functional consequences of non-coding variants. PMID:30256891
Novel insight into the genetic basis of high-altitude pulmonary hypertension in Kyrgyz highlanders. PMID:30254217
Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome. PMID:30250126
Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans. PMID:30248107
HACER: an atlas of human active enhancers to interpret regulatory variants. PMID:30247654
A differential host response to viral infection defines a subset of earlier-onset diverticulitis patients. PMID:30240468
Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks. PMID:30239781
Epigenome-Wide Analyses Identify Two Novel Associations With Recurrent Stroke in the Vitamin Intervention for Stroke Prevention Clinical Trial. PMID:30237808
Integrative analysis of the cancer genome atlas and cancer cell lines encyclopedia large-scale genomic databases: MUC4/MUC16/MUC20 signature is associated with poor survival in human carcinomas. PMID:30236127
Prognostic value of minichromosome maintenance mRNA expression in early-stage pancreatic ductal adenocarcinoma patients after pancreaticoduodenectomy. PMID:30233242
Left ventricular remodeling after the first myocardial infarction in association with LGALS-3 neighbouring variants rs2274273 and rs17128183 and its relative mRNA expression: a prospective study. PMID:30229476
Losses of cytokines and chemokines are common genetic features of human cancers: the somatic copy number alterations are correlated with patient prognoses and therapeutic resistance. PMID:30228934
Transcriptional fates of human-specific segmental duplications in brain. PMID:30228200
Model organism data evolving in support of translational medicine. PMID:30224793
Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes. PMID:30224649
Positional integration of lung adenocarcinoma susceptibility loci with primary human alveolar epithelial cell epigenomes. PMID:30212242
A database of tissue-specific rhythmically expressed human genes has potential applications in circadian medicine. PMID:30209245
A genome-wide association and admixture mapping study of bronchodilator drug response in African Americans with asthma. PMID:30206298
Genome-Wide Variants Shared Between Smoking Quantity and Schizophrenia on 15q25 Are Associated With CHRNA5 Expression in the Brain. PMID:30202994
Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway. PMID:30199819
Omega-3 Fatty Acids and Genome-Wide Interaction Analyses Reveal DPP10-Pulmonary Function Association. PMID:30199657
Characterisation and functional predictions of canine long non-coding RNAs. PMID:30194329
Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex. PMID:30190613
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. PMID:30190612
Cross-tissue eQTL enrichment of associations in schizophrenia. PMID:30188921
Genetics of self-reported risk-taking behaviour, trans-ethnic consistency and relevance to brain gene expression. PMID:30181555
A Comprehensive Survey of Immune Cytolytic Activity-Associated Gene Co-Expression Networks across 17 Tumor and Normal Tissue Types. PMID:30181502
Observations of extensive gene expression differences in the cerebellum and potential relevance to Alzheimer's disease. PMID:30180886
Children's biobehavioral reactivity to challenge predicts DNA methylation in adolescence and emerging adulthood. PMID:30176105
Meta-analysis of exome array data identifies six novel genetic loci for lung function. PMID:30175238
A UNIFIED STATISTICAL FRAMEWORK FOR SINGLE CELL AND BULK RNA SEQUENCING DATA. PMID:30174778
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. PMID:30167849
PhenoSpD: an integrated toolkit for phenotypic correlation estimation and multiple testing correction using GWAS summary statistics. PMID:30165448
Nexilin/NEXN controls actin polymerization in smooth muscle and is regulated by myocardin family coactivators and YAP. PMID:30158653
Bioinformatic and biological avenues for understanding alcohol use disorder. PMID:30144960
The complexity of the cilium: spatiotemporal diversity of an ancient organelle. PMID:30138887
Sodium valproate rescues expression of TRANK1 in iPSC-derived neural cells that carry a genetic variant associated with serious mental illness. PMID:30135510
Functional diversity of TMPRSS6 isoforms and variants expressed in hepatocellular carcinoma cell lines. PMID:30135444
Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk. PMID:30127527
Identification of novel loci associated with infant cognitive ability. PMID:30120420
Genome-Wide Association Study of Circadian Rhythmicity in 71,500 UK Biobank Participants and Polygenic Association with Mood Instability. PMID:30120083
Genetics of suicide attempts in individuals with and without mental disorders: a population-based genome-wide association study. PMID:30116032
Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease. PMID:30111768
Systems level expression correlation of Ras GTPase regulators. PMID:30111366
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. PMID:30109410
A Methodological Assessment and Characterization of Genetically-Driven Variation in Three Human Phosphoproteomes. PMID:30108239
Association study and mutation sequencing of genes on chromosome 15q11-q13 identified GABRG3 as a susceptibility gene for autism in Chinese Han population. PMID:30108208
Human exonization through differential nucleosome occupancy. PMID:30104384
Fine-mapping analysis of a chromosome 2 region linked to resistance to Mycobacterium tuberculosis infection in Uganda reveals potential regulatory variants. PMID:30100616
Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures. PMID:30100185
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. PMID:30098192
Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility. PMID:30093639
Identification of nine new susceptibility loci for endometrial cancer. PMID:30093612
Realizing the significance of noncoding functionality in clinical genomics. PMID:30089779
Alzheimer's Disease Risk Variant rs2373115 Regulates GAB2 and NARS2 Expression in Human Brain Tissues. PMID:30088171
Genetic association and meta-analysis of a schizophrenia GWAS variant rs10489202 in East Asian populations. PMID:30087317
RNA editing of Filamin A pre-mRNA regulates vascular contraction and diastolic blood pressure. PMID:30087110
Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology. PMID:30067744
Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function. PMID:30061609
Complex Haplotypes of GSTM1 Gene Deletions Harbor Signatures of a Selective Sweep in East Asian Populations. PMID:30061374
Recent advances in developing therapeutics for cystic fibrosis. PMID:30060192
Toward mapping the human body at a cellular resolution. PMID:30058989
IRF2BPL Is Associated with Neurological Phenotypes. PMID:30057031
Genetic association of the cytochrome c oxidase-related genes with Alzheimer's disease in Han Chinese. PMID:30054583
exoRBase: a database of circRNA, lncRNA and mRNA in human blood exosomes. PMID:30053265
Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. PMID:30033119
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. PMID:30032986
Characterizing the Relation Between Expression QTLs and Complex Traits: Exploring the Role of Tissue Specificity. PMID:30030655
Transcriptional network analysis on brains reveals a potential regulatory role of PPP1R3F in autism spectrum disorders. PMID:30016992
Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk. PMID:30013180
GIGSEA: genotype imputed gene set enrichment analysis using GWAS summary level data. PMID:30010968
Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk. PMID:30010910
Integrated analysis of human genetic association study and mouse transcriptome suggests LBH and SHF genes as novel susceptible genes for amyloid-β accumulation in Alzheimer's disease. PMID:30006735
Exome Chip Analysis Identifies Low-Frequency and Rare Variants in MRPL38 for White Matter Hyperintensities on Brain Magnetic Resonance Imaging. PMID:30002152
Analytical "bake-off" of whole genome sequencing quality for the Genome Russia project using a small cohort for autoimmune hepatitis. PMID:29995946
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy. PMID:29988065
A vascular endothelial growth factor receptor gene variant is associated with susceptibility to acute respiratory distress syndrome. PMID:29987654
BrainEXP: a database featuring with spatiotemporal expression variations and co-expression organizations in human brains. PMID:29985970
Differential coexpression in human tissues and the confounding effect of mean expression levels. PMID:29982380
TLR10 and NFKBIA contributed to the risk of hip osteoarthritis: systematic evaluation based on Han Chinese population. PMID:29980729
Immune signatures correlate with L1 retrotransposition in gastrointestinal cancers. PMID:29970450
Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy. PMID:29962935
Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation. PMID:29955180
Molecular windows into the human brain for psychiatric disorders. PMID:29955163
Promoter interactome of human embryonic stem cell-derived cardiomyocytes connects GWAS regions to cardiac gene networks. PMID:29955040
COSSMO: predicting competitive alternative splice site selection using deep learning. PMID:29949959
Mitoregulin: A lncRNA-Encoded Microprotein that Supports Mitochondrial Supercomplexes and Respiratory Efficiency. PMID:29949756
Genome-wide association analysis links multiple psychiatric liability genes to oscillatory brain activity. PMID:29947131
Platforms for Investigating LncRNA Functions. PMID:29945466
Genetic association and functional analysis of rs7903456 in FAM35A gene and hyperuricemia: a population based study. PMID:29942023
The Reprimo Gene Family: A Novel Gene Lineage in Gastric Cancer with Tumor Suppressive Properties. PMID:29941787
Shared Genetic Contribution of Type 2 Diabetes and Cardiovascular Disease: Implications for Prognosis and Treatment. PMID:29938349
Base Excision Repair Gene Polymorphisms and Wilms Tumor Susceptibility. PMID:29937070
Characterization of expression and alternative splicing of the gene cadherin-like and PC esterase domain containing 1 (Cped1). PMID:29935354
Genomic approaches for the elucidation of genes and gene networks underlying cardiovascular traits. PMID:29934864
Analysis of sensitive information leakage in functional genomics signal profiles through genomic deletions. PMID:29934598
BMI1 enhancer polymorphism underlies chromosome 10p12.31 association with childhood acute lymphoblastic leukemia. PMID:29923177
Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome. PMID:29922639
Epigenetic maintenance of topological domains in the highly rearranged gibbon genome. PMID:29914971
Massive expression of germ cell-specific genes is a hallmark of cancer and a potential target for novel treatment development. PMID:29907769
Translating GWAS Findings to Novel Therapeutic Targets for Coronary Artery Disease. PMID:29900175
Immunome differences between porcine ileal and jejunal Peyer's patches revealed by global transcriptome sequencing of gut-associated lymphoid tissues. PMID:29899562
Regulatory variants: from detection to predicting impact. PMID:29893792
Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood. PMID:29891976
Recent Findings in the Genetics of Blood Pressure: How to Apply in Practice or Is a Moonshot Required? PMID:29881931
High-resolution comparative analysis of great ape genomes. PMID:29880660
Discovery, fine-mapping, and conditional analyses of genetic variants associated with C-reactive protein in multiethnic populations using the Metabochip in the Population Architecture using Genomics and Epidemiology (PAGE) study. PMID:29878111
RegenDbase: a comparative database of noncoding RNA regulation of tissue regeneration circuits across multiple taxa. PMID:29872545
GPCRomics: GPCR Expression in Cancer Cells and Tumors Identifies New, Potential Biomarkers and Therapeutic Targets. PMID:29872392
MICMIC: identification of DNA methylation of distal regulatory regions with causal effects on tumorigenesis. PMID:29871649
A comparison of mechanistic signaling pathway activity analysis methods. PMID:29868818
Genetics of Obesity Traits: A Bivariate Genome-Wide Association Analysis. PMID:29868124
Genetic susceptibility of postmenopausal osteoporosis on sulfide quinone reductase-like gene. PMID:29855663
Genome-wide prediction of cis-regulatory regions using supervised deep learning methods. PMID:29855387
Gene Variation of Endoplasmic Reticulum Aminopeptidases 1 and 2, and Risk of Blood Pressure Progression and Incident Hypertension among 17,255 Initially Healthy Women. PMID:29850473
AmpliSeq transcriptome analysis of human alveolar and monocyte-derived macrophages over time in response to Mycobacterium tuberculosis infection. PMID:29847580
Genome-Wide Association Study of Serum Fructosamine and Glycated Albumin in Adults Without Diagnosed Diabetes: Results From the Atherosclerosis Risk in Communities Study. PMID:29844224
Transcriptome-wide association studies accounting for colocalization using Egger regression. PMID:29808603
Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS. PMID:29805045
Sorting Five Human Tumor Types Reveals Specific Biomarkers and Background Classification Genes. PMID:29802335
GIANT 2.0: genome-scale integrated analysis of gene networks in tissues. PMID:29800226
Demographic History and Genetic Adaptation in the Himalayan Region Inferred from Genome-Wide SNP Genotypes of 49 Populations. PMID:29796643
Towards a complete map of the human long non-coding RNA transcriptome. PMID:29795125
JCAD, a Gene at the 10p11 Coronary Artery Disease Locus, Regulates Hippo Signaling in Endothelial Cells. PMID:29794114
Casein kinase 1α: biological mechanisms and theranostic potential. PMID:29793495
Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification. PMID:29790428
A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases. PMID:29785011
Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. PMID:29785010
Genome-wide association study identified new susceptible genetic variants in HLA class I region for hepatitis B virus-related hepatocellular carcinoma. PMID:29784950
Systematic interrogation of diverse Omic data reveals interpretable, robust, and generalizable transcriptomic features of clinically successful therapeutic targets. PMID:29782487
The exercise-inducible bile acid receptor Tgr5 improves skeletal muscle function in mice. PMID:29773650
Maternal folate genes and aberrant DNA hypermethylation in pediatric acute lymphoblastic leukemia. PMID:29763473
Progranulin levels in blood in Alzheimer's disease and mild cognitive impairment. PMID:29761124
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. PMID:29760442
Genetic Study of White Matter Integrity in UK Biobank (N=8448) and the Overlap With Stroke, Depression, and Dementia. PMID:29752348
Consent to a Postmortem Tissue Procurement Study: Distinguishing Family Decision Makers' Knowledge of the Genotype-Tissue Expression Project. PMID:29746160
Association of BET1L and TNRC6B with uterine leiomyoma risk and its relevant clinical features in Han Chinese population. PMID:29743541
Translating GWAS in rheumatic disease: approaches to establishing mechanism and function for genetic associations with ankylosing spondylitis. PMID:29741584
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics. PMID:29739930
Towards a map of cis-regulatory sequences in the human genome. PMID:29733395
Impact of matrix metalloproteinase-11 gene polymorphisms upon the development and progression of hepatocellular carcinoma. PMID:29725257
Vitamin D status and its influence on outcomes following major burn injury and critical illness. PMID:29721511
A Strategy for Discovery of Endocrine Interactions with Application to Whole-Body Metabolism. PMID:29719227
Applicability of Precision Medicine Approaches to Managing Hypertension in Rural Populations. PMID:29710874
Sparking Fire Under the Skin? Answers From the Association of Complement Genes With Pemphigus Foliaceus. PMID:29686679
Systemic surfaceome profiling identifies target antigens for immune-based therapy in subtypes of advanced prostate cancer. PMID:29686080
Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family. PMID:29686068
GLI2 promoter hypermethylation in saliva of children with a respiratory allergy. PMID:29682088
Dissecting the sources of gene expression variation in a pan-cancer analysis identifies novel regulatory mutations. PMID:29672706
Integrative Bioinformatics Approaches for Identification of Drug Targets in Hypertension. PMID:29670885
Mutation hotspots at CTCF binding sites coupled to chromosomal instability in gastrointestinal cancers. PMID:29670109
Digitizing omics profiles by divergence from a baseline. PMID:29666255
Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance. PMID:29666142
Unifying cancer and normal RNA sequencing data from different sources. PMID:29664468
Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways. PMID:29662059
Interactions between genetic variation and cellular environment in skeletal muscle gene expression. PMID:29659628
Mapping the tumour human leukocyte antigen (HLA) ligandome by mass spectrometry. PMID:29658117
DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of NHEJ and PARP Inhibitor Sensitivity. PMID:29656893
Functional Assays to Screen and Dissect Genomic Hits: Doubling Down on the National Investment in Genomic Research. PMID:29654098
Transcriptome Network Analysis Reveals Aging-Related Mitochondrial and Proteasomal Dysfunction and Immune Activation in Human Thyroid. PMID:29652618
Gene expression links functional networks across cortex and striatum. PMID:29651138
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. PMID:29650961
Genetic Variants in CPA6 and PRPF31 Are Associated With Variation in Response to Metformin in Individuals With Type 2 Diabetes. PMID:29650774
Massive mining of publicly available RNA-seq data from human and mouse. PMID:29636450
Pharmacogenomics and big genomic data: from lab to clinic and back again. PMID:29635477
Pleiotropic mapping and annotation selection in genome-wide association studies with penalized Gaussian mixture models. PMID:29635306
Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia. PMID:29632299
A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression. PMID:29625024
Identification and functional analysis of glycemic trait loci in the China Health and Nutrition Survey. PMID:29621232
Driver Fusions and Their Implications in the Development and Treatment of Human Cancers. PMID:29617662
The immune contexture of hepatocellular carcinoma predicts clinical outcome. PMID:29599491
A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta. PMID:29590334
Local adaptation in European populations affected the genetics of psychiatric disorders and behavioral traits. PMID:29580271
Polygenic Risk Scores in Clinical Psychology: Bridging Genomic Risk to Individual Differences. PMID:29579395
De novo mutations in regulatory elements in neurodevelopmental disorders. PMID:29562236
Comparative transcriptome profiling of the human and mouse dorsal root ganglia: an RNA-seq-based resource for pain and sensory neuroscience research. PMID:29561359
Common variant rs11191548 near the CYP17A1 gene is associated with hypertension and the serum 25(OH) D levels in Han Chinese. PMID:29556032
Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome. PMID:29554304
Susceptibility to corticosteroid-induced adrenal suppression: a genome-wide association study. PMID:29551627
Functional Polymorphisms at ERCC1/XPF Genes Confer Neuroblastoma Risk in Chinese Children. PMID:29544698
Genetic Reduction in Left Ventricular Protein Kinase C-α and Adverse Ventricular Remodeling in Human Subjects. PMID:29540468
Defining the Transcriptional Landscape during Cytomegalovirus Latency with Single-Cell RNA Sequencing. PMID:29535194
Genome-wide analysis of insomnia disorder. PMID:29520036
Spatiotemporal compartmentalization of hepatic NADH and NADPH metabolism. PMID:29514978
Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis. PMID:29514802
Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. PMID:29513927
Dysregulation of the epigenetic landscape of normal aging in Alzheimer's disease. PMID:29507413
Dissecting super-enhancer hierarchy based on chromatin interactions. PMID:29507293
Translating Immunopeptidomics to Immunotherapy-Decision-Making for Patient and Personalized Target Selection. PMID:29505699
Regulation of the Interferon Response by lncRNAs in HCV Infection. PMID:29503633
Joint study of two genome-wide association meta-analyses identified 20p12.1 and 20q13.33 for bone mineral density. PMID:29499414
From gene networks to drugs: systems pharmacology approaches for AUD. PMID:29497781
Genetic study links components of the autonomous nervous system to heart-rate profile during exercise. PMID:29497042
Stabilization of the methyl-CpG binding protein ZBTB38 by the deubiquitinase USP9X limits the occurrence and toxicity of oxidative stress in human cells. PMID:29490077
Comprehensive integrative analyses identify GLT8D1 and CSNK2B as schizophrenia risk genes. PMID:29483533
Research Techniques Made Simple: Using Genome-Wide Association Studies to Understand Complex Cutaneous Disorders. PMID:29477192
A novel variant associated with HDL-C levels by modifying DAGLB expression levels: An annotation-based genome-wide association study. PMID:29476167
Dysregulated invertebrate tropomyosin-dectin-1 interaction confers susceptibility to allergic diseases. PMID:29475849
Recently Evolved Tumor Suppressor Transcript TP73-AS1 Functions as Sponge of Human-Specific miR-941. PMID:29474580
Unexplored therapeutic opportunities in the human genome. PMID:29472638
A robust gene expression-based prognostic risk score predicts overall survival of lung adenocarcinoma patients. PMID:29467935
Network analysis of coronary artery disease risk genes elucidates disease mechanisms and druggable targets. PMID:29467471
Localization of adaptive variants in human genomes using averaged one-dependence estimation. PMID:29459739
Association of STAT6 gene variants with food allergy diagnosed by double-blind placebo-controlled food challenges. PMID:29457221
Identification of Single Nucleotide Non-coding Driver Mutations in Cancer. PMID:29456552
Genome-wide association study identifies ERBB4 on 2q34 as a novel locus associated with sperm motility in Japanese men. PMID:29453196
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma. PMID:29449654
Transcriptome analysis reveals TMPRSS6 isoforms with distinct functionalities. PMID:29441715
A novel susceptibility locus in MST1 and gene-gene interaction network for Crohn's disease in the Chinese population. PMID:29441677
The effects of death and post-mortem cold ischemia on human tissue transcriptomes. PMID:29440659
Allele-Specific Chromatin Recruitment and Therapeutic Vulnerabilities of ESR1 Activating Mutations. PMID:29438694
Breast cancer family history and allele-specific DNA methylation in the legacy girls study. PMID:29436922
Pediatric Dilated Cardiomyopathy-Associated LRRC10 (Leucine-Rich Repeat-Containing 10) Variant Reveals LRRC10 as an Auxiliary Subunit of Cardiac L-Type Ca2+ Channels. PMID:29431102
Pain control through selective chemo-axotomy of centrally projecting TRPV1+ sensory neurons. PMID:29408808
Transcriptional decomposition reveals active chromatin architectures and cell specific regulatory interactions. PMID:29402885
Genome-wide analysis of self-reported risk-taking behaviour and cross-disorder genetic correlations in the UK Biobank cohort. PMID:29391395
Fructose metabolism and metabolic disease. PMID:29388924
Identification of expression quantitative trait loci of MTOR associated with the progression of glioma. PMID:29387238
Genetic estimators of DNA methylation provide insights into the molecular basis of polygenic traits. PMID:29382824
A Genome-wide Study of Common and Rare Genetic Variants Associated with Circulating Thrombin Activatable Fibrinolysis Inhibitor. PMID:29378355
Identifying and exploiting trait-relevant tissues with multiple functional annotations in genome-wide association studies. PMID:29377896
A SNP panel for identification of DNA and RNA specimens. PMID:29370748
Population-based dose-response analysis of liver transcriptional response to trichloroethylene in mouse. PMID:29353386
GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21. PMID:29348612
Gene and MicroRNA Perturbations of Cellular Response to Pemetrexed Implicate Biological Networks and Enable Imputation of Response in Lung Adenocarcinoma. PMID:29335598
Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. PMID:29321672
A genome-wide association study identifies only two ancestry specific variants associated with spontaneous preterm birth. PMID:29317701
Genetic variants in RORA and DNMT1 associated with cutaneous melanoma survival. PMID:29313974
Putative functional genes in idiopathic dilated cardiomyopathy. PMID:29311597
The Expanding Landscape of Alternative Splicing Variation in Human Populations. PMID:29304370
Assessment of piRNA biogenesis and function in testicular germ cell tumors and their precursor germ cell neoplasia in situ. PMID:29301509
PGA: post-GWAS analysis for disease gene identification. PMID:29300829
SNCA Is a Functionally Low-Expressed Gene in Lung Adenocarcinoma. PMID:29300342
Precision Medicine for Acute Kidney Injury (AKI): Redefining AKI by Agnostic Kidney Tissue Interrogation and Genetics. PMID:29291761
Removal of RTF2 from Stalled Replisomes Promotes Maintenance of Genome Integrity. PMID:29290612
Principles and methods of in-silico prioritization of non-coding regulatory variants. PMID:29288389
Cancer transcriptome profiling at the juncture of clinical translation. PMID:29279605
Genetic and epigenetic determinants of inter-individual variability in responses to toxicants. PMID:29276797
Promoter-enhancer interactions identified from Hi-C data using probabilistic models and hierarchical topological domains. PMID:29269730
Profile of common prostate cancer risk variants in an unscreened Romanian population. PMID:29266682
Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations. PMID:29263835
Systems-epigenomics inference of transcription factor activity implicates aryl-hydrocarbon-receptor inactivation as a key event in lung cancer development. PMID:29262847
PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1. PMID:29262523
Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP. PMID:29261713
Novel Non-Histocompatibility Antigen Mismatched Variants Improve the Ability to Predict Antibody-Mediated Rejection Risk in Kidney Transplant. PMID:29259604
Transcriptomic analysis of mitochondrial TFAM depletion changing cell morphology and proliferation. PMID:29259235
Oncogenic Role of THOR, a Conserved Cancer/Testis Long Non-coding RNA. PMID:29245011
An Elongin-Cullin-SOCS Box Complex Regulates Stress-Induced Serotonergic Neuromodulation. PMID:29241538
Maternal diabetes and incidence of childhood cancer - a nationwide cohort study and exploratory genetic analysis. PMID:29238226
Outlier detection for improved differential splicing quantification from RNA-Seq experiments with replicates. PMID:29236961
SLC9B1 methylation predicts fetal intolerance of labor. PMID:29235940
Uncoordinated expression of DNA methylation-related enzymes in human cancer. PMID:29233176
Novel CYP2A6 diplotypes identified through next-generation sequencing are associated with in-vitro and in-vivo nicotine metabolism. PMID:29232328
Common variants at 2q11.2, 8q21.3, and 11q13.2 are associated with major mood disorders. PMID:29225345
How powerful are summary-based methods for identifying expression-trait associations under different genetic architectures? PMID:29218884
Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy. PMID:29212899
Impact of regulatory variation across human iPSCs and differentiated cells. PMID:29208628
Epigenetic profiling of growth plate chondrocytes sheds insight into regulatory genetic variation influencing height. PMID:29205154
Authorization of tissues from deceased patients for genetic research. PMID:29204889
Ligand-activated BMP signaling inhibits cell differentiation and death to promote melanoma. PMID:29202482
Prognostic significance of high-mobility group box protein 1 genetic polymorphisms in rheumatoid arthritis disease outcome. PMID:29200952
Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility. PMID:29196614
Patient, caregiver and physician perspectives on participating in a thoracic rapid tissue donation program. PMID:29195718
CD4+ and B Lymphocyte Expression Quantitative Traits at Rheumatoid Arthritis Risk Loci in Patients With Untreated Early Arthritis: Implications for Causal Gene Identification. PMID:29193869
Sortilin and Its Multiple Roles in Cardiovascular and Metabolic Diseases. PMID:29191923
Associations between novel genetic variants in the promoter region of MALAT1 and risk of colorectal cancer. PMID:29190941
ASElux: an ultra-fast and accurate allelic reads counter. PMID:29186329
Translational bioinformatics in mental health: open access data sources and computational biomarker discovery. PMID:29186302
Genome-wide meta-analysis in Japanese populations identifies novel variants at the TMC6-TMC8 and SIX3-SIX2 loci associated with HbA1c. PMID:29170429
FSCN1 gene polymorphisms: biomarkers for the development and progression of breast cancer. PMID:29162880
IL-11 is a crucial determinant of cardiovascular fibrosis. PMID:29160304
Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa. PMID:29155802
Efficient Generation of Transcriptomic Profiles by Random Composite Measurements. PMID:29153835
Gene expression profiles indicate tissue-specific obesity regulation changes and strong obesity relevant tissues. PMID:29151593
Identification of Pleiotropic Cancer Susceptibility Variants from Genome-Wide Association Studies Reveals Functional Characteristics. PMID:29150481
Discovering the 3' UTR-mediated regulation of alpha-synuclein. PMID:29149290
An intronic single-nucleotide polymorphism (rs13217795) in FOXO3 is associated with asthma and allergic rhinitis: a case-case-control study. PMID:29141605
A sparse differential clustering algorithm for tracing cell type changes via single-cell RNA-sequencing data. PMID:29140455
Matrix Metalloproteinases Polymorphisms as Prognostic Biomarkers in Malignant Pleural Mesothelioma. PMID:29138529
Transcriptome profiling in preadipocytes identifies long noncoding RNAs as Sam68 targets. PMID:29137239
Genetic Overlap Between Schizophrenia and Volumes of Hippocampus, Putamen, and Intracranial Volume Indicates Shared Molecular Genetic Mechanisms. PMID:29136250
Significance of functional disease-causal/susceptible variants identified by whole-genome analyses for the understanding of human diseases. PMID:29129848
CommWalker: correctly evaluating modules in molecular networks in light of annotation bias. PMID:29112702
Genome-wide association study identifies a novel locus for cannabis dependence. PMID:29112194
Transcriptional signature of lymphoblastoid cell lines of BRCA1, BRCA2 and non-BRCA1/2 high risk breast cancer families. PMID:29108258
The UCSC Genome Browser database: 2018 update. PMID:29106570
Association of HMGB1 Gene Polymorphisms with Lung Cancer Susceptibility and Clinical Aspects. PMID:29104475
Variability of genome-wide DNA methylation and mRNA expression profiles in reproductive and endocrine disease related tissues. PMID:29099281
Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics. PMID:29095815
An epigenome-wide association study meta-analysis of educational attainment. PMID:29086770
Vitamin D Receptor Signaling and Cancer. PMID:29080633
Algorithm for cellular reprogramming. PMID:29078370
Sex influences eQTL effects of SLE and Sjögren's syndrome-associated genetic polymorphisms. PMID:29070082
The DifferentialNet database of differential protein-protein interactions in human tissues. PMID:29069447
TCSBN: a database of tissue and cancer specific biological networks. PMID:29069445
Biological function integrated prediction of severe radiographic progression in rheumatoid arthritis: a nested case control study. PMID:29065906
Injury induced expression of caveolar proteins in human kidney tubules - role of megakaryoblastic leukemia 1. PMID:29065889
dreamBase: DNA modification, RNA regulation and protein binding of expressed pseudogenes in human health and disease. PMID:29059382
Profiling RNA-Seq at multiple resolutions markedly increases the number of causal eQTLs in autoimmune disease. PMID:29059182
Evidence of reduced recombination rate in human regulatory domains. PMID:29058599
Comprehensive analysis of normal adjacent to tumor transcriptomes. PMID:29057876
A Missense Variant in PLEC Increases Risk of Atrial Fibrillation. PMID:29050564
miR-708-5p: a microRNA with emerging roles in cancer. PMID:29050362
Mapping eQTL by leveraging multiple tissues and DNA methylation. PMID:29047346
A DNA Contact Map for the Mouse Runx1 Gene Identifies Novel Haematopoietic Enhancers. PMID:29042628
GLRB variants regulate nearby gene expression in human brain tissues. PMID:29042589
Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation. PMID:29040868
Biological Function of MicroRNA193a-3p in Health and Disease. PMID:29038785
Evaluating the Causal Link Between Malaria Infection and Endemic Burkitt Lymphoma in Northern Uganda: A Mendelian Randomization Study. PMID:29033373
Spatial detection of fetal marker genes expressed at low level in adult human heart tissue. PMID:29021611
Quantifying the regulatory effect size of cis-acting genetic variation using allelic fold change. PMID:29021289
The Gene Encoding Protocadherin 9 (PCDH9), a Novel Risk Factor for Major Depressive Disorder. PMID:28990594
Data Resources for Human Functional Genomics. PMID:28989986
Mendelian Randomization Analysis Identifies CpG Sites as Putative Mediators for Genetic Influences on Cardiovascular Disease Risk. PMID:28985495
The SysteMHC Atlas project. PMID:28985418
TBX2 subfamily suppression in lung cancer pathogenesis: a high-potential marker for early detection. PMID:28978111
MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants. PMID:28977528
Association of TUSC1 and DPF3 gene polymorphisms with male infertility. PMID:28975488
Common TDP1 Polymorphisms in Relation to Survival among Small Cell Lung Cancer Patients: A Multicenter Study from the International Lung Cancer Consortium. PMID:28974547
Shared genetic regulatory networks for cardiovascular disease and type 2 diabetes in multiple populations of diverse ethnicities in the United States. PMID:28957322
Human hepatic gene expression signature of non-alcoholic fatty liver disease progression, a meta-analysis. PMID:28955037
Endoplasmic reticulum stress and eIF2α phosphorylation: The Achilles heel of pancreatic β cells. PMID:28951826
Whole Transcriptome Profiling: An RNA-Seq Primer and Implications for Pharmacogenomics Research. PMID:28945944
A molecular view of the normal human thyroid structure and function reconstructed from its reference transcriptome map. PMID:28923001
SIDT2 Transports Extracellular dsRNA into the Cytoplasm for Innate Immune Recognition. PMID:28916264
Association between polymorphisms of TAS2R16 and susceptibility to colorectal cancer. PMID:28915899
Transethnic insight into the genetics of glycaemic traits: fine-mapping results from the Population Architecture using Genomics and Epidemiology (PAGE) consortium. PMID:28905132
Genetic variants in PPP2CA are associated with gastric cancer risk in a Chinese population. PMID:28904398
Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performance. PMID:28902459
Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. PMID:28892062
Advances in single-cell RNA sequencing and its applications in cancer research. PMID:28881849
Pathogen lineage-based genome-wide association study identified CD53 as susceptible locus in tuberculosis. PMID:28878339
Genetic Associations with Gestational Duration and Spontaneous Preterm Birth. PMID:28877031
An xQTL map integrates the genetic architecture of the human brain's transcriptome and epigenome. PMID:28869584
Etv2 as an essential regulator of mesodermal lineage development. PMID:28859300
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. PMID:28859103
PharmGKB summary: very important pharmacogene information for ABCG2. PMID:28858993
Expression quantitative trait loci (eQTLs) in human placentas suggest developmental origins of complex diseases. PMID:28854703
Functional Analogy in Human Metabolism: Enzymes with Different Biological Roles or Functional Redundancy? PMID:28854631
The Mitonuclear Dimension of Neanderthal and Denisovan Ancestry in Modern Human Genomes. PMID:28854627
Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes. PMID:28851873
Sex-based differences in myocardial gene expression in recently deceased organ donors with no prior cardiovascular disease. PMID:28850583
Comprehensive Analyses of Tissue-Specific Networks with Implications to Psychiatric Diseases. PMID:28849569
Two modes of targeting transposable elements by piRNA pathway in human testis. PMID:28842508
Association between taste receptor (TAS) genes and the perception of wine characteristics. PMID:28835712
A systems approach for discovering linoleic acid derivatives that potentially mediate pain and itch. PMID:28831021
Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis. PMID:28829991
Network analyses identify liver-specific targets for treating liver diseases. PMID:28827398
Identification and characterization of tyrosine kinases in anole lizard indicate the conserved tyrosine kinase repertoire in vertebrates. PMID:28819830
Replication and validation of genetic polymorphisms associated with survival after allogeneic blood or marrow transplant. PMID:28811306
Analysis of genome-wide association data highlights candidates for drug repositioning in psychiatry. PMID:28805813
Integrative clinical genomics of metastatic cancer. PMID:28783718
CDK5 Regulatory Subunit-Associated Protein 1-like 1 Negatively Regulates Adipocyte Differentiation through Activation of Wnt Signaling Pathway. PMID:28779110
Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy. PMID:28778945
Using omics approaches to understand pulmonary diseases. PMID:28774304
Serum Neuroinflammatory Disease-Induced Central Nervous System Proteins Predict Clinical Onset of Experimental Autoimmune Encephalomyelitis. PMID:28769926
Trans-ancestry Fine Mapping and Molecular Assays Identify Regulatory Variants at the ANGPTL8 HDL-C GWAS Locus. PMID:28754724
A Genetic Variant Associated with Five Vascular Diseases Is a Distal Regulator of Endothelin-1 Gene Expression. PMID:28753427
Identification of Genetic Loci Jointly Influencing Schizophrenia Risk and the Cognitive Traits of Verbal-Numerical Reasoning, Reaction Time, and General Cognitive Function. PMID:28746715
Environment Changes Genetic Effects on Respiratory Conditions and Allergic Phenotypes. PMID:28740106
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. PMID:28735859
EINCR1 is an EGF inducible lincRNA overexpressed in lung adenocarcinomas. PMID:28732076
Identification of four prognostic LncRNAs for survival prediction of patients with hepatocellular carcinoma. PMID:28729955
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass. PMID:28724990
Genome-Wide Association Meta-Analysis Reveals Novel Juvenile Idiopathic Arthritis Susceptibility Loci. PMID:28719732
An erythroid-specific ATP2B4 enhancer mediates red blood cell hydration and malaria susceptibility. PMID:28714864
Systematic analysis of gene expression patterns associated with postmortem interval in human tissues. PMID:28710439
Genome-Wide Linkage Analysis of Large Multiple Multigenerational Families Identifies Novel Genetic Loci for Coronary Artery Disease. PMID:28710368
RNA-Seq investigations of human post-mortem trigeminal ganglia. PMID:28699403
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. PMID:28696212
Synthetic lethality between the cohesin subunits STAG1 and STAG2 in diverse cancer contexts. PMID:28691904
Network-based approaches that exploit inferred transcription factor activity to analyze the impact of genetic variation on gene expression. PMID:28691107
10 Years of GWAS Discovery: Biology, Function, and Translation. PMID:28686856
Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record. PMID:28686612
A molecular hypothesis to explain direct and inverse co-morbidities between Alzheimer's Disease, Glioblastoma and Lung cancer. PMID:28667284
Specific correlation between the major chromosome 10q26 haplotype conferring risk for age-related macular degeneration and the expression of HTRA1. PMID:28659708
TRAK2, a novel regulator of ABCA1 expression, cholesterol efflux and HDL biogenesis. PMID:28655204
NLRP1, PTPN22 and PADI4 gene polymorphisms and rheumatoid arthritis in ACPA-positive Singaporean Chinese. PMID:28653215
Sigma 2 Receptor/Tmem97 Agonists Produce Long Lasting Antineuropathic Pain Effects in Mice. PMID:28644012
Insufficient antibody validation challenges oestrogen receptor beta research. PMID:28643774
Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons. PMID:28640813
Genetic variants of cell cycle pathway genes predict disease-free survival of hepatocellular carcinoma. PMID:28639733
Genome-Wide Association Studies of Cancer in Diverse Populations. PMID:28637795
Overexpressed PRAME is a potential immunotherapy target in sarcoma subtypes. PMID:28630682
Genetic-epigenetic interactions in cis: a major focus in the post-GWAS era. PMID:28629478
Truncating mutations in RBM12 are associated with psychosis. PMID:28628109
A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease. PMID:28628103
Regulation of body weight and energy homeostasis by neuronal cell adhesion molecule 1. PMID:28628102
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. PMID:28625504
Epigenome-wide association study of chronic obstructive pulmonary disease and lung function in Koreans. PMID:28621160
Intronic SNP in ESR1 encoding human estrogen receptor alpha is associated with brain ESR1 mRNA isoform expression and behavioral traits. PMID:28617822
Clinical and Genome-Wide Analysis of Cisplatin-Induced Peripheral Neuropathy in Survivors of Adult-Onset Cancer. PMID:28611204
Development of next generation sequencing panel for UMOD and association with kidney disease. PMID:28609449
Cognitive Characterization of Schizophrenia Risk Variants Involved in Synaptic Transmission: Evidence of CACNA1C's Role in Working Memory. PMID:28607492
GeneHancer: genome-wide integration of enhancers and target genes in GeneCards. PMID:28605766
Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. PMID:28604728
Mining the Genome for Therapeutic Targets. PMID:28603140
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. PMID:28602422
Unique Allelic eQTL Clusters in Human MHC Haplotypes. PMID:28600441
ZAR1 is a novel epigenetically inactivated tumour suppressor in lung cancer. PMID:28588743
Identification of the functional variant driving ORMDL3 and GSDMB expression in human chromosome 17q12-21 in primary biliary cholangitis. PMID:28588209
Genome-wide meta-analysis of cognitive empathy: heritability, and correlates with sex, neuropsychiatric conditions and cognition. PMID:28584286
Identification of 15 novel risk loci for coronary artery disease and genetic risk of recurrent events, atrial fibrillation and heart failure. PMID:28584231
Challenges and progress in interpretation of non-coding genetic variants associated with human disease. PMID:28581336
A genome-wide association study meta-analysis of clinical fracture in 10,012 African American women. PMID:28580392
Genetic-Variation-Driven Gene-Expression Changes Highlight Genes with Important Functions for Kidney Disease. PMID:28575649
The genetics revolution in rheumatology: large scale genomic arrays and genetic mapping. PMID:28569263
Multi-omics analysis identifies ATF4 as a key regulator of the mitochondrial stress response in mammals. PMID:28566324
Generating testable hypotheses for schizophrenia and rheumatoid arthritis pathogenesis by integrating epidemiological, genomic, and protein interaction data. PMID:28560257
A CREB1 Gene Polymorphism (rs2253206) Is Associated with Prospective Memory in a Healthy Cohort. PMID:28559802
Late onset Alzheimer's disease genetics implicates microglial pathways in disease risk. PMID:28549481
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve. PMID:28541271
Genetic variants in the transcription regulatory region of MEGF10 are associated with autism in Chinese Han population. PMID:28536440
Gene expression variability and the analysis of large-scale RNA-seq studies with the MDSeq. PMID:28535263
HLA-A24 ligandome analysis of colon and lung cancer cells identifies a novel cancer-testis antigen and a neoantigen that elicits specific and strong CTL responses. PMID:28533942
GeMSTONE: orchestrated prioritization of human germline mutations in the cloud. PMID:28521008
Genome-Wide Association Study of Heavy Smoking and Daily/Nondaily Smoking in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). PMID:28520984
Genetic variants in the genes encoding rho GTPases and related regulators predict cutaneous melanoma-specific survival. PMID:28510328
In silico pathway analysis and tissue specific cis-eQTL for colorectal cancer GWAS risk variants. PMID:28506205
Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations. PMID:28503910
Genetic Variants in WNT2B and BTRC Predict Melanoma Survival. PMID:28499756
Soft Sweeps Are the Dominant Mode of Adaptation in the Human Genome. PMID:28482049
Confirmation of involvement of new variants at CDKN2A/B in pediatric acute lymphoblastic leukemia susceptibility in the Spanish population. PMID:28481918
Comparative transcriptomics in human and mouse. PMID:28479595
Multi-omics approaches to disease. PMID:28476144
Single cell RNA sequencing to dissect the molecular heterogeneity in lupus nephritis. PMID:28469080
Hypertension reduces soluble guanylyl cyclase expression in the mouse aorta via the Notch signaling pathway. PMID:28465505
Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions. PMID:28461624
Functional Analysis of the Coronary Heart Disease Risk Locus on Chromosome 21q22. PMID:28458444
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization. PMID:28454514
Identification of genes associated with dissociation of cognitive performance and neuropathological burden: Multistep analysis of genetic, epigenetic, and transcriptional data. PMID:28441426
Genome-wide meta-analysis identifies a novel susceptibility signal at CACNA2D3 for nicotine dependence. PMID:28440896
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. PMID:28436984
Phenome-wide association study for CYP2A6 alleles: rs113288603 is associated with hearing loss symptoms in elderly smokers. PMID:28432340
Functional genetic variant of WW domain-containing oxidoreductase (WWOX) gene is associated with hepatocellular carcinoma risk. PMID:28426730
The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome. PMID:28424481
A functional variant at the miRNA binding site in HMGB1 gene is associated with risk of oral squamous cell carcinoma. PMID:28423715
Germ-Cell-Specific Inflammasome Component NLRP14 Negatively Regulates Cytosolic Nucleic Acid Sensing to Promote Fertilization. PMID:28423339
The clinical value, regulatory mechanisms, and gene network of the cancer-testis gene STK31 in pancreatic cancer. PMID:28422722
Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. PMID:28416818
Polymorphisms in CARS are associated with gastric cancer risk: a two-stage case-control study in the Chinese population. PMID:28409418
Parkinson's disease-associated genetic variation is linked to quantitative expression of inflammatory genes. PMID:28407015
High-confidence coding and noncoding transcriptome maps. PMID:28396519
Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3. PMID:28391543
De novo RNA sequence assembly during in vivo inflammatory stress reveals hundreds of unannotated lincRNAs in human blood CD14+ monocytes and in adipose tissue. PMID:28389524
Non-linear patterns in age-related DNA methylation may reflect CD4+ T cell differentiation. PMID:28387568
Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility. PMID:28386063
Discovery of novel heart rate-associated loci using the Exome Chip. PMID:28379579
Drug repurposing from the perspective of pharmaceutical companies. PMID:28369768
Functional implications of Neandertal introgression in modern humans. PMID:28366169
Eosinophilic Esophagitis: A Primary Disease of the Esophageal Mucosa. PMID:28363400
Cis-eQTL-based trans-ethnic meta-analysis reveals novel genes associated with breast cancer risk. PMID:28362817
Non-coding cancer driver candidates identified with a sample- and position-specific model of the somatic mutation rate. PMID:28362259
Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. PMID:28358029
Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility. PMID:28346444
Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. PMID:28346443
Dysbindin Deficiency Modifies the Expression of GABA Neuron and Ion Permeation Transcripts in the Developing Hippocampus. PMID:28344592
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis. PMID:28335735
Lung function associated gene Integrator Complex subunit 12 regulates protein synthesis pathways. PMID:28335732
Visualizing the structure of RNA-seq expression data using grade of membership models. PMID:28333934
Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis. PMID:28333195
Genetic determinants of adiponectin regulation revealed by pregnancy. PMID:28317342
Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis. PMID:28314753
The RNA-binding protein Tristetraprolin (TTP) is a critical negative regulator of the NLRP3 inflammasome. PMID:28302726
Identification of a novel locus associated with skin colour in African-admixed populations. PMID:28300201
Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy. PMID:28296976
Genetics of primary sclerosing cholangitis and pathophysiological implications. PMID:28293027
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. PMID:28292896
Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders. PMID:28289279
Genetics of coronary artery disease: discovery, biology and clinical translation. PMID:28286336
Large-Scale trans-eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation. PMID:28285767
Imaging Genetics and Genomics in Psychiatry: A Critical Review of Progress and Potential. PMID:28283186
The birth of a human-specific neural gene by incomplete duplication and gene fusion. PMID:28279197
Rosiglitazone drives cavin-2/SDPR expression in adipocytes in a CEBPα-dependent manner. PMID:28278164
Effects of multiple genetic loci on the pathogenesis from serum urate to gout. PMID:28252667
Genome-wide analyses identify common variants associated with macular telangiectasia type 2. PMID:28250457
RNA-Sequencing data supports the existence of novel VEGFA splicing events but not of VEGFAxxxb isoforms. PMID:28246395
Role of DNA Methylation in Type 2 Diabetes Etiology: Using Genotype as a Causal Anchor. PMID:28246294
Impacts of Neanderthal-Introgressed Sequences on the Landscape of Human Gene Expression. PMID:28235201
Pathway-wide association study identifies five shared pathways associated with schizophrenia in three ancestral distinct populations. PMID:28221366
Genetic epidemiology in kidney disease. PMID:28201750
A genome-wide association study yields five novel thyroid cancer risk loci. PMID:28195142
GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway. PMID:28187132
The evolution and functional diversification of the deubiquitinating enzyme superfamily. PMID:28177072
Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics. PMID:28171547
Expression Quantitative Trait loci (QTL) in tumor adjacent normal breast tissue and breast tumor tissue. PMID:28152060
Genome-Wide Association Study of Polymorphisms Predisposing to Bronchiolitis. PMID:28139761
Polymorphisms in MicroRNA Binding Sites Predict Colorectal Cancer Survival. PMID:28138309
Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice. PMID:28132686
Genome-Scale Networks Link Neurodegenerative Disease Genes to α-Synuclein through Specific Molecular Pathways. PMID:28131822
Stably Expressed Genes Involved in Basic Cellular Functions. PMID:28125669
Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies. PMID:28122634
Genome-wide screen identifies a novel prognostic signature for breast cancer survival. PMID:28122328
Confidentiality in Biobanking Research: A Comparison of Donor and Nondonor Families' Understanding of Risks. PMID:28121471
The Long Noncoding RNA Landscape of the Ischemic Human Left Ventricle. PMID:28115490
Confirmation of five novel susceptibility loci for systemic lupus erythematosus (SLE) and integrated network analysis of 82 SLE susceptibility loci. PMID:28108556
Integrity of Induced Pluripotent Stem Cell (iPSC) Derived Megakaryocytes as Assessed by Genetic and Transcriptomic Analysis. PMID:28107356
A compendium of human genes regulating feeding behavior and body weight, its functional characterization and identification of GWAS genes involved in brain-specific PPI network. PMID:28105929
Primary Cell Culture of Live Neurosurgically Resected Aged Adult Human Brain Cells and Single Cell Transcriptomics. PMID:28099855
Genomics implicates adaptive and innate immunity in Alzheimer's and Parkinson's diseases. PMID:28097204
Transcriptomic profiling of purified patient-derived dopamine neurons identifies convergent perturbations and therapeutics for Parkinson's disease. PMID:28096185
CTRC gene polymorphism (p.G60=; c.180 C > T) in acute pancreatitis. PMID:28095786
GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium. PMID:28093568
Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy. PMID:28090653
Common variant rs356182 near SNCA defines a Parkinson's disease endophenotype. PMID:28078311
The protocadherin 17 gene affects cognition, personality, amygdala structure and function, synapse development and risk of major mood disorders. PMID:28070120
Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus. PMID:28062664
TBX5: A Key Regulator of Heart Development. PMID:28057264
RNA sequencing of archived neonatal dried blood spots. PMID:28053876
Molecular mechanisms underlying noncoding risk variations in psychiatric genetic studies. PMID:28044063
Gene-based analyses reveal novel genetic overlap and allelic heterogeneity across five major psychiatric disorders. PMID:28035465
Neuroblastoma survivors are at increased risk for second malignancies: A report from the International Neuroblastoma Risk Group Project. PMID:28033528
Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis. PMID:28029757
cerebroViz: an R package for anatomical visualization of spatiotemporal brain data. PMID:28011779
Common germline variants within the CDKN2A/2B region affect risk of pancreatic neuroendocrine tumors. PMID:28008994
Derivation of marker gene signatures from human skin and their use in the interpretation of the transcriptional changes associated with dermatological disorders. PMID:28008606
Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility. PMID:27996046
Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. PMID:27992413
Adaptive Chromatin Remodeling Drives Glioblastoma Stem Cell Plasticity and Drug Tolerance. PMID:27989769
XGR software for enhanced interpretation of genomic summary data, illustrated by application to immunological traits. PMID:27964755
Clinical and Biological Insights Into Combined Post- and Pre-Capillary Pulmonary Hypertension. PMID:27931609
Genetic Variants Associated with Circulating Parathyroid Hormone. PMID:27927781
The Application of Genomics in Diabetes: Barriers to Discovery and Implementation. PMID:27926887
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation. PMID:27918534
Brain transcriptome atlases: a computational perspective. PMID:27909802
Defining an olfactory receptor function in airway smooth muscle cells. PMID:27905542
Systematic analysis of chromatin interactions at disease associated loci links novel candidate genes to inflammatory bowel disease. PMID:27903283
Genome-Wide Interaction Analysis of Air Pollution Exposure and Childhood Asthma with Functional Follow-up. PMID:27901618
The UCSC Genome Browser database: 2017 update. PMID:27899642
Mendelian inheritance of trimodal CpG methylation sites suggests distal cis-acting genetic effects. PMID:27895808
Whole genome sequence analysis of serum amino acid levels. PMID:27884205
Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China. PMID:27876828
Alpha-2 macroglobulin in Alzheimer's disease: a marker of neuronal injury through the RCAN1 pathway. PMID:27872486
TACO produces robust multisample transcriptome assemblies from RNA-seq. PMID:27869815
Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations. PMID:27867202
Epigenetic and genetic components of height regulation. PMID:27848971
Genome-wide association study of paliperidone efficacy. PMID:27846195
Mergeomics: multidimensional data integration to identify pathogenic perturbations to biological systems. PMID:27814671
Evolutionary hallmarks of the human proteome: chasing the age and coregulation of protein-coding genes. PMID:27801289
A case study of an integrative genomic and experimental therapeutic approach for rare tumors: identification of vulnerabilities in a pediatric poorly differentiated carcinoma. PMID:27799065
3DSNP: a database for linking human noncoding SNPs to their three-dimensional interacting genes. PMID:27789693
Comprehensive Analysis of Established Dyslipidemia-Associated Loci in the Diabetes Prevention Program. PMID:27784733
Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions. PMID:27766536
Exploiting the neoantigen landscape for immunotherapy of pancreatic ductal adenocarcinoma. PMID:27762323
Genetic Research and Women's Heart Disease: a Primer. PMID:27726072
Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer. PMID:27723779
Genetic and transcriptional analysis of human host response to healthy gut microbiota. PMID:27709125
DIGIT Is a Conserved Long Noncoding RNA that Regulates GSC Expression to Control Definitive Endoderm Differentiation of Embryonic Stem Cells. PMID:27705785
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. PMID:27702942
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population. PMID:27694993
Flexible expressed region analysis for RNA-seq with derfinder. PMID:27694310
Somatic and Germline TP53 Alterations in Second Malignant Neoplasms from Pediatric Cancer Survivors. PMID:27683180
PDGFRα Regulates Follicular Cell Differentiation Driving Treatment Resistance and Disease Recurrence in Papillary Thyroid Cancer. PMID:27682510
Genome-wide association study of working memory brain activation. PMID:27671502
Genome-wide association study identifies pharmacogenomic loci linked with specific antihypertensive drug treatment and new-onset diabetes. PMID:27670767
Loss of RNA expression and allele-specific expression associated with congenital heart disease. PMID:27670201
Genetic Modifiers of Progression-Free Survival in Never-Smoking Lung Adenocarcinoma Patients Treated with First-Line Tyrosine Kinase Inhibitors. PMID:27669169
Genome-Wide Association Study of the Genetic Determinants of Emphysema Distribution. PMID:27669027
Characterization of candidate genes in inflammatory bowel disease-associated risk loci. PMID:27668286
Extraction and analysis of signatures from the Gene Expression Omnibus by the crowd. PMID:27667448
A Novel Tobacco Use Phenotype Suggests the 15q25 and 19q13 Loci May be Differentially Associated With Cigarettes per Day and Tobacco-Related Problems. PMID:27663783
Genome-wide association reveals that common genetic variation in the kallikrein-kinin system is associated with serum L-arginine levels. PMID:27656708
Functional genetic variant in the Kozak sequence of WW domain-containing oxidoreductase (WWOX) gene is associated with oral cancer risk. PMID:27655721
Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation. PMID:27640304
Genome-Wide Analysis Identifies IL-18 and FUCA2 as Novel Genes Associated with Diastolic Function in African Americans with Sickle Cell Disease. PMID:27636371
Peripheral Blood Transcriptomic Signatures of Fasting Glucose and Insulin Concentrations. PMID:27625022
GLITTER: a web-based application for gene link inspection through tissue-specific coexpression. PMID:27623690
Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients. PMID:27612591
Mergeomics: a web server for identifying pathological pathways, networks, and key regulators via multidimensional data integration. PMID:27612452
Identification of Four Novel Loci in Asthma in European American and African American Populations. PMID:27611488
A COL11A1-correlated pan-cancer gene signature of activated fibroblasts for the prioritization of therapeutic targets. PMID:27609069
CSF profiling of the human brain enriched proteome reveals associations of neuromodulin and neurogranin to Alzheimer's disease. PMID:27604409
ExonImpact: Prioritizing Pathogenic Alternative Splicing Events. PMID:27604408
Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs). PMID:27600471
Data sources for in vivo molecular profiling of human phenotypes. PMID:27599755
Genome-wide association study of antisocial personality disorder. PMID:27598967
Rail-RNA: scalable analysis of RNA-seq splicing and coverage. PMID:27592709
Complex Sources of Variation in Tissue Expression Data: Analysis of the GTEx Lung Transcriptome. PMID:27588449
Role of the host restriction factor APOBEC3 on papillomavirus evolution. PMID:27570633
Identification of a Bipolar Disorder Vulnerable Gene CHDH at 3p21.1. PMID:27562178
Cystatin C and Cardiovascular Disease: A Mendelian Randomization Study. PMID:27561768
Non-additive genome-wide association scan reveals a new gene associated with habitual coffee consumption. PMID:27561104
Recent evolution of the salivary mucin MUC7. PMID:27558399
A Tmprss2-CreERT2 Knock-In Mouse Model for Cancer Genetic Studies on Prostate and Colon. PMID:27536883
Genetic epidemiology of eating disorders. PMID:27532941
Genome-wide Association for Major Depression Through Age at Onset Stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium. PMID:27519822
Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate Cancer. PMID:27515689
Beyond Endometriosis Genome-Wide Association Study: From Genomics to Phenomics to the Patient. PMID:27513026
Meta-Analysis of Tourette Syndrome and Attention Deficit Hyperactivity Disorder Provides Support for a Shared Genetic Basis. PMID:27499730
Human ULK1 Variation and Susceptibility to Mycobacterium tuberculosis Infection. PMID:27485354
JNK Signaling: Regulation and Functions Based on Complex Protein-Protein Partnerships. PMID:27466283
Imputation of DNA Methylation Levels in the Brain Implicates a Risk Factor for Parkinson's Disease. PMID:27466229
ADAMTS14 Gene Polymorphism and Environmental Risk in the Development of Oral Cancer. PMID:27463966
Telomere structure and maintenance gene variants and risk of five cancer types. PMID:27459707
HKDC1 Is a Novel Hexokinase Involved in Whole-Body Glucose Use. PMID:27459389
Mapping Variation in Cellular and Transcriptional Response to 1,25-Dihydroxyvitamin D3 in Peripheral Blood Mononuclear Cells. PMID:27454520
Genome-wide association analysis of pain severity in dysmenorrhea identifies association at chromosome 1p13.2, near the nerve growth factor locus. PMID:27454463
Challenges and novel approaches for investigating molecular mediation. PMID:27439390
Genetic Investigation Into the Differential Risk of Atrial Fibrillation Among Black and White Individuals. PMID:27438321
Variance adaptive shrinkage (vash): flexible empirical Bayes estimation of variances. PMID:27436563
Consensus Genome-Wide Expression Quantitative Trait Loci and Their Relationship with Human Complex Trait Disease. PMID:27428252
A 3'UTR polymorphism marks differential KLRG1 mRNA levels through disruption of a miR-584-5p binding site and associates with pemphigus foliaceus susceptibility. PMID:27424220
Identification and validation of regulatory SNPs that modulate transcription factor chromatin binding and gene expression in prostate cancer. PMID:27409348
A Genetic Variant of the Sortilin 1 Gene is Associated with Reduced Risk of Alzheimer's Disease. PMID:27392867
Widespread parainflammation in human cancer. PMID:27386949
Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci. PMID:27386823
Heat*seq: an interactive web tool for high-throughput sequencing experiment comparison with public data. PMID:27378302
The harmonizome: a collection of processed datasets gathered to serve and mine knowledge about genes and proteins. PMID:27374120
Genetics and Genomics of Longitudinal Lung Function Patterns in Individuals with Asthma. PMID:27367781
A plethora of pleiotropy across complex traits. PMID:27350602
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. PMID:27346685
Transcriptomic analyses of genes and tissues in inherited sensory neuropathies. PMID:27343803
Exploiting expression patterns across multiple tissues to map expression quantitative trait loci. PMID:27341818
Associations Between Common and Rare Exonic Genetic Variants and Serum Levels of 20 Cardiovascular-Related Proteins: The Tromsø Study. PMID:27329291
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. PMID:27322543
Association of 3q13.32 variants with hip trochanter and intertrochanter bone mineral density identified by a genome-wide association study. PMID:27311723
The Evolution of Genetics: Alzheimer's and Parkinson's Diseases. PMID:27311081
Two genetic variants in telomerase-associated protein 1 are associated with stomach cancer risk. PMID:27305982
Computational approaches in target identification and drug discovery. PMID:27293534
Genetic variants in Alzheimer disease - molecular and brain network approaches. PMID:27282653
A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding. PMID:27259051
Serpin peptidase inhibitor (SERPINB5) haplotypes are associated with susceptibility to hepatocellular carcinoma. PMID:27221742
Identification of human RNA editing sites: A historical perspective. PMID:27208508
A human-specific AS3MT isoform and BORCS7 are molecular risk factors in the 10q24.32 schizophrenia-associated locus. PMID:27158905
Genome-Wide Analysis Identifies Germ-Line Risk Factors Associated with Canine Mammary Tumours. PMID:27158822
Rail-dbGaP: analyzing dbGaP-protected data in the cloud with Amazon Elastic MapReduce. PMID:27153614
Discovery of Genetic Variation on Chromosome 5q22 Associated with Mortality in Heart Failure. PMID:27149122
Colorectal cancer risk genes are functionally enriched in regulatory pathways. PMID:27146020
Cross-tissue Analysis of Gene and Protein Expression in Normal and Cancer Tissues. PMID:27142790
Five endometrial cancer risk loci identified through genome-wide association analysis. PMID:27135401
A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin. PMID:27132595
Genome-Wide Association of the Laboratory-Based Nicotine Metabolite Ratio in Three Ancestries. PMID:27113016
A genome-wide investigation of food addiction. PMID:27106561
A uniform survey of allele-specific binding and expression over 1000-Genomes-Project individuals. PMID:27089393
Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. PMID:27089181
Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy. PMID:27066583
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. PMID:27064256
An investigation of NFXL1, a gene implicated in a study of specific language impairment. PMID:27053962
Knockdown of Carboxypeptidase A6 in Zebrafish Larvae Reduces Response to Seizure-Inducing Drugs and Causes Changes in the Level of mRNAs Encoding Signaling Molecules. PMID:27050163
Genic insights from integrated human proteomics in GeneCards. PMID:27048349
Imputing Gene Expression in Uncollected Tissues Within and Beyond GTEx. PMID:27040689
Extracellular Vesicles from High-Grade Glioma Exchange Diverse Pro-oncogenic Signals That Maintain Intratumoral Heterogeneity. PMID:27013191
Genome-Wide Pharmacogenomic Study on Methadone Maintenance Treatment Identifies SNP rs17180299 and Multiple Haplotypes on CYP2B6, SPON1, and GSG1L Associated with Plasma Concentrations of Methadone R- and S-enantiomers in Heroin-Dependent Patients. PMID:27010727
Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. PMID:27005778
Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness. PMID:27001614
Derivation and differentiation of haploid human embryonic stem cells. PMID:26982723
Interleukin 6 SNP rs1800797 associates with the risk of adult-onset asthma. PMID:26938664
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. PMID:26928228
An Integrative Pharmacogenomic Approach Identifies Two-drug Combination Therapies for Personalized Cancer Medicine. PMID:26916442
Integrative Analysis of Multi-omics Data for Discovery and Functional Studies of Complex Human Diseases. PMID:26915271
Novel loci and pathways significantly associated with longevity. PMID:26912274
TSPAN5, ERICH3 and selective serotonin reuptake inhibitors in major depressive disorder: pharmacometabolomics-informed pharmacogenomics. PMID:26903268
From Loci to Biology: Functional Genomics of Genome-Wide Association for Coronary Disease. PMID:26892960
Novel genetic predictors of venous thromboembolism risk in African Americans. PMID:26888256
Gene expression inference with deep learning. PMID:26873929
A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology. PMID:26868379
Dietary Variation and Evolution of Gene Copy Number among Dog Breeds. PMID:26863414
Association of the IGF1 gene with fasting insulin levels. PMID:26860063
Bif-1 deficiency impairs lipid homeostasis and causes obesity accompanied by insulin resistance. PMID:26857140
Inter-tissue coexpression network analysis reveals DPP4 as an important gene in heart to blood communication. PMID:26856537
Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines. PMID:26856248
MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism. PMID:26829751
Quantification of private information leakage from phenotype-genotype data: linking attacks. PMID:26828419
A survey of best practices for RNA-seq data analysis. PMID:26813401
Understanding how non-coding genomic polymorphisms affect gene expression. PMID:26809843
Role of non-coding sequence variants in cancer. PMID:26781813
AURA 2: Empowering discovery of post-transcriptional networks. PMID:26779400
Squalene epoxidase is a bona fide oncogene by amplification with clinical relevance in breast cancer. PMID:26777065
PHENOME-WIDE INTERACTION STUDY (PheWIS) IN AIDS CLINICAL TRIALS GROUP DATA (ACTG). PMID:26776173
Exome Array Analysis Identifies a Common Variant in IL27 Associated with Chronic Obstructive Pulmonary Disease. PMID:26771213
How should we measure proportionality on relative gene expression data? PMID:26762323
Comprehensive analysis of schizophrenia-associated loci highlights ion channel pathways and biologically plausible candidate causal genes. PMID:26755824
Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules. PMID:26748517
Introgression of Neandertal- and Denisovan-like Haplotypes Contributes to Adaptive Variation in Human Toll-like Receptors. PMID:26748514
Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain. PMID:26743651
Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer. PMID:26740556
Genomic structure and expression of the human serotonin 2A receptor gene (HTR2A) locus: identification of novel HTR2A and antisense (HTR2A-AS1) exons. PMID:26738766
Common variation in atrial fibrillation: navigating the path from genetic association to mechanism. PMID:26733238
Common variants on 17q25 and gene-gene interactions conferring risk of schizophrenia in Han Chinese population and regulating gene expressions in human brain. PMID:26728569
Origins of De Novo Genes in Human and Chimpanzee. PMID:26720152
Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer. PMID:26719535
Shared genetic susceptibility of vascular-related biomarkers with ischemic and recurrent stroke. PMID:26718567
Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants. PMID:26694805
Taking Bioinformatics to Systems Medicine. PMID:26677177
Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke. PMID:26674333
A susceptibility locus rs7099208 is associated with non-obstructive azoospermia via reduction in the expression of FAM160B1. PMID:26668583
Identifying a Deletion Affecting Total Lung Capacity Among Subjects in the COPDGene Study Cohort. PMID:26643968
Convergent Lines of Evidence Support LRP8 as a Susceptibility Gene for Psychosis. PMID:26637325
Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation. PMID:26635082
Systematic pan-cancer analysis of tumour purity. PMID:26634437
Dynamic sensitivity and nonlinear interactions influence the system-level evolutionary patterns of phototransduction proteins. PMID:26631565
Identification of candidate genes for prostate cancer-risk SNPs utilizing a normal prostate tissue eQTL data set. PMID:26611117
The anatomical distribution of genetic associations. PMID:26586807
Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874. PMID:26584642
Functional analysis and transcriptional output of the Göttingen minipig genome. PMID:26573612
A Heritable Missense Polymorphism in CDKN2A Confers Strong Risk of Childhood Acute Lymphoblastic Leukemia and Is Preferentially Selected during Clonal Evolution. PMID:26527286
Decoding the non-coding genome: elucidating genetic risk outside the coding genome. PMID:26515765
rVarBase: an updated database for regulatory features of human variants. PMID:26503253
Promoter-like epigenetic signatures in exons displaying cell type-specific splicing. PMID:26498677
A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project. PMID:26484571
Identification of shared and unique susceptibility pathways among cancers of the lung, breast, and prostate from genome-wide association studies and tissue-specific protein interactions. PMID:26483192
Psychiatric genetics in China: achievements and challenges. PMID:26481319
Design and Implementation of the International Genetics and Translational Research in Transplantation Network. PMID:26479416
Expression Quantitative Trait Loci Information Improves Predictive Modeling of Disease Relevance of Non-Coding Genetic Variation. PMID:26474488
Multiple breast cancer risk variants are associated with differential transcript isoform expression in tumors. PMID:26472073
Recent advances in the pathological understanding of eosinophilic esophagitis. PMID:26470602
Public data and open source tools for multi-assay genomic investigation of disease. PMID:26463000
The eQTL-missense polymorphisms of APOBEC3H are associated with lung cancer risk in a Han Chinese population. PMID:26459911
Genome-wide association study of body mass index in subjects with alcohol dependence. PMID:26458734
A novel atlas of gene expression in human skeletal muscle reveals molecular changes associated with aging. PMID:26457177
Bayesian integration of genetics and epigenetics detects causal regulatory SNPs underlying expression variability. PMID:26456756
Many obesity-associated SNPs strongly associate with DNA methylation changes at proximal promoters and enhancers. PMID:26449484
Profiling RNA editing in human tissues: towards the inosinome Atlas. PMID:26449202
Molecular network of important genes for systemic sclerosis-related progressive lung fibrosis. PMID:26444860
Alternative transcription initiation leads to expression of a novel ALK isoform in cancer. PMID:26444240
Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence. PMID:26440539
A functional polymorphism in the CEBPE gene promoter influences acute lymphoblastic leukemia risk through interaction with the hematopoietic transcription factor Ikaros. PMID:26437776
Functional genomics bridges the gap between quantitative genetics and molecular biology. PMID:26430152
Enabling research with human embryonic and fetal tissue resources. PMID:26395135
Integrated multiomics approach identifies calcium and integrin-binding protein-2 as a novel gene for pulse wave velocity. PMID:26378684
Host genetic variation impacts microbiome composition across human body sites. PMID:26374288
Identification of Genes Whose Expression Profile Is Associated with Non-Progression towards AIDS Using eQTLs. PMID:26367535
Genetic variants of the autophagy pathway as prognostic indicators for prostate cancer. PMID:26365175
Identification of lung cancer histology-specific variants applying Bayesian framework variant prioritization approaches within the TRICL and ILCCO consortia. PMID:26363033
Identification of expression quantitative trait loci of RPTOR for susceptibility to glioma. PMID:26361958
Impact of a cis-associated gene expression SNP on chromosome 20q11.22 on bipolar disorder susceptibility, hippocampal structure and cognitive performance. PMID:26338991
Integration of 'omics' data in aging research: from biomarkers to systems biology. PMID:26331998
Allele-Selective Transcriptome Recruitment to Polysomes Primed for Translation: Protein-Coding and Noncoding RNAs, and RNA Isoforms. PMID:26331722
A Genome-Wide Association Study of Post-bronchodilator Lung Function in Children with Asthma. PMID:26325155
Signatures of miR-181a on the Renal Transcriptome and Blood Pressure. PMID:26322847
Polymorphism in miR-31 and miR-584 binding site in the angiotensinogen gene differentially influences body fat distribution in both sexes. PMID:26319141
Advances in computational approaches for prioritizing driver mutations and significantly mutated genes in cancer genomes. PMID:26307061
HdhQ111 Mice Exhibit Tissue Specific Metabolite Profiles that Include Striatal Lipid Accumulation. PMID:26295712
From genetics to treatment of eosinophilic esophagitis. PMID:26258919
A gene-based association method for mapping traits using reference transcriptome data. PMID:26258848
Comprehensive assembly of novel transcripts from unmapped human RNA-Seq data and their association with cancer. PMID:26253570
Myocardin Family Members Drive Formation of Caveolae. PMID:26244347
CFH Variants Affect Structural and Functional Brain Changes and Genetic Risk of Alzheimer's Disease. PMID:26243271
Rare coding variants and X-linked loci associated with age at menarche. PMID:26239645
Evidence of CNIH3 involvement in opioid dependence. PMID:26239289
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. PMID:26237428
An Essential Role of the Mitochondrial Electron Transport Chain in Cell Proliferation Is to Enable Aspartate Synthesis. PMID:26232224
Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite. PMID:26214589
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. PMID:26197441
PLD3 in Alzheimer's Disease: a Modest Effect as Revealed by Updated Association and Expression Analyses. PMID:26189833
Genetic architecture of colorectal cancer. PMID:26187503
A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough. PMID:26169577
HPASubC: A suite of tools for user subclassification of human protein atlas tissue images. PMID:26167380
Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders. PMID:26149713
Novel human ABCC9/SUR2 brain-expressed transcripts and an eQTL relevant to hippocampal sclerosis of aging. PMID:26115089
Expression quantitative trait locus analysis for translational medicine. PMID:26110023
Publisher’s Note:Abstraction for data integration:Fusing mammalian molecular, cellular and phenotype big datasets for better knowledge extraction. PMID:26101093
Loss-of-function variants in ATM confer risk of gastric cancer. PMID:26098866
Discovering What Dimensionality Reduction Really Tells Us About RNA-Seq Data. PMID:26098139
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. PMID:26094575
Association analysis of the Cadherin13 gene with schizophrenia in the Japanese population. PMID:26082635
Defining the Human Brain Proteome Using Transcriptomics and Antibody-Based Profiling with a Focus on the Cerebral Cortex. PMID:26076492
Genetic loci for serum magnesium among African-Americans and gene-environment interaction at MUC1 and TRPM6 in European-Americans: the Atherosclerosis Risk in Communities (ARIC) study. PMID:26058915
Inference of transcriptional regulation in cancers. PMID:26056275
Natural selection on HFE in Asian populations contributes to enhanced non-heme iron absorption. PMID:26054392
Tracks through the genome to physiological events. PMID:26053180
Accurate and fast multiple-testing correction in eQTL studies. PMID:26027500
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. PMID:26026149
Transcriptome outlier analysis implicates schizophrenia susceptibility genes and enriches putatively functional rare genetic variants. PMID:26022996
Dissecting the genetics of the human transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding loci†. PMID:26019233
Systematic transcriptome analysis reveals tumor-specific isoforms for ovarian cancer diagnosis and therapy. PMID:26015570
Gene variants associated with age at menopause are also associated with polycystic ovary syndrome, gonadotrophins and ovarian volume. PMID:25994816
MyProteinNet: build up-to-date protein interaction networks for organisms, tissues and user-defined contexts. PMID:25990735
RNA-Binding Proteins: Splicing Factors and Disease. PMID:25985083
Know your target, know your molecule. PMID:25978985
Calcium Channel CaVα₁ Splice Isoforms - Tissue Specificity and Drug Action. PMID:25966698
The cis and trans effects of the risk variants of coronary artery disease in the Chr9p21 region. PMID:25958224
Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels. PMID:25954321
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. PMID:25954003
Human genomics. The human transcriptome across tissues and individuals. PMID:25954002
Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. PMID:25954001
Two susceptibility loci identified for prostate cancer aggressiveness. PMID:25939597
ZNF804A Genetic Variation Confers Risk to Bipolar Disorder. PMID:25935703
Genome-wide association study of recalcitrant atopic dermatitis in Korean children. PMID:25935106
The impact of human copy number variation on gene expression. PMID:25922366
Stress and Bronchodilator Response in Children with Asthma. PMID:25918834
Cross-population joint analysis of eQTLs: fine mapping and functional annotation. PMID:25906321
RNA Sequencing and Analysis. PMID:25870306
Genome-wide association studies of late-onset cardiovascular disease. PMID:25870159
The Landscape of long noncoding RNA classification. PMID:25869999
GWAS for executive function and processing speed suggests involvement of the CADM2 gene. PMID:25869804
An integrated network of microRNA and gene expression in ovarian cancer. PMID:25860109
Family decision maker perspectives on the return of genetic results in biobanking research. PMID:25856669
New basal cell carcinoma susceptibility loci. PMID:25855136
Genetic conflict reflected in tissue-specific maps of genomic imprinting in human and mouse. PMID:25848752
Assessing the consistency of public human tissue RNA-seq data sets. PMID:25829468
Genome-wide association study of myelosuppression in non-small-cell lung cancer patients with platinum-based chemotherapy. PMID:25823687
Assessing allele-specific expression across multiple tissues from RNA-seq read data. PMID:25819081
SCAN database: facilitating integrative analyses of cytosine modification and expression QTL. PMID:25818895
Identification of a Novel Mucin Gene HCG22 Associated With Steroid-Induced Ocular Hypertension. PMID:25813999
The Genotype-Tissue Expression (GTEx) Project: Linking Clinical Data with Molecular Analysis to Advance Personalized Medicine. PMID:25809799
Sensitive detection of chromatin-altering polymorphisms reveals autoimmune disease mechanisms. PMID:25799442
Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders. PMID:25781962
Genetic variants in DNA repair genes as potential predictive markers for oxaliplatin chemotherapy in colorectal cancer. PMID:25778469
Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism. PMID:25772935
Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci. PMID:25766683
Systematic Integration of Brain eQTL and GWAS Identifies ZNF323 as a Novel Schizophrenia Risk Gene and Suggests Recent Positive Selection Based on Compensatory Advantage on Pulmonary Function. PMID:25759474
Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance. PMID:25757221
Whole-genome sequence-based analysis of thyroid function. PMID:25743335
Genome sequence-independent identification of RNA editing sites. PMID:25730491
Neuroepigenomics: Resources, Obstacles, and Opportunities. PMID:25722961
Genome-wide significant loci: how important are they? Systems genetics to understand heritability of coronary artery disease and other common complex disorders. PMID:25720628
High-Performance Mixed Models Based Genome-Wide Association Analysis with omicABEL software. PMID:25717363
The role of regulatory variation in complex traits and disease. PMID:25707927
Genetic variants in the Hippo pathway predict biochemical recurrence after radical prostatectomy for localized prostate cancer. PMID:25707771
Affinity proteomics discovers decreased levels of AMFR in plasma from Osteoporosis patients. PMID:25689831
Identification of common genetic variants controlling transcript isoform variation in human whole blood. PMID:25685889
Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease. PMID:25653287
GenoExp: a web tool for predicting gene expression levels from single nucleotide polymorphisms. PMID:25637557
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. PMID:25631608
DCAF4, a novel gene associated with leucocyte telomere length. PMID:25624462
Aberrant gene expression in humans. PMID:25617623
Association of breast cancer risk loci with breast cancer survival. PMID:25611573
Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study. PMID:25604533
Molecular and genetic properties of tumors associated with local immune cytolytic activity. PMID:25594174
Evolving Strategies for Target Selection for Antibody-Drug Conjugates. PMID:25585957
A genome-wide association study of chronic obstructive pulmonary disease in Hispanics. PMID:25584925
Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium. PMID:25524916
Molecular pathways: aspirin and Wnt signaling-a molecularly targeted approach to cancer prevention and treatment. PMID:25501125
Combining genetic and nongenetic biomarkers to realize the promise of pharmacogenomics for inflammatory diseases. PMID:25495413
Transcription restores DNA repair to heterochromatin, determining regional mutation rates in cancer genomes. PMID:25456125
Validating GWAS-Identified Risk Loci for Alzheimer's Disease in Han Chinese Populations. PMID:25452228
Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait. PMID:25439722
SNiPA: an interactive, genetic variant-centered annotation browser. PMID:25431330
Tissue-aware data integration approach for the inference of pathway interactions in metazoan organisms. PMID:25431329
Integrative genomics identifies 7p11.2 as a novel locus for fever and clinical stress response in humans. PMID:25416278
Comparison of the transcriptional landscapes between human and mouse tissues. PMID:25413365
GWAS identifies four novel eosinophilic esophagitis loci. PMID:25407941
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. PMID:25401298
GPA: a statistical approach to prioritizing GWAS results by integrating pleiotropy and annotation. PMID:25393678
Genome-wide scans of genetic variants for psychophysiological endophenotypes: a methodological overview. PMID:25387703
Common variants in the MKL1 gene confer risk of schizophrenia. PMID:25380769
Gene: a gene-centered information resource at NCBI. PMID:25355515
Integrative data mining highlights candidate genes for monogenic myopathies. PMID:25353622
Analytical tools and current challenges in the modern era of neuroepigenomics. PMID:25349914
The genomic landscape of polymorphic human nuclear mitochondrial insertions. PMID:25348406
Prediction of LDL cholesterol response to statin using transcriptomic and genetic variation. PMID:25316374
Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. PMID:25311508
Structural architecture of SNP effects on complex traits. PMID:25307299
A meta-analysis of gene expression quantitative trait loci in brain. PMID:25290266
Functional annotation of putative regulatory elements at cancer susceptibility Loci. PMID:25288875
World Endometriosis Research Foundation Endometriosis Phenome and Biobanking Harmonisation Project: IV. Tissue collection, processing, and storage in endometriosis research. PMID:25256928
Expression of ORAII, a plasma membrane resident subunit of the CRAC channel, in rodent and non-rodent species. PMID:25249026
The dystrophin gene and cognitive function in the general population. PMID:25227141
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. PMID:25225788
Genome-wide interrogation of longitudinal FEV1 in children with asthma. PMID:25221879
Identification of a regulatory variant that binds FOXA1 and FOXA2 at the CDC123/CAMK1D type 2 diabetes GWAS locus. PMID:25211022
Strategies for evaluating idiopathic inflammatory myopathy disease susceptibility genes. PMID:25182674
Cloning and expression of porcine β1,4 N-acetylgalactosaminyl transferase encoding a new xenoreactive antigen. PMID:25176027
Genetics of gene expression in CNS. PMID:25172476
Effects of GWAS-associated genetic variants on lncRNAs within IBD and T1D candidate loci. PMID:25144376
Disease mechanisms in rheumatology--tools and pathways: defining functional genetic variants in autoimmune diseases. PMID:25132667
Study of exonic variation identifies incremental information regarding lipid-related and coronary heart disease genes. PMID:25124323
Lean Big Data integration in systems biology and systems pharmacology. PMID:25109570
Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans. PMID:25079360
Distribution and medical impact of loss-of-function variants in the Finnish founder population. PMID:25078778
A novel MMP12 locus is associated with large artery atherosclerotic stroke using a genome-wide age-at-onset informed approach. PMID:25078452
Genomic research with the newly dead: a crossroads for ethics and policy. PMID:25040385
Integrative genomics reveals novel molecular pathways and gene networks for coronary artery disease. PMID:25033284
Annotation of functional variation within non-MHC MS susceptibility loci through bioinformatics analysis. PMID:25030428
Effects of long-term averaging of quantitative blood pressure traits on the detection of genetic associations. PMID:24975945
Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs. PMID:24973796
2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy. PMID:24937182
Genome-wide association analysis identifies six new loci associated with forced vital capacity. PMID:24929828
Grasping nettles: cellular heterogeneity and other confounders in epigenome-wide association studies. PMID:24927738
Single-cell RNA-seq highlights intratumoral heterogeneity in primary glioblastoma. PMID:24925914
RNA-seq permits a closer look at normal skin and psoriasis gene networks. PMID:24924757
Identification of methylation quantitative trait loci (mQTLs) influencing promoter DNA methylation of alcohol dependence risk genes. PMID:24889829
Changing genetic paradigms: creating next-generation genetic databases as tools to understand the emerging complexities of genotype/phenotype relationships. PMID:24885908
Vitamin D and the RNA transcriptome: more than mRNA regulation. PMID:24860511
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. PMID:24836286
Bicc1 is a genetic determinant of osteoblastogenesis and bone mineral density. PMID:24789909
Applying genome-wide gene-based expression quantitative trait locus mapping to study population ancestry and pharmacogenetics. PMID:24779372
ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. PMID:24770881
Determining causality and consequence of expression quantitative trait loci. PMID:24770875
Pharmacogenomics: novel loci identification via integrating gene differential analysis and eQTL analysis. PMID:24770851
Emerging directions in the genetics of atrial fibrillation. PMID:24763465
Identification of candidate susceptibility genes for colorectal cancer through eQTL analysis. PMID:24760461
National Cancer Institute Biospecimen Evidence-Based Practices: a novel approach to pre-analytical standardization. PMID:24749882
Expression quantitative trait analyses to identify causal genetic variants for type 2 diabetes susceptibility. PMID:24748924
Towards a molecular systems model of coronary artery disease. PMID:24743898
How Gene Networks Can Uncover Novel CVD Players. PMID:24683432
Chemotherapy-induced peripheral neurotoxicity and ototoxicity: new paradigms for translational genomics. PMID:24623533
Dissecting the causal genetic mechanisms of coronary heart disease. PMID:24623178
Recovering power in association mapping panels with variable levels of linkage disequilibrium. PMID:24532779
Unifying immunology with informatics and multiscale biology. PMID:24448569
Genomics of alternative splicing: evolution, development and pathophysiology. PMID:24378600
Systems genetics approaches to understand complex traits. PMID:24296534
Current status and new features of the Consensus Coding Sequence database. PMID:24217909
Systems biology approaches to epidemiological studies of complex diseases. PMID:24019288
An informatics approach to integrating genetic and neurological data in speech and language neuroscience. PMID:23949335
Refining susceptibility loci of chronic obstructive pulmonary disease with lung eqtls. PMID:23936167
Gene expression database scales up, providing baseline data. PMID:23836207
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genetic variation
metasource: bio.tools
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gene expression
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version: extracted_at: 2022-11-04T11:30:57.636780
biobank
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version: extracted_at: 2022-11-04T11:30:57.636780
genotype and phenotype
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:57.636780
rare diseases
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More detailed information about this field from each metasource.
genetic variation
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.636780
gene expression
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.636780
biobank
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.636780
genotype and phenotype
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.636780
rare diseases
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:57.636780
genetic variation gene expression biobank genotype and phenotype rare diseases
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