HaploReg

HaploReg is a tool for exploring annotations of the noncoding genome at variants on haplotype blocks, such as candidate regulatory SNPs at disease-associated loci. Using LD information from the 1000 Genomes Project, linked SNPs and small indels can be visualized along with chromatin state and protein binding annotation from the Roadmap Epigenomics and ENCODE projects, sequence conservation across mammals, the effect of SNPs on regulatory motifs, and the effect of SNPs on expression from eQTL studies. HaploReg is designed for researchers developing mechanistic hypotheses of the impact of non-coding variants on clinical phenotypes and normal variation.

Webpage:

http://compbio.mit.edu/HaploReg

Publications:

Publications
More detailed information about this field from each metasource.

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
PMID: 22064851
metasource: Fairsharing.org
version: FAIRsharing.org: HaploReg; HaploReg; DOI: https://doi.org/10.25504/FAIRsharing.x18jh7; Last edited: Jan. 8, 2019, 1:13 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease
PMID: 26657631
metasource: Fairsharing.org
version: FAIRsharing.org: HaploReg; HaploReg; DOI: https://doi.org/10.25504/FAIRsharing.x18jh7; Last edited: Jan. 8, 2019, 1:13 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

http://dx.doi.org/10.1093/nar/GKR917
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants PubMed citations: 1287.

1287 articles citing: HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

Genome-Wide Association Study of COVID-19 Outcomes Reveals Novel Host Genetic Risk Loci in the Serbian Population. PMID:35910207
RNA modification-related variants in genomic loci associated with body mass index. PMID:35879730
NRN1 Gene as a Potential Marker of Early-Onset Schizophrenia: Evidence from Genetic and Neuroimaging Approaches. PMID:35806464
Deciphering associations between three RNA splicing-related genetic variants and lung cancer risk. PMID:35773316
Discovery and Functional Characterization of Two Regulatory Variants Underlying Lupus Susceptibility at 2p13.1. PMID:35741778
Investigating the genetic architecture of eye colour in a Canadian cohort. PMID:35712076
Association between genetic variants of microRNA-21 and microRNA-155 and systemic lupus erythematosus: A case-control study from a Chinese population. PMID:35707883
FTO rs62033406 A>G associated with the risk of osteonecrosis of the femoral head among the Chinese Han population. PMID:35706030
Pleiotropic MLLT10 variation confers risk of meningioma and estrogen-mediated cancers. PMID:35702670
GATA4 and estrogen receptor alpha bind at SNPs rs9921222 and rs10794639 to regulate AXIN1 expression in osteoblasts. PMID:35678873
Allelic expression imbalance of PIK3CA mutations is frequent in breast cancer and prognostically significant. PMID:35676284
PUNISHER rs12318065 C>A transversion: a putative somatic driver mutation for poor prognosis in colon cancer. PMID:35670784
Genetic variants, gene expression, and soluble CD36 analysis in acute coronary syndrome: Differential protein concentration between ST-segment elevation myocardial infarction and unstable angina. PMID:35666553
Additive genetic effect of GCKR, G6PC2, and SLC30A8 variants on fasting glucose levels and risk of type 2 diabetes. PMID:35657990
High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease. PMID:35637384
Genome-Wide Association Study of Fluorescent Oxidation Products Accounting for Tobacco Smoking Status in Adults from the French EGEA Study. PMID:35624665
Shared genetic architectures of subjective well-being in East Asian and European ancestry populations. PMID:35589828
Identification of ATP2B4 Regulatory Element Containing Functional Genetic Variants Associated with Severe Malaria. PMID:35563239
Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study. PMID:35526034
Cumulative Evidence for Associations Between Genetic Variants in Interleukin 6 Receptor Gene and Human Diseases and Phenotypes. PMID:35493452
Estrogen-Related Receptor γ Maintains Pancreatic Acinar Cell Function and Identity by Regulating Cellular Metabolism. PMID:35461826
Associations between the C3orf20 rs12496846 Polymorphism and Both Postoperative Analgesia after Orthognathic and Abdominal Surgeries and C3orf20 Gene Expression in the Brain. PMID:35456561
Prognostic Value of LINC-ROR (rs1942347) Variant in Patients with Colon Cancer Harboring BRAF Mutation: A Propensity Score-Matched Analysis. PMID:35454158
Genome-Wide Interaction Study of Late-Onset Asthma With Seven Environmental Factors Using a Structured Linear Mixed Model in Europeans. PMID:35432474
The Impact of BCL11A Polymorphisms on Endometrial Cancer Risk Among Chinese Han Females. PMID:35418772
Genetic variants underlying differences in facial morphology in East Asian and European populations. PMID:35393595
Identification of genetic effects underlying type 2 diabetes in South Asian and European populations. PMID:35393509
An Evolutionary Insight Into the Heterogeneous Severity Pattern of the SARS-CoV-2 Infection. PMID:35391792
Translational Analysis of Moderate to Severe Asthma GWAS Signals Into Candidate Causal Genes and Their Functional, Tissue-Dependent and Disease-Related Associations. PMID:35386986
Valosin Containing Protein as a Specific Biomarker for Predicting the Development of Acute Coronary Syndrome and Its Complication. PMID:35369356
Admixture Mapping of Sepsis in European Individuals With African Ancestries. PMID:35345767
The Association between ABCG2 421C>A (rs2231142) Polymorphism and Rosuvastatin Pharmacokinetics: A Systematic Review and Meta-Analysis. PMID:35335877
Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin. PMID:35228297
Elevated Risk of Fluoropyrimidine-Associated Toxicity in European Patients with DPYD Genetic Polymorphism: A Systematic Review and Meta-Analysis. PMID:35207713
First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B. PMID:35199045
TRmir: A Comprehensive Resource for Human Transcriptional Regulatory Information of MiRNAs. PMID:35186035
Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer. PMID:35163215
CATA: a comprehensive chromatin accessibility database for cancer. PMID:35134148
BDNF Levels According to Variations in the CACNA1C Gene: Sex-Based Disparity. PMID:35128618
HLA variants associated with azathioprine-induced pancreatitis in patients with Crohn's disease. PMID:35120281
GWAS identifies candidate susceptibility loci and microRNA biomarkers for acute encephalopathy with biphasic seizures and late reduced diffusion. PMID:35079012
Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations. PMID:35064169
SLAMF6 is associated with the susceptibility and severity of rheumatoid arthritis in the Chinese population. PMID:35016729
Genetic associations with immune-mediated outcomes after allogeneic hematopoietic cell transplantation. PMID:34996099
Limb development genes underlie variation in human fingerprint patterns. PMID:34995520
Identification of a Risk Locus at 7p22.3 for Schizophrenia and Bipolar Disorder in East Asian Populations. PMID:34976021
Validating MARK2 Gene Polymorphism as a Predictor of Response to Lithium Treatment in Bipolar Patients. PMID:34953473
A Functional SNP in the Promoter of LBX1 Is Associated With the Development of Adolescent Idiopathic Scoliosis Through Involvement in the Myogenesis of Paraspinal Muscles. PMID:34917617
Estrogen receptor alpha and NFATc1 bind to a bone mineral density-associated SNP to repress WNT5B in osteoblasts. PMID:34906330
Targeted analysis of genomic regions enriched in African ancestry reveals novel classical HLA alleles associated with asthma in Southwestern Europeans. PMID:34880287
Association of Genetic Variant at Chromosome 12q23.1 With Neuropathic Pain Susceptibility. PMID:34854908
Heritability Enrichment of Immunoglobulin G N-Glycosylation in Specific Tissues. PMID:34804021
The genetic architecture of DNA replication timing in human pluripotent stem cells. PMID:34799581
Replication of European hypertension associations in a case-control study of 9,534 African Americans. PMID:34793544
The contribution of the LOC105371267 and MRPS30-DT genetic polymorphisms to IgA nephropathy in the Chinese Han population. PMID:34786099
IRF7 and RNH1 are modifying factors of HIV-1 reservoirs: a genome-wide association analysis. PMID:34781942
Association of microRNA-34a rs2666433 (A/G) Variant with Systemic Lupus Erythematosus in Female Patients: A Case-Control Study. PMID:34768615
Lupus susceptibility region containing CTLA4 rs17268364 functionally reduces CTLA4 expression by binding EWSR1 and correlates IFN-α signature. PMID:34736521
Multi-Ancestry Genome-wide Association Study Accounting for Gene-Psychosocial Factor Interactions Identifies Novel Loci for Blood Pressure Traits. PMID:34734193
Drug Repurposing for Atopic Dermatitis by Integration of Gene Networking and Genomic Information. PMID:34721386
Mendelian randomization to evaluate the effect of plasma vitamin C levels on the risk of Alzheimer's disease. PMID:34715780
Recent innovations and in-depth aspects of post-genome wide association study (Post-GWAS) to understand the genetic basis of complex phenotypes. PMID:34689168
The flashfm approach for fine-mapping multiple quantitative traits. PMID:34686674
Association between ADCY9 Gene Polymorphisms and Ritodrine Treatment Outcomes in Patients with Preterm Labor. PMID:34683946
Consistent Assignment of Risk and Benign Allele at rs2303153 in the CF Modifier Gene SCNN1B in Three Independent F508del-CFTR Homozygous Patient Populations. PMID:34680949
Genomic Risk Factors for Cervical Cancer. PMID:34680286
Detection of Neanderthal Adaptively Introgressed Genetic Variants That Modulate Reporter Gene Expression in Human Immune Cells. PMID:34662402
From GWAS to Gene: Transcriptome-Wide Association Studies and Other Methods to Functionally Understand GWAS Discoveries. PMID:34659337
Germline determinants of humoral immune response to HPV-16 protect against oropharyngeal cancer. PMID:34642315
HIF-1α Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions. PMID:34621299
Genome-wide analyses of multiple obesity-related cytokines and hormones informs biology of cardiometabolic traits. PMID:34620218
Bevacizumab-induced hypertension and proteinuria: a genome-wide study of more than 1000 patients. PMID:34616010
The role of glucocorticoid receptor gene in the association between attention deficit-hyperactivity disorder and smaller brain structures. PMID:34609638
Parallel functional testing identifies enhancers active in early postnatal mouse brain. PMID:34605404
Genetic discovery and risk characterization in type 2 diabetes across diverse populations. PMID:34604815
The proximal proteome of 17 SARS-CoV-2 proteins links to disrupted antiviral signaling and host translation. PMID:34597346
A genome-wide association study identifies a novel candidate locus at the DLGAP1 gene with susceptibility to resistant hypertension in the Japanese population. PMID:34593835
Systematic Evaluation of DNA Sequence Variations on in vivo Transcription Factor Binding Affinity. PMID:34567058
Genetic variation in genes regulating skeletal muscle regeneration and tissue remodelling associated with weight loss in chronic obstructive pulmonary disease. PMID:34523824
Genomic editing of metformin efficacy-associated genetic variants in SLC47A1 does not alter SLC47A1 expression. PMID:34505146
Association of Genetic Variants in miR-217 Gene with Risk of Coronary Artery Disease: A Case-Control Study. PMID:34483680
Relationship between genetically determined telomere length and glioma risk. PMID:34477880
Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment-Resistant Epilepsy. PMID:34464454
SNP rs4971059 predisposes to breast carcinogenesis and chemoresistance via TRIM46-mediated HDAC1 degradation. PMID:34459501
Parallel Reporter Assays Identify Altered Regulatory Role of rs684232 in Leading to Prostate Cancer Predisposition. PMID:34445492
Dysregulation of Synaptic Signaling Genes Is Involved in Biology of Uterine Leiomyoma. PMID:34440356
miR-155 T/A (rs767649) and miR-146a A/G (rs57095329) single nucleotide polymorphisms as risk factors for chronic hepatitis B virus infection among Egyptian patients. PMID:34437653
Identifying causal models between genetically regulated methylation patterns and gene expression in healthy colon tissue. PMID:34419169
A case-control study on correlation between the single nucleotide polymorphism of CLEC4E and the susceptibility to tuberculosis among Han people in Western China. PMID:34376176
Association between CYP3A5 Polymorphism and Statin-Induced Adverse Events: A Systemic Review and Meta-Analysis. PMID:34357144
A Genome-Wide Association Study of Age-Related Hearing Impairment in Middle- and Old-Aged Chinese Twins. PMID:34337005
Regulation of CYP3A4 and CYP3A5 by a lncRNA: a potential underlying mechanism explaining the association between CYP3A4*1G and CYP3A metabolism. PMID:34320606
Genome-Wide Association Study (GWAS) of dental caries in diverse populations. PMID:34311721
Genetic Analysis of Coronary Artery Disease Using Tree-Based Automated Machine Learning Informed By Biology-Based Feature Selection. PMID:34310318
A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer. PMID:34309201
Admixture mapping analysis reveals differential genetic ancestry associated with Chagas disease susceptibility in the Colombian population. PMID:34302177
Cell-type-specific meQTLs extend melanoma GWAS annotation beyond eQTLs and inform melanocyte gene-regulatory mechanisms. PMID:34293285
Genome-Wide Identification of RNA Modifications for Spontaneous Coronary Aortic Dissection. PMID:34276799
Hepcidin-regulating iron metabolism genes and pancreatic ductal adenocarcinoma: a pathway analysis of genome-wide association studies. PMID:34258619
Genome-wide Association Study of Estradiol Levels and the Causal Effect of Estradiol on Bone Mineral Density. PMID:34255042
A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1. PMID:34249922
Association of GTF2I, NFKB1, and TYK2 Regional Polymorphisms With Systemic Sclerosis in a Chinese Han Population. PMID:34248934
Associations of GWAS-Supported Non-MHC Genes with Autoimmune Thyroiditis in Patients with Type 1 Diabetes. PMID:34234497
DNA Repair Gene Polymorphisms and Chromosomal Aberrations in Exposed Populations. PMID:34220964
Genome-Wide Association Analyses Identify Variants in IRF4 Associated With Acute Myeloid Leukemia and Myelodysplastic Syndrome Susceptibility. PMID:34220922
Brain-Specific Gene Expression and Quantitative Traits Association Analysis for Mild Cognitive Impairment. PMID:34201204
Association of genetic variants of FBXO32 and FOXO6 in the FOXO pathway with breast cancer risk. PMID:34197655
Pharmacogenomic Effects of β-Blocker Use on Femoral Neck Bone Mineral Density. PMID:34195528
Causal inference for heritable phenotypic risk factors using heterogeneous genetic instruments. PMID:34157017
Integrative genomic analysis of N6-methyladenosine-single nucleotide polymorphisms (m6A-SNPs) associated with breast cancer. PMID:34151731
GWAS-linked hot loci predict short-term functional outcome and recurrence of ischemic stroke in Chinese population. PMID:34150032
Association Analysis of Variants of DSCAM and BACE2 With Hirschsprung Disease Susceptibility in Han Chinese and Functional Evaluation in Zebrafish. PMID:34136475
Association of Extracellular Signal-Regulated Kinase Genes With Myopia: A Longitudinal Study of Chinese Children. PMID:34122509
Association between NF-kB polymorphism and age-related macular degeneration in a high-altitude population. PMID:34101738
The Relationship Between Chemokine and Chemokine Receptor Genes Polymorphisms and Chronic Obstructive Pulmonary Disease Susceptibility in Tatar Population from Russia: A Case Control Study. PMID:34091786
Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family. PMID:34076780
Association of growth hormone receptor gene variant with longevity in men is due to amelioration of increased mortality risk from hypertension. PMID:34074802
Genetic variant in microRNA-146a gene is associated with risk of rheumatoid arthritis. PMID:34060972
Genetic evaluation of the variants using MassARRAY in non-small cell lung cancer among North Indians. PMID:34050209
Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys. PMID:34047840
Multiple-ancestry genome-wide association study identifies 27 loci associated with measures of hemolysis following blood storage. PMID:34014839
LOXL1 gene polymorphism candidates for exfoliation glaucoma are also associated with a risk for primary open-angle glaucoma in a Caucasian population from central Russia. PMID:34012228
A multi-omics study links TNS3 and SEPT7 to long-term former smoking NSCLC survival. PMID:34002017
3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies. PMID:33983923
Lupus Susceptibility Region Containing CDKN1B rs34330 Mechanistically Influences Expression and Function of Multiple Target Genes, Also Linked to Proliferation and Apoptosis. PMID:33982894
Selective sweep for an enhancer involucrin allele identifies skin barrier adaptation out of Africa. PMID:33963188
Multi-omic analysis elucidates the genetic basis of hydrocephalus. PMID:33951428
ZFP90 drives the initiation of colitis-associated colorectal cancer via a microbiota-dependent strategy. PMID:33947304
A web-based survey on various symptoms of computer vision syndrome and the genetic understanding based on a multi-trait genome-wide association study. PMID:33941792
Immunogenetic determinants of heterosexual HIV-1 transmission: key findings and lessons from two distinct African cohorts. PMID:33934119
A missense variant in NDUFA6 confers schizophrenia risk by affecting YY1 binding and NAGA expression. PMID:33931730
A Novel Low-Risk Germline Variant in the SH2 Domain of the SRC Gene Affects Multiple Pathways in Familial Colorectal Cancer. PMID:33916261
Beyond association: successes and challenges in linking non-coding genetic variation to functional consequences that modulate Alzheimer's disease risk. PMID:33882988
Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure. PMID:33859359
Genetic variations in the CTLA-4 immune checkpoint pathway are associated with colon cancer risk, prognosis, and immune infiltration via regulation of IQCB1 expression. PMID:33847778
Association of genetic variants of TMEM135 and PEX5 in the peroxisome pathway with cutaneous melanoma-specific survival. PMID:33842617
Lack of association of CD44-rs353630 and CHI3L2-rs684559 with pancreatic ductal adenocarcinoma survival. PMID:33828170
Exploring Common Therapeutic Targets for Neurodegenerative Disorders Using Transcriptome Study. PMID:33815473
Assessing the Function of the ZFP90 Variant rs1170426 in SLE and the Association Between SLE Drug Target and Susceptibility Genes. PMID:33796098
Chromatin Landscapes of Human Lung Cells Predict Potentially Functional Chronic Obstructive Pulmonary Disease Genome-Wide Association Study Variants. PMID:33788674
Omics data integration identifies ELOVL7 and MMD gene regions as novel loci for adalimumab response in patients with Crohn's disease. PMID:33750834
Lifespan extension conferred by mitogen-activated protein kinase kinase kinase 5 (MAP3K5) longevity-associated gene variation is confined to at-risk men with a cardiometabolic disease. PMID:33739303
Variants associated with HHIP expression have sex-differential effects on lung function. PMID:33728380
Comprehensive Integration of Genome-Wide Association and Gene Expression Studies Reveals Novel Gene Signatures and Potential Therapeutic Targets for Helicobacter pylori-Induced Gastric Disease. PMID:33717131
Common and Rare Variants Genetic Association Analysis of Circulating Neutrophil Extracellular Traps. PMID:33717105
A Functional Variant rs3093023 in CCR6 Is Associated With IgA Nephropathy by Regulating Th17 Cells in a North Han Chinese Population. PMID:33717080
Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. PMID:33713608
Integration of Alzheimer's disease genetics and myeloid genomics identifies disease risk regulatory elements and genes. PMID:33712570
Genetic Variation in WNT9B Increases Relapse Hazard in Multiple Sclerosis. PMID:33704824
Association Between rs12037447, rs146732504, rs151078858, rs55723436, and rs6094136 Polymorphisms and Kawasaki Disease in the Population of Polish Children. PMID:33692975
Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer. PMID:33673279
Colocalization analysis of polycystic ovary syndrome to identify potential disease-mediating genes and proteins. PMID:33664499
The ZNF76 rs10947540 polymorphism associated with systemic lupus erythematosus risk in Chinese populations. PMID:33664275
The proximal proteome of 17 SARS-CoV-2 proteins links to disrupted antiviral signaling and host translation. PMID:33655243
Susceptibility-Associated Genetic Variation in NEDD9 Contributes to Prostate Cancer Initiation and Progression. PMID:33632899
Trans-ethnic meta-analysis identifies new loci associated with longitudinal blood pressure traits. PMID:33603002
Interaction between G ALNT12 and C1GALT1 Associates with Galactose-Deficient IgA1 and IgA Nephropathy. PMID:33593824
Admixture mapping identifies African and Amerindigenous local ancestry loci associated with fetal growth. PMID:33590300
TLR4 promoter rs1927914 variant contributes to the susceptibility of esophageal squamous cell carcinoma in the Chinese population. PMID:33585082
Possible modification of BRSK1 on the risk of alkylating chemotherapy-related reduced ovarian function. PMID:33582778
Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts. PMID:33579919
Smoking Modifies Pancreatic Cancer Risk Loci on 2q21.3. PMID:33574088
Identification of Influential Variants in Significant Aggregate Rare Variant Tests. PMID:33567433
Elucidation of disease etiology by trans-layer omics analysis. PMID:33557957
A Systems Biology Approach for Hypothesizing the Effect of Genetic Variants on Neuroimaging Features in Alzheimer's Disease. PMID:33554913
A Genome-Wide Association Study Identifies Novel Susceptibility loci in Chronic Chagas Cardiomyopathy. PMID:33539531
Bivariate genome-wide association study (GWAS) of body mass index and blood pressure phenotypes in northern Chinese twins. PMID:33539483
Regulatory genomic circuitry of human disease loci by integrative epigenomics. PMID:33536621
Post-GWAS functional studies reveal an RA-associated CD40-induced NF-kB signal transduction and transcriptional regulation network targeted by class II HDAC inhibitors. PMID:33517445
Conceptualization of functional single nucleotide polymorphisms of polycystic ovarian syndrome genes: an in silico approach. PMID:33506367
Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders. PMID:33479212
Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes. PMID:33446885
Whole genome sequencing of 10K patients with acute ischaemic stroke or transient ischaemic attack: design, methods and baseline patient characteristics. PMID:33443231
A cross-platform approach identifies genetic regulators of human metabolism and health. PMID:33414548
Germline variants are associated with increased primary melanoma tumor thickness at diagnosis. PMID:33410475
Genetic Association of a Gain-of-Function IFNGR1 Polymorphism and the Intergenic Region LNCAROD/DKK1 With Behçet's Disease. PMID:33393726
A review of linc00673 as a novel lncRNA for tumor regulation. PMID:33390809
SLC46A1 Haplotype with Predicted Functional Impact has Prognostic Value in Breast Carcinoma. PMID:33387348
SARS-CoV-2 Receptor ACE2 Gene Is Associated with Hypertension and Severity of COVID 19: Interaction with Sex, Obesity, and Smoking. PMID:33386398
Genome-wide association study identifying novel variant for fasting insulin and allelic heterogeneity in known glycemic loci in Chilean adolescents: The Santiago Longitudinal Study. PMID:33381925
Genome-wide prioritization reveals novel gene signatures associated with cardiotoxic effects of tyrosine kinase inhibitors. PMID:33376527
Tumor necrosis factor (TNF)-α- 308 G/A gene polymorphism (rs1800629) in Egyptian patients with alopecia areata and vitiligo, a laboratory and in silico analysis. PMID:33370782
An Enhancer-Based Analysis Revealed a New Function of Androgen Receptor in Tumor Cell Immune Evasion. PMID:33343635
A Meta-Analysis on the Association Between TNFSF4 Polymorphisms (rs3861950 T > C and rs1234313 A > G) and Susceptibility to Coronary Artery Disease. PMID:33329013
Germline Variation and Somatic Alterations in Ewing Sarcoma. PMID:33326089
Genetic Determinants of Gating Functions: Do We Get Closer to Understanding Schizophrenia Etiopathogenesis? PMID:33324248
Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract. PMID:33311586
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
Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study. PMID:33308445
Germline variation in the insulin-like growth factor pathway and risk of Barrett's esophagus and esophageal adenocarcinoma. PMID:33300568
Cerebral small vessel disease genomics and its implications across the lifespan. PMID:33293549
MassArray analysis of genomic susceptibility variants in ovarian cancer. PMID:33273524
SNP-SNP Interaction in Genes Encoding PD-1/PD-L1 Axis as a Potential Risk Factor for Clear Cell Renal Cell Carcinoma. PMID:33255938
Genome-wide association study of prevalent and persistent cervical high-risk human papillomavirus (HPV) infection. PMID:33225922
Genetic Predictors of Severe Skin Toxicity in Patients with Stage III Colon Cancer Treated with Cetuximab: NCCTG N0147 (Alliance). PMID:33203692
Association of Alzheimer's disease risk variants on the PICALM gene with PICALM expression, core biomarkers, and feature neurodegeneration. PMID:33170153
Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits. PMID:33144568
Genome-Wide Association Study of Metamizole-Induced Agranulocytosis in European Populations. PMID:33138277
Polymorphisms in Processing and Antigen Presentation-Related Genes and Their Association with Host Susceptibility to Influenza A/H1N1 2009 Pandemic in a Mexican Mestizo Population. PMID:33138079
ATACdb: a comprehensive human chromatin accessibility database. PMID:33125076
Novel Data about Association of the Functionally Significant Polymorphisms of the MMP9 Gene with Exfoliation Glaucoma in the Caucasian Population of Central Russia. PMID:33099542
VARAdb: a comprehensive variation annotation database for human. PMID:33095866
Association of Uncommon, Noncoding Variants in the APOE Region With Risk of Alzheimer Disease in Adults of European Ancestry. PMID:33090224
The FAM171A2 gene is a key regulator of progranulin expression and modifies the risk of multiple neurodegenerative diseases. PMID:33087363
Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene. PMID:33055079
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
Genome-Wide Association Analysis of Neonatal White Matter Microstructure. PMID:33009551
A lead candidate functional single nucleotide polymorphism within the WARS2 gene associated with waist-hip-ratio does not alter RNA stability. PMID:33007465
RIPK1 gene variants associate with obesity in humans and can be therapeutically silenced to reduce obesity in mice. PMID:32989316
Three pleiotropic loci associated with bone mineral density and lean body mass. PMID:32970232
SIRT1 Gene SNP rs932658 Is Associated With Medication-Related Osteonecrosis of the Jaw. PMID:32967053
Loci identified by a genome-wide association study of carotid artery stenosis in the eMERGE network. PMID:32964493
Genetic variation associated with childhood and adult stature and risk of MYCN-amplified neuroblastoma. PMID:32945147
Identification of pleiotropic loci underlying hip bone mineral density and trunk lean mass. PMID:32929176
Variation in genes implicated in B-cell development and antibody production affects susceptibility to pemphigus. PMID:32926429
Sex-Specific Genetic Associations for Barrett's Esophagus and Esophageal Adenocarcinoma. PMID:32918910
Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways. PMID:32917770
Association of common genetic variants with brain microbleeds: A genome-wide association study. PMID:32913026
Genetic variants of BIRC3 and NRG1 in the NLRP3 inflammasome pathway are associated with non-small cell lung cancer survival. PMID:32905523
Glucagon-like peptide-1 receptor and sarcoglycan delta genetic variants can affect cardiovascular risk in chronic kidney disease patients under hemodialysis. PMID:32905248
Human genetic determinants of the gut microbiome and their associations with health and disease: a phenome-wide association study. PMID:32901066
Genome-wide Study Identifies Association between HLA-B∗55:01 and Self-Reported Penicillin Allergy. PMID:32888428
Multi-site Investigation of Genetic Determinants of Warfarin Dose Variability in Latinos. PMID:32860733
Ambient Temperature is A Strong Selective Factor Influencing Human Development and Immunity. PMID:32822870
A method for scoring the cell type-specific impacts of noncoding variants in personal genomes. PMID:32817564
Reconstructing the blood metabolome and genotype using long-range chromatin interactions. PMID:32812909
TNFSF4 is a risk factor to systemic lupus erythematosus in a Latin American population. PMID:32809147
Sex modifies the association between the CLOCK variant rs1801260 and BMI in school-age children. PMID:32785234
Joint testing of donor and recipient genetic matching scores and recipient genotype has robust power for finding genes associated with transplant outcomes. PMID:32783273
Using functional genomics to advance the understanding of psoriatic arthritis. PMID:32778885
Variants in SNAI1, AMDHD1 and CUBN in vitamin D pathway genes are associated with breast cancer risk: a large-scale analysis of 14 GWASs in the DRIVE study. PMID:32775008
Genetic associations of T cell cancer immune response-related genes with T cell phenotypes and clinical outcomes of early-stage lung cancer. PMID:32764075
Integration of GWAS and eQTL Analysis to Identify Risk Loci and Susceptibility Genes for Gastric Cancer. PMID:32754194
Polymorphisms in the Angiogenesis-Related Genes EFNB2, MMP2 and JAG1 Are Associated with Survival of Colorectal Cancer Patients. PMID:32751332
Four pleiotropic loci associated with fat mass and lean mass. PMID:32719433
Genetic variation in Charcot-Marie-Tooth genes contributes to sensitivity to paclitaxel-induced peripheral neuropathy. PMID:32700628
Early pregnancy dyslipidemia is associated with placental DNA methylation at loci relevant for cardiometabolic diseases. PMID:32677467
Turning genome-wide association study findings into opportunities for drug repositioning. PMID:32670504
Concentrations of persistent organic pollutants in maternal plasma and epigenome-wide placental DNA methylation. PMID:32653021
Genome-Wide Association Study Data Reveal Genetic Susceptibility to Chronic Inflammatory Intestinal Diseases and Pancreatic Ductal Adenocarcinoma Risk. PMID:32641412
Immune Cell Associations with Cancer Risk. PMID:32622267
Postadmixture Selection on Chileans Targets Haplotype Involved in Pigmentation, Thermogenesis and Immune Defense against Pathogens. PMID:32614437
Intronic Variants in OCT1 are Associated with All-Cause and Cardiovascular Mortality in Metformin Users with Type 2 Diabetes. PMID:32606866
Regulation of inflammation in diabetes: From genetics to epigenomics evidence. PMID:32603690
Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics. PMID:32581134
Four Loci Are Associated with Cardiorespiratory Fitness and Endurance Performance in Young Chinese Females. PMID:32572135
Genetic variants associated with alcohol dependence co-ordinate regulation of ADH genes in gastrointestinal and adipose tissues. PMID:32555468
ERCC2 gene single-nucleotide polymorphism as a prognostic factor for locally advanced head and neck carcinomas after definitive cisplatin-based radiochemotherapy. PMID:32546699
IL-1B rs2853550 polymorphism contributes to esophageal cancer susceptibility in Chinese Han population of Northwest China. PMID:32527212
Genetics of Gene Expression in the Aging Human Brain Reveal TDP-43 Proteinopathy Pathophysiology. PMID:32526197
Non-canonical RNA-DNA differences and other human genomic features are enriched within very short tandem repeats. PMID:32511223
Whole-exome sequencing and genome-wide association studies identify novel sarcopenia risk genes in Han Chinese. PMID:32478482
Leveraging Genome and Phenome-Wide Association Studies to Investigate Genetic Risk of Acute Lymphoblastic Leukemia. PMID:32467347
A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer. PMID:32467344
Genomic resources for dissecting the role of non-protein coding variation in gene-environment interactions. PMID:32450112
Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction. PMID:32439900
DNA Variant in the RPGRIP1L Gene Influences Alternative Splicing. PMID:32399473
Genetic Polymorphisms, Mediterranean Diet and Microbiota-Associated Urolithin Metabotypes can Predict Obesity in Childhood-Adolescence. PMID:32398726
Knowledge-based analyses reveal new candidate genes associated with risk of hepatitis B virus related hepatocellular carcinoma. PMID:32393195
Smoking-by-genotype interaction in type 2 diabetes risk and fasting glucose. PMID:32379818
Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci. PMID:32372009
Mapping DNA interaction landscapes in psoriasis susceptibility loci highlights KLF4 as a target gene in 9q31. PMID:32366252
Role of OPRM1, clinical and anthropometric variants in neonatal pain reduction. PMID:32341423
Phenotypic and functional translation of IL1RL1 locus polymorphisms in lung tissue and asthmatic airway epithelium. PMID:32324168
Pleiotropic loci underlying bone mineral density and bone size identified by a bivariate genome-wide association analysis. PMID:32314116
Telomere Maintenance Genes are associated with Type 2 Diabetes Susceptibility in Northwest Indian Population Group. PMID:32296102
Sorting nexin 1 loss results in increased oxidative stress and hypertension. PMID:32293069
Two novel pleiotropic loci associated with osteoporosis and abdominal obesity. PMID:32239398
Evolutionary Selection and Constraint on Human Knee Chondrocyte Regulation Impacts Osteoarthritis Risk. PMID:32220312
Genetic variants in epithelial-mesenchymal transition genes as predictors of clinical outcomes in localized prostate cancer. PMID:32215555
Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing. PMID:32211398
Global and Regional Development of the Human Cerebral Cortex: Molecular Architecture and Occupational Aptitudes. PMID:32198502
Identification of a functional human-unique 351-bp Alu insertion polymorphism associated with major depressive disorder in the 1p31.1 GWAS risk loci. PMID:32193514
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error. PMID:32193507
Further confirmation of netrin 1 receptor (DCC) as a depression risk gene via integrations of multi-omics data. PMID:32184385
Association of 3p27.1 Variants with Whole Body Lean Mass Identified by a Genome-wide Association Study. PMID:32152362
The decreased expression of IKBKE in systemic lupus erythematosus. PMID:32146614
Association of ECE1 gene polymorphisms and essential hypertension risk in the Northern Han Chinese: A case-control study. PMID:32107880
Hyperprogression under Immune Checkpoint Inhibitor: a potential role for germinal immunogenetics. PMID:32107407
Disentangling the genetics of sarcopenia: prioritization of NUDT3 and KLF5 as genes for lean mass & HLA-DQB1-AS1 for hand grip strength with the associated enhancing SNPs & a scoring system. PMID:32093658
Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment. PMID:32080354
Potentially functional genetic variants in PLIN2, SULT2A1 and UGT1A9 genes of the ketone pathway and survival of nonsmall cell lung cancer. PMID:32072637
Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma. PMID:32041948
A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn's disease. PMID:32024964
Influence of Germline Genetics on Tacrolimus Pharmacokinetics and Pharmacodynamics in Allogeneic Hematopoietic Stem Cell Transplant Patients. PMID:32013193
Epistatic interaction between PKD2 and ABCG2 influences the pathogenesis of hyperuricemia and gout. PMID:32000861
Effect of SNPs in HSP Family Genes, Variation in the mRNA and Intracellular Hsp Levels in COPD Secondary to Tobacco Smoking and Biomass-Burning Smoke. PMID:31993068
The derived allele of a novel intergenic variant at chromosome 11 associates with lower body mass index and a favorable metabolic phenotype in Greenlanders. PMID:31978080
Osteoporosis- and obesity-risk interrelationships: an epigenetic analysis of GWAS-derived SNPs at the developmental gene TBX15. PMID:31975641
Systematic analyses of genetic variants in chromatin interaction regions identified four novel lung cancer susceptibility loci. PMID:31956354
Candidate Causal Variants at the 8p12 Breast Cancer Risk Locus Regulate DUSP4. PMID:31936698
A meta-analysis of genome-wide association studies of multiple myeloma among men and women of African ancestry. PMID:31935283
Association between variant alleles of major histocompatibility complex class II regulatory genes and nasopharyngeal carcinoma susceptibility. PMID:31922974
Integration analysis of methylation quantitative trait loci and GWAS identify three schizophrenia risk variants. PMID:31910432
Bivariate genome-wide association analysis identified three pleiotropic loci underlying osteoporosis and obesity. PMID:31903547
Comparative and Functional Genomic Resource for Mechanistic Studies of Human Blood Pressure-Associated Single Nucleotide Polymorphisms. PMID:31902252
The rs594445 in MOCOS gene is associated with risk of autism spectrum disorder. PMID:31900757
A variant near DHCR24 associates with microstructural properties of white matter and peripheral lipid metabolism in adolescents. PMID:31900429
Association of DIAPH1 gene polymorphisms with ischemic stroke. PMID:31899686
A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans. PMID:31891604
Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts. PMID:31883642
Associations Between Two Single-Nucleotide Polymorphisms in NINJ2 Gene and Risk of Psychiatric Disorders. PMID:31873837
RSAT variation-tools: An accessible and flexible framework to predict the impact of regulatory variants on transcription factor binding. PMID:31871587
Genome-wide association study in Chinese cohort identifies one novel hypospadias risk associated locus at 12q13.13. PMID:31856834
Association of Genetic Variation With Keratoconus. PMID:31855235
A phenomics-based approach for the detection and interpretation of shared genetic influences on 29 biochemical indices in southern Chinese men. PMID:31842750
Refining genome-wide associated loci for serum uric acid in individuals with African ancestry. PMID:31841133
Identification of a functional 339 bp Alu insertion polymorphism in the schizophrenia-associated locus at 10q24.32. PMID:31840948
PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate. PMID:31825181
Complement Receptor 1 (CR1, CD35) Polymorphisms and Soluble CR1: A Proposed Anti-inflammatory Role to Quench the Fire of "Fogo Selvagem" Pemphigus Foliaceus. PMID:31824479
Genetic variation in EPHA contributes to sensitivity to paclitaxel-induced peripheral neuropathy. PMID:31823378
The depression GWAS risk allele predicts smaller cerebellar gray matter volume and reduced SIRT1 mRNA expression in Chinese population. PMID:31819045
Genetic Variant Associated With Survival of Patients With Stage II-III Colon Cancer. PMID:31811950
Investigating the energy crisis in Alzheimer disease using transcriptome study. PMID:31811163
NAT1 genetic variation increases asthma risk in children with secondhand smoke exposure. PMID:31809667
Genome-wide meta-analysis of variant-by-diuretic interactions as modulators of lipid traits in persons of European and African ancestry. PMID:31806883
Multi-trait genome-wide association study identifies new loci associated with optic disc parameters. PMID:31798171
Genetics of cognitive trajectory in Brazilians: 15 years of follow-up from the Bambuí-Epigen Cohort Study of Aging. PMID:31792241
Fine mapping and identification of serum urate loci in American Indians: The Strong Heart Family Study. PMID:31784582
RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants. PMID:31779641
ANRIL Variants Are Associated with Risk of Neuropsychiatric Conditions. PMID:31773399
Association of Regulatory Genetic Variants for Protein Kinase Cα with Mortality and Drug Efficacy in Patients with Heart Failure. PMID:31728800
The genome-wide risk alleles for psychiatric disorders at 3p21.1 show convergent effects on mRNA expression, cognitive function, and mushroom dendritic spine. PMID:31723243
Functional association between NUCKS1 gene and Parkinson disease: A potential susceptibility biomarker. PMID:31719764
Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration. PMID:31719535
Novel genetic variants in HDAC2 and PPARGC1A of the CREB-binding protein pathway predict survival of non-small-cell lung cancer. PMID:31713888
Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning. PMID:31699087
A non-coding genetic variant associated with abdominal aortic aneurysm alters ERG gene regulation. PMID:31691800
MAP3K1 rs889312 genotypes influence survival outcomes of Chinese gastric cancer patients who received adjuvant chemotherapy based on platinum and fluorouracil regimes. PMID:31686841
Three Novel Loci for Infant Head Circumference Identified by a Joint Association Analysis. PMID:31681408
Condemned or Not to Die? Gene Polymorphisms Associated With Cell Death in Pemphigus Foliaceus. PMID:31681304
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. PMID:31672989
Clinical and Genetic Predictors of Priapism in Sickle Cell Disease: Results from the Recipient Epidemiology and Donor Evaluation Study III Brazil Cohort Study. PMID:31668730
Single-nucleotide polymorphism rs13426236 contributes to an increased prostate cancer risk via regulating MLPH splicing variant 4. PMID:31659808
A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context. PMID:31636271
GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation. PMID:31624269
Genetic and Expression Analysis of COPI Genes and Alzheimer's Disease Susceptibility. PMID:31608112
Novel Genetic Locus Influencing Retinal Venular Tortuosity Is Also Associated With Risk of Coronary Artery Disease. PMID:31597446
Embracing study heterogeneity for finding genetic interactions in large-scale research consortia. PMID:31583758
Integrating Genome-Wide Association Studies With Pathway Analysis and Gene Expression Analysis Highlights Novel Osteoarthritis Risk Pathways and Genes. PMID:31572443
Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits. PMID:31570892
Leveraging Human Genetics to Estimate Clinical Risk Reductions Achievable by Inhibiting Factor XI. PMID:31558144
Genetic Basis of Obesity and Type 2 Diabetes in Africans: Impact on Precision Medicine. PMID:31520154
Genome-wide association study of circulating folate one-carbon metabolites. PMID:31502714
A genome-wide association study of cocaine use disorder accounting for phenotypic heterogeneity and gene–environment interaction. PMID:31490055
Pneumonia: host susceptibility and shared genetics with pulmonary function and other traits. PMID:31487037
Exploring Shared Susceptibility between Two Neural Crest Cells Originating Conditions: Neuroblastoma and Congenital Heart Disease. PMID:31480262
A method for genome-wide genealogy estimation for thousands of samples. PMID:31477933
Genome-wide association studies identify polygenic effects for completed suicide in the Japanese population. PMID:31476763
Both HLA class I and II regions identified as genome-wide significant susceptibility loci for adult-onset Still's disease in Chinese individuals. PMID:31471296
Polymorphisms in Long Noncoding RNA-Prostate Cancer-Associated Transcript 1 Are Associated with Lung Cancer Susceptibility in a Northeastern Chinese Population. PMID:31464517
Whole-Genome Sequencing of Childhood Cancer Survivors Treated with Cranial Radiation Therapy Identifies 5p15.33 Locus for Stroke: A Report from the St. Jude Lifetime Cohort Study. PMID:31462438
Differential associations of allergic disease genetic variants with developmental profiles of eczema, wheeze and rhinitis. PMID:31441980
Genetic variants in glutamine metabolic pathway genes predict cutaneous melanoma-specific survival. PMID:31435991
The Role of MIR9-2 in Shared Susceptibility of Psychiatric Disorders during Childhood: A Population-Based Birth Cohort Study. PMID:31434288
Potential Interplay between Dietary Saturated Fats and Genetic Variants of the NLRP3 Inflammasome to Modulate Insulin Resistance and Diabetes Risk: Insights from a Meta-Analysis of 19 005 Individuals. PMID:31432628
Genome-wide association study of cerebral small vessel disease reveals established and novel loci. PMID:31430377
DNA methylation-based estimator of telomere length. PMID:31422385
Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. PMID:31420334
Gene-gene interaction among cell adhesion genes and risk of nonsyndromic cleft lip with or without cleft palate in Chinese case-parent trios. PMID:31419083
Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development. PMID:31417368
The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk. PMID:31413141
Targeted sequencing of linkage region in Dominican families implicates PRIMA1 and the SPATA7-PTPN21-ZC3H14-EML5-TTC8 locus in carotid-intima media thickness and atherosclerotic events. PMID:31406157
A genome-wide association study identifies genetic loci associated with specific lobar brain volumes. PMID:31396565
Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding. PMID:31375681
Predicting the effects of SNPs on transcription factor binding affinity. PMID:31373606
Genetic predictors of chemotherapy-related amenorrhea in women with breast cancer. PMID:31371054
Mapping cis-regulatory chromatin contacts in neural cells links neuropsychiatric disorder risk variants to target genes. PMID:31367015
Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome. PMID:31350265
Associations among NPPA gene polymorphisms, serum ANP levels, and hypertension in the Chinese Han population. PMID:31341238
Effects of PDE4 gene polymorphisms on efficacy and adverse drug events of ritodrine therapy in preterm labor patients: a prospective observational study. PMID:31324945
Single-Nucleotide Polymorphisms Sequencing Identifies Candidate Functional Variants at Prostate Cancer Risk Loci. PMID:31323811
Integrative analysis revealed potential causal genetic and epigenetic factors for multiple sclerosis. PMID:31321514
Exploration of a diversity of computational and statistical measures of association for genome-wide genetic studies. PMID:31320928
A Combined Transcriptomic and Genomic Analysis Identifies a Gene Signature Associated With the Response to Anti-TNF Therapy in Rheumatoid Arthritis. PMID:31312201
GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network. PMID:31311600
TNFAIP3 genetic polymorphisms reduce ankylosing spondylitis risk in Eastern Chinese Han population. PMID:31308453
Biological characterization of expression quantitative trait loci (eQTLs) showing tissue-specific opposite directional effects. PMID:31296926
Associations of IDUA and PTCH1 with Bone Mineral Density, Bone Turnover Markers, and Fractures in Chinese Elderly Patients with Osteoporosis. PMID:31275456
The research of ion channel-related gene polymorphisms with atrial fibrillation in the Chinese Han population. PMID:31270966
ARMC 5 Variants and Risk of Hypertension in Blacks: MH- GRID Study. PMID:31266387
Neutrophil GM-CSF signaling in inflammatory bowel disease patients is influenced by non-coding genetic variants. PMID:31235766
Predicting functional variants in enhancer and promoter elements using RegulomeDB. PMID:31228310
Different Methylation of CpG-SNPs in Behcet's Disease. PMID:31223615
[Exploring the association between SPRY gene family and non-syndromic oral clefts among Chinese populations using data of a next-generation sequencing study]. PMID:31209432
Mechanistic Characterization of RASGRP1 Variants Identifies an hnRNP-K-Regulated Transcriptional Enhancer Contributing to SLE Susceptibility. PMID:31164884
Human genes influence the interaction between Streptococcus mutans and host caries susceptibility: a genome-wide association study in children with primary dentition. PMID:31148553
A comparison of two workflows for regulome and transcriptome-based prioritization of genetic variants associated with myocardial mass. PMID:31145509
A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure. PMID:31127295
QBiC-Pred: quantitative predictions of transcription factor binding changes due to sequence variants. PMID:31114870
Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes. PMID:31114635
epiTAD: a web application for visualizing chromosome conformation capture data in the context of genetic epidemiology. PMID:31099399
Genome-wide association study identifies novel loci for type 2 diabetes-attributed end-stage kidney disease in African Americans. PMID:31092297
Fine-mapping of a novel premenopausal breast cancer susceptibility locus at Chr4q31.22 in Caucasian women and validation in African and Chinese women. PMID:31087647
Benefits and limitations of genome-wide association studies. PMID:31068683
TAGOOS: genome-wide supervised learning of non-coding loci associated to complex phenotypes. PMID:31045203
Association of OXTR rs53576 with the Developmental Trajectories of Callous-Unemotional Traits and Stressful Life Events in 3- to 9-Year-Old Community Children. PMID:31030321
Systems Approach to Identify Common Genes and Pathways Associated with Response to Selective Serotonin Reuptake Inhibitors and Major Depression Risk. PMID:31018568
Tetraspanin CD82 Organizes Dectin-1 into Signaling Domains to Mediate Cellular Responses to Candida albicans. PMID:31010852
FeatSNP: An Interactive Database for Brain-Specific Epigenetic Annotation of Human SNPs. PMID:31001319
Genetic variants in the liver kinase B1-AMP-activated protein kinase pathway genes and pancreatic cancer risk. PMID:30997723
Chromatin Conformation Links Putative Enhancers in Intracranial Aneurysm-Associated Regions to Potential Candidate Genes. PMID:30994044
Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep. PMID:30990817
Potentially functional genetic variants in the TNF/TNFR signaling pathway genes predict survival of patients with non-small cell lung cancer in the PLCO cancer screening trial. PMID:30989732
The rs17084733 variant in the KIT 3' UTR disrupts a miR-221/222 binding site in gastrointestinal stromal tumour: a sponge-like mechanism conferring disease susceptibility. PMID:30983504
Three novel genetic variants in NRF2 signaling pathway genes are associated with pancreatic cancer risk. PMID:30972876
Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils. PMID:30972099
Clinical and Genome-wide Analysis of Cisplatin-induced Tinnitus Implicates Novel Ototoxic Mechanisms. PMID:30952644
Shared genetic underpinnings of childhood obesity and adult cardiometabolic diseases. PMID:30947744
Identification of microsatellite markers and their application in yellow catfish (Pseudobagrus fulvidraco Richardson, 1846) population genetics of Korea. PMID:30945683
Germline Genetic Variants in GATA3 and Breast Cancer Treatment Outcomes in SWOG S8897 Trial and the Pathways Study. PMID:30928413
Diabetes and cancer risk: A Mendelian randomization study. PMID:30927373
Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. PMID:30926973
Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol. PMID:30924126
Genome-Wide Association Study in Irradiated Childhood Cancer Survivors Identifies HTR2A for Subsequent Basal Cell Carcinoma. PMID:30910758
X-chromosome association study reveals genetic susceptibility loci of nasopharyngeal carcinoma. PMID:30909962
Disease-Associated SNPs in Inflammation-Related lncRNAs. PMID:30906297
Haploinsufficiency of ARHGAP42 is associated with hypertension. PMID:30903111
Meta-Analysis of Genomewide Association Studies Reveals Genetic Variants for Hip Bone Geometry. PMID:30888730
Genetic Association of Olanzapine Treatment Response in Han Chinese Schizophrenia Patients. PMID:30886581
An UNC5C Allele Predicts Cognitive Decline and Hippocampal Atrophy in Clinically Normal Older Adults. PMID:30883345
Clusterin in Alzheimer's Disease: Mechanisms, Genetics, and Lessons From Other Pathologies. PMID:30872998
Exploring Impact of Rare Variation in Systemic Lupus Erythematosus by a Genome Wide Imputation Approach. PMID:30863397
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects. PMID:30859180
Genetic overlap between birthweight and adult cardiometabolic diseases has implications for genomic medicine. PMID:30858448
Genetic variations in miR-125 family and the survival of non-small cell lung cancer in Chinese population. PMID:30843663
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. PMID:30820047
Increased Risk of Multiple Outpatient Surgeries in African-American Carriers of Transthyretin Val122Ile Mutation Is Modulated by Non-Coding Variants. PMID:30813263
Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes. PMID:30808881
Potential functional variants in SMC2 and TP53 in the AURORA pathway genes and risk of pancreatic cancer. PMID:30794721
A common SNP in the UNG gene decreases ovarian cancer risk in BRCA2 mutation carriers. PMID:30747491
A genome-wide association study identifies single nucleotide polymorphisms associated with time-to-metastasis in colorectal cancer. PMID:30738427
Disentangling the genetics of lean mass. PMID:30721968
Pandemrix-induced narcolepsy is associated with genes related to immunity and neuronal survival. PMID:30711515
Genetic regulatory mechanisms in human osteoclasts suggest a role for the STMP1 and DCSTAMP genes in Paget's disease of bone. PMID:30705363
Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. PMID:30698716
CLOCK Polymorphisms in Attention-Deficit/Hyperactivity Disorder (ADHD): Further Evidence Linking Sleep and Circadian Disturbances and ADHD. PMID:30696097
SNPs rs10224002 in PRKAG2 may disturb gene expression and consequently affect hypertension. PMID:30689184
A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia. PMID:30664655
Integrative genomic analysis predicts novel functional enhancer-SNPs for bone mineral density. PMID:30656451
ADGRL3 rs6551665 as a Common Vulnerability Factor Underlying Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder. PMID:30652248
Genetic variants in RUNX3, AMD1 and MSRA in the methionine metabolic pathway and survival in nonsmall cell lung cancer patients. PMID:30650190
Genetic Variants Associated With Neurodegenerative Diseases Regulate Gene Expression in Immune Cell CD14+ Monocytes. PMID:30619483
GRM7 polymorphisms and risk of schizophrenia in Iranian population. PMID:30610437
Exploring the underlying biology of intrinsic cardiorespiratory fitness through integrative analysis of genomic variants and muscle gene expression profiling. PMID:30605401
A Short Report on the Markov Property of DNA Sequences on 200-bp Genomic Units of Roadmap Genomics ChromHMM Annotations: A Computational Perspective. PMID:30602088
Parkinson's disease and Alzheimer's disease: a Mendelian randomization study. PMID:30598082
Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits. PMID:30595373
GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology. PMID:30583798
Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations. PMID:30572963
Functional Prediction of Chronic Kidney Disease Susceptibility Gene PRKAG2 by Comprehensively Bioinformatics Analysis. PMID:30559760
Replicated associations of FADS1, MAD1L1, and a rare variant at 10q26.13 with bipolar disorder in Chinese population. PMID:30531795
Molecular Relationships between Bronchial Asthma and Hypertension as Comorbid Diseases. PMID:30530896
Discovery of common and rare genetic risk variants for colorectal cancer. PMID:30510241
Heritability and Genome-Wide Association Study of Plasma Cholesterol in Chinese Adult Twins. PMID:30498476
Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis. PMID:30498034
Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. PMID:30487263
RT States: systematic annotation of the human genome using cell type-specific replication timing programs. PMID:30475980
The variant at TGFBRAP1 is significantly associated with type 2 diabetes mellitus and affects diabetes-related miRNA expression. PMID:30461200
OncoBase: a platform for decoding regulatory somatic mutations in human cancers. PMID:30445567
The genetic prehistory of the Andean highlands 7000 years BP though European contact. PMID:30417096
Analysis of FOXO3 Gene Polymorphisms Associated with Human Longevity. PMID:30414160
LPHN3 gene variations and susceptibility to ADHD in Chinese Han population: a two-stage case-control association study and gene-environment interactions. PMID:30406846
Genetic polymorphisms in CDH1 are associated with endometrial carcinoma susceptibility among Chinese Han women. PMID:30405831
Moderating effect of mode of delivery on the genetics of intelligence: Explorative genome-wide analyses in ALSPAC. PMID:30378284
Synergistic triad epistasis of epigenetic H3K27me modifier genes, EZH2, KDM6A, and KDM6B, in gastric cancer susceptibility. PMID:30374835
SEdb: a comprehensive human super-enhancer database. PMID:30371817
Variants at the APOE /C1/C2/C4 Locus Modulate Cholesterol Efflux Capacity Independently of High-Density Lipoprotein Cholesterol. PMID:30369316
Whole-Genome Linkage Scan Combined With Exome Sequencing Identifies Novel Candidate Genes for Carotid Intima-Media Thickness. PMID:30356672
Integrative genomic analysis for the functional roles of ITPKC in bone mineral density. PMID:30355649
Genetic Architecture of Adaptive Immune System Identifies Key Immune Regulators. PMID:30332657
BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts. PMID:30323354
Genome-Wide Association and Mechanistic Studies Indicate That Immune Response Contributes to Alzheimer's Disease Development. PMID:30319691
Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations. PMID:30317457
Genetic determinants of childhood and adult height associated with osteosarcoma risk. PMID:30311632
A Short Report on the Markov Property of DNA Sequences on 200-bp Genomic Units of ENCODE/Broad ChromHMM Annotations: A Computational Perspective. PMID:30309205
Genetic variations in TAS2R3 and TAS2R4 bitterness receptors modify papillary carcinoma risk and thyroid function in Korean females. PMID:30301923
Genome-wide association study identifies two risk loci for tuberculosis in Han Chinese. PMID:30287856
LINC00673 rs11655237 Polymorphism Is Associated With Increased Risk of Cervical Cancer in a Chinese Population. PMID:30286619
Colon-specific eQTL analysis to inform on functional SNPs. PMID:30283144
Alzheimer's Disease and Rheumatoid Arthritis: A Mendelian Randomization Study. PMID:30258348
Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume. PMID:30258056
Fine mapping of MHC region in lung cancer highlights independent susceptibility loci by ethnicity. PMID:30254314
Risk Locus Identification Ties Alcohol Withdrawal Symptoms to SORCS2. PMID:30252935
Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans. PMID:30248107
Genome-wide association analysis of common genetic variants of resistant hypertension. PMID:30237584
Identification of genes and pathways in esophageal adenocarcinoma using bioinformatics analysis. PMID:30233782
Genetic validation study of protein tyrosine phosphatase receptor type D (PTPRD) gene variants and risk for antipsychotic-induced weight gain. PMID:30229349
Bivariate genome-wide association analysis strengthens the role of bitter receptor clusters on chromosomes 7 and 12 in human bitter taste. PMID:30223776
Screening the full leucocyte receptor complex genomic region revealed associations with pemphigus that might be explained by gene regulation. PMID:30216441
Genome-wide association meta-analysis of coronary artery disease and periodontitis reveals a novel shared risk locus. PMID:30209331
Exploring predictive biomarkers from clinical genome-wide association studies via multidimensional hierarchical mixture models. PMID:30202041
Omega-3 Fatty Acids and Genome-Wide Interaction Analyses Reveal DPP10-Pulmonary Function Association. PMID:30199657
Genetic variants of cGMP-dependent protein kinase genes and salt sensitivity of blood pressure: the GenSalt study. PMID:30181659
Meta-Analysis of Genome-Wide Association Studies Identifies Novel Functional CpG-SNPs Associated with Bone Mineral Density at Lumbar Spine. PMID:30159320
In silico drug screening by using genome-wide association study data repurposed dabrafenib, an anti-melanoma drug, for Parkinson's disease. PMID:30137437
Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk. PMID:30127527
Genome-Wide Identification of N6-Methyladenosine (m6A) SNPs Associated With Rheumatoid Arthritis. PMID:30123242
Elucidating the Underlying Functional Mechanisms of Breast Cancer Susceptibility Through Post-GWAS Analyses. PMID:30116257
Chemotherapy-induced peripheral neuropathy: evidence from genome-wide association studies and replication within multiple myeloma patients. PMID:30111286
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
Fine-mapping analysis of a chromosome 2 region linked to resistance to Mycobacterium tuberculosis infection in Uganda reveals potential regulatory variants. PMID:30100616
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. PMID:30098192
Interleukin-1 Receptor Antagonist Is Associated With Pediatric Acute Respiratory Distress Syndrome and Worse Outcomes in Children With Acute Respiratory Failure. PMID:30095747
Evaluation of TDP-43 proteinopathy and hippocampal sclerosis in relation to APOE ε4 haplotype status: a community-based cohort study. PMID:30093249
Complement receptor 1 (CR1, CD35) association with susceptibility to leprosy. PMID:30092084
Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family. PMID:30072699
Genome-wide analysis of genetic determinants of circulating factor VII-activating protease (FSAP) activity. PMID:30070759
MicroRNA-214-3p in the Kidney Contributes to the Development of Hypertension. PMID:30049682
Implication of OPRM1 A118G Polymorphism in Opioids Addicts in Pakistan: In vitro and In silico Analysis. PMID:30033503
Biology and Clinical Implications of the 19q13 Aggressive Prostate Cancer Susceptibility Locus. PMID:30033361
Nuclear-Mitochondrial interactions influence susceptibility to HIV-associated neurocognitive impairment. PMID:30026132
High-throughput identification of noncoding functional SNPs via type IIS enzyme restriction. PMID:30013183
Functional characteristics of novel pancreatic Pax6 regulatory elements. PMID:30007277
Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy Implicates Pharmacokinetic and Inherited Neuropathy Genes. PMID:29999516
A vascular endothelial growth factor receptor gene variant is associated with susceptibility to acute respiratory distress syndrome. PMID:29987654
Genome-wide identification of m6A-associated SNPs as potential functional variants for bone mineral density. PMID:29980810
Genetic predisposition to B-cell acute lymphoblastic leukemia at 14q11.2 is mediated by a CEBPE promoter polymorphism. PMID:29977016
Detection of Significant Association Between Variants in Cannabinoid Receptor 1 Gene (CNR1) and Personality in African-American Population. PMID:29963071
Identification of an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk. PMID:29956121
High and Low Levels of an NTRK2-Driven Genetic Profile Affect Motor- and Cognition-Associated Frontal Gray Matter in Prodromal Huntington's Disease. PMID:29932126
Association of genetic variants in ATR-CHEK1 and ATM-CHEK2 pathway genes with risk of colorectal cancer in a Chinese population. PMID:29928473
CXCL12 chemokine and CXCR4 receptor: association with susceptibility and prognostic markers in triple negative breast cancer. PMID:29926386
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. PMID:29912962
Generalization and fine mapping of red blood cell trait genetic associations to multi-ethnic populations: The PAGE Study. PMID:29905378
Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations. PMID:29895819
Regulatory variants: from detection to predicting impact. PMID:29893792
Multi-ethnic genome-wide association study for atrial fibrillation. PMID:29892015
Genome-wide association studies suggest that APOL1-environment interactions more likely trigger kidney disease in African Americans with nondiabetic nephropathy than strong APOL1-second gene interactions. PMID:29885931
Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants. PMID:29884787
The correlation of copy number variations with longevity in a genome-wide association study of Han Chinese. PMID:29883365
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
A survey of microRNA single nucleotide polymorphisms identifies novel breast cancer susceptibility loci in a case-control, population-based study of African-American women. PMID:29871690
Genetic Modifiers of the Breast Tumor Microenvironment. PMID:29860987
Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs. PMID:29855537
LSCC SNP variant regulates SOX2 modulation of VDAC3. PMID:29854282
Disease-Specific Integration of Omics Data to Guide Functional Validation of Genetic Associations. PMID:29854229
Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden. PMID:29849176
Apolipoprotein E region molecular signatures of Alzheimer's disease. PMID:29797398
High-throughput screening of prostate cancer risk loci by single nucleotide polymorphisms sequencing. PMID:29789573
A locus at 7p14.3 predisposes to refractory celiac disease progression from celiac disease. PMID:29787419
Genome-wide haplotype association analysis of primary biliary cholangitis risk in Japanese. PMID:29773854
Genetic variant for behavioral regulation factor of executive function and its possible brain mechanism in attention deficit hyperactivity disorder. PMID:29769613
Identification of Novel Functional Variants of SIN3A and SRSF1 among Somatic Variants in Acute Myeloid Leukemia Patients. PMID:29764005
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. PMID:29760442
Detecting Differential Transcription Factor Activity from ATAC-Seq Data. PMID:29748466
Evaluation of WISP1 as a candidate gene for bone mineral density in the Old Order Amish. PMID:29739999
Transcriptomic context of DRD1 is associated with prefrontal activity and behavior during working memory. PMID:29735686
Mapping genetic variants for cranial vault shape in humans. PMID:29698431
Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies. PMID:29698419
Novel risk genes identified in a genome-wide association study for coronary artery disease in patients with type 1 diabetes. PMID:29695241
A common regulatory variant in SLC35B4 influences the recurrence and survival of prostate cancer. PMID:29682886
Common genetic variation and novel loci associated with volumetric mammographic density. PMID:29665850
Long Non-Coding RNAs in Vascular Inflammation. PMID:29662883
Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients From the PEAR Study (Pharmacogenomic Evaluation of Antihypertensive Responses). PMID:29650764
Type I Interferon Receptor Variants in Gene Regulatory Regions are Associated with Susceptibility to Cerebral Malaria in Malawi. PMID:29637882
Germline genetic variants in somatically significantly mutated genes in tumors are associated with renal cell carcinoma risk and outcome. PMID:29635281
Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia. PMID:29632299
Roles of NUCKS1 in Diseases: Susceptibility, Potential Biomarker, and Regulatory Mechanisms. PMID:29619377
PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger. PMID:29606303
Placenta and appetite genes GDF15 and IGFBP7 are associated with hyperemesis gravidarum. PMID:29563502
Heritability and Genome-Wide Association Analyses of Serum Uric Acid in Middle and Old-Aged Chinese Twins. PMID:29559957
Association of a single nucleotide polymorphism in TNIP1 with type-1 autoimmune hepatitis in the Japanese population. PMID:29559739
Association Study of VMAT1 Polymorphisms and Suicide Behavior. PMID:29536333
Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase. PMID:29526279
Genome Wide Association Study Identifies the HMGCS2 Locus to be Associated With Chlorthalidone Induced Glucose Increase in Hypertensive Patients. PMID:29523524
A large electronic-health-record-based genome-wide study of serum lipids. PMID:29507422
A Bayesian Framework for Generalized Linear Mixed Modeling Identifies New Candidate Loci for Late-Onset Alzheimer's Disease. PMID:29507048
Joint study of two genome-wide association meta-analyses identified 20p12.1 and 20q13.33 for bone mineral density. PMID:29499414
Methods for fine-mapping with chromatin and expression data. PMID:29481575
Associations of NADPH oxidase-related genes with blood pressure changes and incident hypertension: The GenSalt Study. PMID:29463833
Association of STAT6 gene variants with food allergy diagnosed by double-blind placebo-controlled food challenges. PMID:29457221
A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. PMID:29455858
Identifying noncoding risk variants using disease-relevant gene regulatory networks. PMID:29453388
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
Paternal lineage early onset hereditary ovarian cancers: A Familial Ovarian Cancer Registry study. PMID:29447163
A comprehensive review of the genetic and biological evidence supports a role for MicroRNA-137 in the etiology of schizophrenia. PMID:29442441
Functional Variants Identified Efficiently through an Integrated Transcriptome and Epigenome Analysis. PMID:29440655
CDKN2A/B T2D Genome-Wide Association Study Risk SNPs Impact Locus Gene Expression and Proliferation in Human Islets. PMID:29432124
Meta-analysis of three genome-wide association studies identifies two loci that predict survival and treatment outcome in breast cancer. PMID:29423119
Integrative analysis of super enhancer SNPs for type 2 diabetes. PMID:29385209
Genetic variation in the NEIL2 DNA glycosylase gene is associated with oxidative DNA damage in BRCA2 mutation carriers. PMID:29383107
Trans-ethnic analysis of metabochip data identifies two new loci associated with BMI. PMID:29381148
Vitamin D metabolic loci and preeclampsia risk in multi-ethnic pregnant women. PMID:29380949
GWAS of epigenetic aging rates in blood reveals a critical role for TERT. PMID:29374233
Genetic polymorphisms of GPR126 are functionally associated with PUMC classifications of adolescent idiopathic scoliosis in a Northern Han population. PMID:29363878
GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21. PMID:29348612
Genome-wide association study of self-reported food reactions in Japanese identifies shrimp and peach specific loci in the HLA-DR/DQ gene region. PMID:29348432
Changes in macrophage transcriptome associate with systemic sclerosis and mediate GSDMA contribution to disease risk. PMID:29348297
Molecular Basis for Dysregulated Activation of NKX2-5 in the Vascular Remodeling of Systemic Sclerosis. PMID:29342503
Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium. PMID:29339359
Regulation of Fn14 Receptor and NF-κB Underlies Inflammation in Meniere's Disease. PMID:29326686
Genome-wide association study of homocysteine in African Americans from the Jackson Heart Study, the Multi-Ethnic Study of Atherosclerosis, and the Coronary Artery Risk in Young Adults study. PMID:29321517
Beyond genome-wide significance: integrative approaches to the interpretation and extension of GWAS findings for alcohol use disorder. PMID:29316088
Pharmacogenetics of response to neoadjuvant paclitaxel treatment for locally advanced breast cancer. PMID:29290962
Immunogenetic factors in early immune control of human immunodeficiency virus type 1 (HIV-1) infection: Evaluation of HLA class I amino acid variants in two African populations. PMID:29289742
Principles and methods of in-silico prioritization of non-coding regulatory variants. PMID:29288389
Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. PMID:29274321
A functional variant in the OAS1 gene is associated with Sjögren's syndrome complicated with HBV infection. PMID:29242559
Identification and characterization of two functional variants in the human longevity gene FOXO3. PMID:29234056
Novel CYP2A6 diplotypes identified through next-generation sequencing are associated with in-vitro and in-vivo nicotine metabolism. PMID:29232328
Leveraging putative enhancer-promoter interactions to investigate two-way epistasis in Type 2 Diabetes GWAS. PMID:29218913
Genome-wide association study identifies the GLDC/IL33 locus associated with survival of osteosarcoma patients. PMID:29210060
Pharmacogenetic Analysis of the Model-Based Pharmacokinetics of Five Anti-HIV Drugs: How Does This Influence the Effect of Aging? PMID:29205871
Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment. PMID:29198719
An Unexpectedly Complex Architecture for Skin Pigmentation in Africans. PMID:29195075
Exposure to Night-Time Traffic Noise, Melatonin-Regulating Gene Variants and Change in Glycemia in Adults. PMID:29194408
Variation in CYP2A6 Activity and Personalized Medicine. PMID:29194389
Genetic variants in the inflammation pathway as predictors of recurrence and progression in non-muscle invasive bladder cancer treated with Bacillus Calmette-Guérin. PMID:29179475
Shared genetic etiology of hypertension and stroke: evidence from bioinformatics analysis of genome-wide association studies. PMID:29176593
Vitamin D metabolic loci and vitamin D status in Black and White pregnant women. PMID:29175129
Genetic variants in the platelet-derived growth factor subunit B gene associated with pancreatic cancer risk. PMID:29168174
Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data. PMID:29161273
Genome-wide association study of telomere length among South Asians identifies a second RTEL1 association signal. PMID:29151059
Identification of Pleiotropic Cancer Susceptibility Variants from Genome-Wide Association Studies Reveals Functional Characteristics. PMID:29150481
Matrix Metalloproteinases Polymorphisms as Prognostic Biomarkers in Malignant Pleural Mesothelioma. PMID:29138529
Significance of functional disease-causal/susceptible variants identified by whole-genome analyses for the understanding of human diseases. PMID:29129848
Eosinophilic esophagitis (EoE) genetic susceptibility is mediated by synergistic interactions between EoE-specific and general atopic disease loci. PMID:29129581
Association of a 3' untranslated region polymorphism in proprotein convertase subtilisin/kexin type 9 with HIV viral load and CD4+ levels in HIV/hepatitis C virus coinfected women. PMID:29120899
Chromatin-state discovery and genome annotation with ChromHMM. PMID:29120462
Genetic Variants Associated With Uncontrolled Blood Pressure on Thiazide Diuretic/β-Blocker Combination Therapy in the PEAR (Pharmacogenomic Evaluation of Antihypertensive Responses) and INVEST (International Verapamil-SR Trandolapril Study) Trials. PMID:29097388
Common, germline genetic variations in the novel tumor suppressor BAP1 and risk of developing different types of cancer. PMID:29088836
Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men. PMID:29077507
Novel genetic variants in the P38MAPK pathway gene ZAK and susceptibility to lung cancer. PMID:29071797
Sex influences eQTL effects of SLE and Sjögren's syndrome-associated genetic polymorphisms. PMID:29070082
Chromatin accessibility prediction via a hybrid deep convolutional neural network. PMID:29069282
Significance of CCL2, CCL5 and CCR2 polymorphisms for adverse prognosis of Japanese encephalitis from an endemic population of India. PMID:29057937
A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression. PMID:29056226
Genome-wide association study identifies the SERPINB gene cluster as a susceptibility locus for food allergy. PMID:29051540
Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease. PMID:29045054
GLRB variants regulate nearby gene expression in human brain tissues. PMID:29042589
New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals. PMID:29030403
Early-life environmental exposures interact with genetic susceptibility variants in pediatric patients with eosinophilic esophagitis. PMID:29029802
Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. PMID:28991256
Current Challenges and New Opportunities for Gene-Environment Interaction Studies of Complex Diseases. PMID:28978193
Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence. PMID:28972577
Predictive single nucleotide polymorphism markers for acute oral mucositis in patients with nasopharyngeal carcinoma treated with radiotherapy. PMID:28968968
Polymorphisms in genes related to epithelial-mesenchymal transition and risk of non-small cell lung cancer. PMID:28968839
Pleiotropy of genetic variants on obesity and smoking phenotypes: Results from the Oncoarray Project of The International Lung Cancer Consortium. PMID:28957450
Trans-ethnic predicted expression genome-wide association analysis identifies a gene for estrogen receptor-negative breast cancer. PMID:28957356
COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls. PMID:28954878
Fine Mapping and Functional Analysis Reveal a Role of SLC22A1 in Acylcarnitine Transport. PMID:28942964
The common variants implicated in microstructural abnormality of first episode and drug-naïve patients with schizophrenia. PMID:28924203
Association between polymorphisms of TAS2R16 and susceptibility to colorectal cancer. PMID:28915899
D-Dimer in African Americans: Whole Genome Sequence Analysis and Relationship to Cardiovascular Disease Risk in the Jackson Heart Study. PMID:28912365
A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors. PMID:28860667
Genome-wide association and functional studies identify a role for matrix Gla protein in osteoarthritis of the hand. PMID:28855172
Hypertension Susceptibility Loci are Associated with Anthracycline-related Cardiotoxicity in Long-term Childhood Cancer Survivors. PMID:28851949
A Pilot Genome-Wide Association Study in Postmenopausal Mexican-Mestizo Women Implicates the RMND1/CCDC170 Locus Is Associated with Bone Mineral Density. PMID:28840121
Association between taste receptor (TAS) genes and the perception of wine characteristics. PMID:28835712
Genomic correlates of glatiramer acetate adverse cardiovascular effects lead to a novel locus mediating coronary risk. PMID:28829817
Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility. PMID:28817678
Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1. PMID:28813576
Analytical Strategy to Prioritize Alzheimer's Disease Candidate Genes in Gene Regulatory Networks Using Public Expression Data. PMID:28800327
Increased Expression of Plasma-Induced ABCC1 mRNA in Cystic Fibrosis. PMID:28800122
Implicating candidate genes at GWAS signals by leveraging topologically associating domains. PMID:28792001
Long noncoding RNAs in cardiovascular disease, diagnosis, and therapy. PMID:28786864
UNC5C variants are associated with cerebral amyloid angiopathy. PMID:28761931
Genome-wide Association Study of Susceptibility to Particulate Matter-Associated QT Prolongation. PMID:28749367
Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus. PMID:28743860
Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families. PMID:28738860
An integrative genomics approach identifies novel pathways that influence candidaemia susceptibility. PMID:28727728
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass. PMID:28724990
FOXO3 longevity interactome on chromosome 6. PMID:28722347
Genome-Wide Association Meta-Analysis Reveals Novel Juvenile Idiopathic Arthritis Susceptibility Loci. PMID:28719732
Predictors of Hand-Foot Syndrome and Pyridoxine for Prevention of Capecitabine-Induced Hand-Foot Syndrome: A Randomized Clinical Trial. PMID:28715540
Association analyses based on false discovery rate implicate new loci for coronary artery disease. PMID:28714975
Transancestral mapping and genetic load in systemic lupus erythematosus. PMID:28714469
CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions. PMID:28712454
A case-control study on association of proteasome subunit beta 8 (PSMB8) and transporter associated with antigen processing 1 (TAP1) polymorphisms and their transcript levels in vitiligo from Gujarat. PMID:28700671
Genome-wide association studies of placebo and duloxetine response in major depressive disorder. PMID:28696415
Genetic variants of TRAF6 modulate peritoneal immunity and the risk of spontaneous bacterial peritonitis in cirrhosis: A combined prospective-retrospective study. PMID:28687809
Specific correlation between the major chromosome 10q26 haplotype conferring risk for age-related macular degeneration and the expression of HTRA1. PMID:28659708
A genetic stochastic process model for genome-wide joint analysis of biomarker dynamics and disease susceptibility with longitudinal data. PMID:28636232
Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis. PMID:28635949
A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling. PMID:28630421
A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease. PMID:28628103
Potential Susceptibility Loci Identified for Renal Cell Carcinoma by Targeting Obesity-Related Genes. PMID:28626070
Development of next generation sequencing panel for UMOD and association with kidney disease. PMID:28609449
Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. PMID:28604728
Sequence variant at 4q25 near PITX2 associates with appendicitis. PMID:28596592
KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment. PMID:28587604
Fast and general tests of genetic interaction for genome-wide association studies. PMID:28586362
Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants. PMID:28567521
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. PMID:28553957
Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2. PMID:28552356
GLANET: genomic loci annotation and enrichment tool. PMID:28541490
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve. PMID:28541271
Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms. PMID:28530674
Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population. PMID:28513607
Genetic variants in the genes encoding rho GTPases and related regulators predict cutaneous melanoma-specific survival. PMID:28510328
Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice. PMID:28506689
In silico pathway analysis and tissue specific cis-eQTL for colorectal cancer GWAS risk variants. PMID:28506205
Graph-based semi-supervised learning with genomic data integration using condition-responsive genes applied to phenotype classification. PMID:28505320
A Proposal for a Study on Treatment Selection and Lifestyle Recommendations in Chronic Inflammatory Diseases: A Danish Multidisciplinary Collaboration on Prognostic Factors and Personalised Medicine. PMID:28505128
Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation. PMID:28472463
Genetic polymorphisms associated with pancreatic cancer survival: a genome-wide association study. PMID:28470677
The PF4/PPBP/CXCL5 Gene Cluster Is Associated with Periodontitis. PMID:28467728
Functional Analysis of the Coronary Heart Disease Risk Locus on Chromosome 21q22. PMID:28458444
Identifying low density lipoprotein cholesterol associated variants in the Annexin A2 (ANXA2) gene. PMID:28456096
VEXOR: an integrative environment for prioritization of functional variants in fine-mapping analysis. PMID:28453673
Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. PMID:28453575
Common variants in ZMIZ1 and near NGF confer risk for primary dysmenorrhoea. PMID:28447608
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. PMID:28443625
Identification of genes associated with dissociation of cognitive performance and neuropathological burden: Multistep analysis of genetic, epigenetic, and transcriptional data. PMID:28441426
Ventral striatal regulation of CREM mediates impulsive action and drug addiction vulnerability. PMID:28439100
Rs4878104 contributes to Alzheimer's disease risk and regulates DAPK1 gene expression. PMID:28429084
A genome-wide association study identifies six novel risk loci for primary biliary cholangitis. PMID:28425483
Genetic variation of long non-coding RNA TINCR contribute to the susceptibility and progression of colorectal cancer. PMID:28418933
Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. PMID:28416818
Inherited variants in genes somatically mutated in thyroid cancer. PMID:28410400
Genetic variants of PTPN2 are associated with lung cancer risk: a re-analysis of eight GWASs in the TRICL-ILCCO consortium. PMID:28400551
Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci. PMID:28391526
Association between CACNA1C gene polymorphisms and ritodrine-induced adverse events in preterm labor patients. PMID:28391406
Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci. PMID:28374850
HIWI2 rs508485 Polymorphism Is Associated with Non-obstructive Azoospermia in Iranian Patients. PMID:28367472
A sequence-based method to predict the impact of regulatory variants using random forest. PMID:28361702
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
Functional variomics and network perturbation: connecting genotype to phenotype in cancer. PMID:28344341
Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? PMID:28334935
Genetic regulation of gene expression in the epileptic human hippocampus. PMID:28334860
GWAS identifies population-specific new regulatory variants in FUT6 associated with plasma B12 concentrations in Indians. PMID:28334792
Gene-based genome-wide association study identified 19p13.3 for lean body mass. PMID:28322352
Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis. PMID:28314753
Genome-wide analysis identifies an african-specific variant in SEMA4D associated with body mass index. PMID:28296344
Novel colon cancer susceptibility variants identified from a genome-wide association study in African Americans. PMID:28295283
Dynamic Role of trans Regulation of Gene Expression in Relation to Complex Traits. PMID:28285768
Pharmacogenetic Analysis of Functional Glutamate System Gene Variants and Clinical Response to Clozapine. PMID:28277565
SNP-SNP interactions between WNT4 and WNT5A were associated with obesity related traits in Han Chinese Population. PMID:28272483
SLC22A3 polymorphisms do not modify pancreatic cancer risk, but may influence overall patient survival. PMID:28272475
Genetic and regulatory mechanism of susceptibility to high-hyperdiploid acute lymphoblastic leukaemia at 10p21.2. PMID:28256501
Plasma Soluble Receptor for Advanced Glycation End Products in Idiopathic Pulmonary Fibrosis. PMID:28248552
Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. PMID:28247064
OSBPL10, RXRA and lipid metabolism confer African-ancestry protection against dengue haemorrhagic fever in admixed Cubans. PMID:28241052
BaalChIP: Bayesian analysis of allele-specific transcription factor binding in cancer genomes. PMID:28235418
The single nucleotide variant rs12722489 determines differential estrogen receptor binding and enhancer properties of an IL2RA intronic region. PMID:28234966
Genomic variants at 20p11 associated with body fat mass in the European population. PMID:28224759
Mouse Models of Human GWAS Hits for Obesity and Diabetes in the Post Genomic Era: Time for Reevaluation. PMID:28223964
A genome wide association study identifies a lncRna as risk factor for pathological inflammatory responses in leprosy. PMID:28222097
An adaptive variant of TRIB2, rs1057001, is associated with higher expression levels of thermogenic genes in human subcutaneous and visceral adipose tissues. PMID:28212671
Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease. PMID:28209224
GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. PMID:28199695
Ras-like without CAAX 2 (RIT2): a susceptibility gene for autism spectrum disorder. PMID:28190241
GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway. PMID:28187132
A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. PMID:28181694
Genome-wide association studies in women of African ancestry identified 3q26.21 as a novel susceptibility locus for oestrogen receptor negative breast cancer. PMID:28171663
Genetic Association and Risk Scores in a Chronic Obstructive Pulmonary Disease Meta-analysis of 16,707 Subjects. PMID:28170284
Integration of VDR genome wide binding and GWAS genetic variation data reveals co-occurrence of VDR and NF-κB binding that is linked to immune phenotypes. PMID:28166722
Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. PMID:28166215
Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility. PMID:28166214
Multiple functional SNPs in differentially expressed genes modify risk and survival of non-small cell lung cancer in Chinese female non-smokers. PMID:28148898
Admixture Mapping Identifies an Amerindian Ancestry Locus Associated with Albuminuria in Hispanics in the United States. PMID:28137830
MiR-137-derived polygenic risk: effects on cognitive performance in patients with schizophrenia and controls. PMID:28117840
Genome-Wide Prioritization and Transcriptomics Reveal Novel Signatures Associated With Thiazide Diuretics Blood Pressure Response. PMID:28115488
Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci. PMID:28112199
Confirmation of five novel susceptibility loci for systemic lupus erythematosus (SLE) and integrated network analysis of 82 SLE susceptibility loci. PMID:28108556
Autophagy-related gene LRRK2 is likely a susceptibility gene for systemic lupus erythematosus in northern Han Chinese. PMID:28099919
DNA Methylation Analysis of BRD1 Promoter Regions and the Schizophrenia rs138880 Risk Allele. PMID:28095495
The complex genetics of gait speed: genome-wide meta-analysis approach. PMID:28077804
Validation of microRNA pathway polymorphisms in esophageal adenocarcinoma survival. PMID:28074552
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. PMID:28073927
An endophenotype approach to the genetics of alcohol dependence: a genome wide association study of fast beta EEG in families of African ancestry. PMID:28070124
Novel Thrombotic Function of a Human SNP in STXBP5 Revealed by CRISPR/Cas9 Gene Editing in Mice. PMID:28062498
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. PMID:28054174
Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels. PMID:28053049
Body mass index change in gastrointestinal cancer and chronic obstructive pulmonary disease is associated with Dedicator of Cytokinesis 1. PMID:28044437
Molecular mechanisms underlying noncoding risk variations in psychiatric genetic studies. PMID:28044063
Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity. PMID:28039263
Genome-wide association study of immunoglobulin light chain amyloidosis in three patient cohorts: comparison with myeloma. PMID:28025584
Common germline variants within the CDKN2A/2B region affect risk of pancreatic neuroendocrine tumors. PMID:28008994
GARLIC: a bioinformatic toolkit for aetiologically connecting diseases and cell type-specific regulatory maps. PMID:28007912
Genetic variation at 16q24.2 is associated with small vessel stroke. PMID:27997041
Identification of the Functional Variant(s) that Explain the Low-Density Lipoprotein Receptor (LDLR) GWAS SNP rs6511720 Association with Lower LDL-C and Risk of CHD. PMID:27973560
Implication of NOTCH1 gene in susceptibility to anxiety and depression among sexual abuse victims. PMID:27959334
Large-scale pharmacogenomic study of sulfonylureas and the QT, JT and QRS intervals: CHARGE Pharmacogenomics Working Group. PMID:27958378
Mining the Unknown: Assigning Function to Noncoding Single Nucleotide Polymorphisms. PMID:27939749
Rare Variants in NOD1 Associated with Carotid Bifurcation Intima-Media Thickness in Dominican Republic Families. PMID:27936005
Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation. PMID:27918534
Prognostic Relevance of Methylenetetrahydrofolate Reductase Polymorphisms for Prostate Cancer. PMID:27916838
Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration. PMID:27911851
Genomic Characterization of Metformin Hepatic Response. PMID:27902686
Inherited Variants in Wnt Pathway Genes Influence Outcomes of Prostate Cancer Patients Receiving Androgen Deprivation Therapy. PMID:27898031
Prioritization of non-coding disease-causing variants and long non-coding RNAs in liver cancer. PMID:27895760
GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration. PMID:27892514
Synaptosome-Associated Protein 25 (SNAP25) Gene Association Analysis Revealed Risk Variants for ASD, in Iranian Population. PMID:27888397
Multiple myeloma risk variant at 7p15.3 creates an IRF4-binding site and interferes with CDCA7L expression. PMID:27882933
A polymorphism in human MR1 is associated with mRNA expression and susceptibility to tuberculosis. PMID:27881839
Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China. PMID:27876828
Identifying Causal Genes at the Multiple Sclerosis Associated Region 6q23 Using Capture Hi-C. PMID:27861577
17q21 asthma-risk variants switch CTCF binding and regulate IL-2 production by T cells. PMID:27848966
ABC transporter polymorphisms are associated with irinotecan pharmacokinetics and neutropenia. PMID:27845419
Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. PMID:27841878
Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance. PMID:27841877
Autoimmune risk variants in ERAP2 are associated with gene-expression levels in thymus. PMID:27829666
Deep targeted sequencing of 12 breast cancer susceptibility regions in 4611 women across four different ethnicities. PMID:27814745
snpGeneSets: An R Package for Genome-Wide Study Annotation. PMID:27807048
Genome-Wide and Gene-Based Meta-Analyses Identify Novel Loci Influencing Blood Pressure Response to Hydrochlorothiazide. PMID:27802415
Capture Hi-C identifies a novel causal gene, IL20RA, in the pan-autoimmune genetic susceptibility region 6q23. PMID:27799070
Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. PMID:27792995
Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. PMID:27790247
3DSNP: a database for linking human noncoding SNPs to their three-dimensional interacting genes. PMID:27789693
Genetic variants associated with risk of Alzheimer's disease contribute to cognitive change in midlife: The Atherosclerosis Risk in Communities Study. PMID:27781389
Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans. PMID:27770636
Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions. PMID:27766536
A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records. PMID:27764096
Interactome-transcriptome analysis discovers signatures complementary to GWAS Loci of Type 2 Diabetes. PMID:27752041
Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer. PMID:27749845
Genetic regulation of expression of leukotriene A4 hydrolase. PMID:27730172
Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis. PMID:27701424
A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1. PMID:27694927
Genome-wide associations for birth weight and correlations with adult disease. PMID:27680694
Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene. PMID:27677580
Genome-Wide Association Study of the Genetic Determinants of Emphysema Distribution. PMID:27669027
Functional genetic variant in the Kozak sequence of WW domain-containing oxidoreductase (WWOX) gene is associated with oral cancer risk. PMID:27655721
Dynamics and Correlates of CD8 T-Cell Counts in Africans with Primary Human Immunodeficiency Virus Type 1 Infection. PMID:27630231
Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells. PMID:27624058
Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. PMID:27618448
Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study. PMID:27616567
Identification of Four Novel Loci in Asthma in European American and African American Populations. PMID:27611488
Exploration and detection of potential regulatory variants in refractive error GWAS. PMID:27604318
Association of polymorphisms in genes of factors involved in regulation of splicing of cystic fibrosis transmembrane conductance regulator mRNA with acute respiratory distress syndrome in children with pneumonia. PMID:27596159
Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes. PMID:27588447
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA). PMID:27585267
Three new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21. PMID:27579533
Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans. PMID:27577874
Heritability and Genome-Wide Association Analyses of Sleep Duration in Children: The EAGLE Consortium. PMID:27568811
Non-additive genome-wide association scan reveals a new gene associated with habitual coffee consumption. PMID:27561104
A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways. PMID:27559109
ESR1 and PGR polymorphisms are associated with estrogen and progesterone receptor expression in breast tumors. PMID:27542969
Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. PMID:27539887
Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD. PMID:27532455
MiR-155 and its functional variant rs767649 contribute to the susceptibility and survival of hepatocellular carcinoma. PMID:27531892
Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis. PMID:27527254
Modulation of long noncoding RNAs by risk SNPs underlying genetic predispositions to prostate cancer. PMID:27526323
Identification and Potential Regulatory Properties of Evolutionary Conserved Regions (ECRs) at the Schizophrenia-Associated MIR137 Locus. PMID:27525637
Genetic Predisposition to Chronic Lymphocytic Leukemia Is Mediated by a BMF Super-Enhancer Polymorphism. PMID:27524613
Phenome-Wide Association Study to Explore Relationships between Immune System Related Genetic Loci and Complex Traits and Diseases. PMID:27508393
Pedigree based DNA sequencing pipeline for germline genomes of cancer families. PMID:27508007
Fine-mapping analysis revealed complex pleiotropic effect and tissue-specific regulatory mechanism of TNFSF15 in primary biliary cholangitis, Crohn's disease and leprosy. PMID:27507062
Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci. PMID:27494321
Literature-Informed Analysis of a Genome-Wide Association Study of Gestational Age in Norwegian Women and Children Suggests Involvement of Inflammatory Pathways. PMID:27490719
Single nucleotide polymorphisms in an intergenic chromosome 2q region associated with tissue factor pathway inhibitor plasma levels and venous thromboembolism. PMID:27490645
Functional single nucleotide polymorphisms within the cyclin-dependent kinase inhibitor 2A/2B region affect pancreatic cancer risk. PMID:27486979
Constrained Score Statistics Identify Genetic Variants Interacting with Multiple Risk Factors in Barrett's Esophagus. PMID:27486777
Identification of genetic variants predictive of early onset pancreatic cancer through a population science analysis of functional genomic datasets. PMID:27486767
Germline variation in inflammation-related pathways and risk of Barrett's oesophagus and oesophageal adenocarcinoma. PMID:27486097
Novel Genetic Variants Associated With Increased Vertebral Volumetric BMD, Reduced Vertebral Fracture Risk, and Increased Expression of SLC1A3 and EPHB2. PMID:27476799
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. PMID:27459855
Telomere structure and maintenance gene variants and risk of five cancer types. PMID:27459707
Synergistic association of STX1A and VAMP2 with cryptogenic epilepsy in North Indian population. PMID:27458546
Genome-wide association analysis of pain severity in dysmenorrhea identifies association at chromosome 1p13.2, near the nerve growth factor locus. PMID:27454463
Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis. PMID:27453397
Identification of Susceptible Loci and Enriched Pathways for Bipolar II Disorder Using Genome-Wide Association Studies. PMID:27450446
Identification of Susceptibility Genes of Adult Asthma in French Canadian Women. PMID:27445529
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. PMID:27432226
Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma. PMID:27424798
Genotype-Dependent Effects of Dalcetrapib on Cholesterol Efflux and Inflammation: Concordance With Clinical Outcomes. PMID:27418594
Identification and validation of regulatory SNPs that modulate transcription factor chromatin binding and gene expression in prostate cancer. PMID:27409348
Type 2 diabetes: genetic data sharing to advance complex disease research. PMID:27402621
Genome-wide association meta-analyses identified 1q43 and 2q32.2 for hip Ward's triangle areal bone mineral density. PMID:27397699
A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy. PMID:27386500
Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants. PMID:27379672
Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine. PMID:27374772
Genetic variants in regulatory regions of microRNAs are associated with lung cancer risk. PMID:27374108
Genome-wide association study identifies multiple susceptibility loci for multiple myeloma. PMID:27363682
Genome-wide studies of von Willebrand factor propeptide identify loci contributing to variation in propeptide levels and von Willebrand factor clearance. PMID:27359253
Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci. PMID:27354352
Functional annotation of noncoding variants and prioritization of cancer-associated lncRNAs in lung cancer. PMID:27347129
Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. PMID:27346689
Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits. PMID:27329260
GWAS analysis of handgrip and lower body strength in older adults in the CHARGE consortium. PMID:27325353
Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin. PMID:27321945
Association of 3q13.32 variants with hip trochanter and intertrochanter bone mineral density identified by a genome-wide association study. PMID:27311723
Haplotype and diplotype analyses of variation in ERCC5 transcription cis-regulation in normal bronchial epithelial cells. PMID:27235448
Prenatal Air Pollution Exposures, DNA Methyl Transferase Genotypes, and Associations with Newborn LINE1 and Alu Methylation and Childhood Blood Pressure and Carotid Intima-Media Thickness in the Children's Health Study. PMID:27219456
Molecular Characterization of the Lipid Genome-Wide Association Study Signal on Chromosome 18q11.2 Implicates HNF4A-Mediated Regulation of the TMEM241 Gene. PMID:27199446
Genetic and environmental risk factors for atherosclerosis regulate transcription of phosphatase and actin regulating gene PHACTR1. PMID:27187934
Identification of a functional variant for colorectal cancer risk mapping to chromosome 5q31.1. PMID:27177089
A Polymorphic Antioxidant Response Element Links NRF2/sMAF Binding to Enhanced MAPT Expression and Reduced Risk of Parkinsonian Disorders. PMID:27149848
Discovery of Genetic Variation on Chromosome 5q22 Associated with Mortality in Heart Failure. PMID:27149122
Novel genetic risk factors for asthma in African American children: Precision Medicine and the SAGE II Study. PMID:27142222
Integrative genomic deconvolution of rheumatoid arthritis GWAS loci into gene and cell type associations. PMID:27140173
Five endometrial cancer risk loci identified through genome-wide association analysis. PMID:27135401
Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility. PMID:27132594
Common SIRT1 variants modify the effect of abdominal adipose tissue on aging-related lung function decline. PMID:27125385
Separating the wheat from the chaff: systematic identification of functionally relevant noncoding variants in ADHD. PMID:27113999
Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies. PMID:27094239
Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. PMID:27089181
Physical and neurobehavioral determinants of reproductive onset and success. PMID:27089180
Circadian gene variants influence sleep and the sleep electroencephalogram in humans. PMID:27089043
Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer. PMID:27087578
Identification of ITPA on chromosome 20 as a susceptibility gene for young-onset tuberculosis. PMID:27081565
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. PMID:27064256
Enhancer-promoter interactions are encoded by complex genomic signatures on looping chromatin. PMID:27064255
A long noncoding RNA associated with susceptibility to celiac disease. PMID:27034373
Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. PMID:27020472
GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer. PMID:27008869
Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease. PMID:27005424
SMAD7 loci contribute to risk of hepatocellular carcinoma and clinicopathologic development among Chinese Han population. PMID:26989026
Sports genetics: the PPARA gene and athletes' high ability in endurance sports. A systematic review and meta-analysis. PMID:26985127
Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans. PMID:26977737
HiView: an integrative genome browser to leverage Hi-C results for the interpretation of GWAS variants. PMID:26969411
Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene. PMID:26968009
Germline genetics of cancer of unknown primary (CUP) and its specific subtypes. PMID:26959888
Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. PMID:26956414
Genome-wide association analysis identifies novel loci for chronotype in 100,420 individuals from the UK Biobank. PMID:26955885
Genetic contribution of CYP1A1 variant on treatment outcome in epilepsy patients: a functional and interethnic perspective. PMID:26951882
Melatonin Pathway and Atenolol-Related Glucose Dysregulation: Is There a Correlation? PMID:26946962
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. PMID:26928228
Prospective study of γ' fibrinogen and incident venous thromboembolism: The Longitudinal Investigation of Thromboembolism Etiology (LITE). PMID:26916295
Programmed Cell Death Genes Are Linked to Elevated Creatine Kinase Levels in Unhealthy Male Nonagenarians. PMID:26913518
Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density. PMID:26911590
Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies. PMID:26910538
Genetic variants in ultraconserved regions associate with prostate cancer recurrence and survival. PMID:26902966
Association between Genetic Variants in DNA Double-Strand Break Repair Pathways and Risk of Radiation Therapy-Induced Pneumonitis and Esophagitis in Non-Small Cell Lung Cancer. PMID:26901225
Which Genetics Variants in DNase-Seq Footprints Are More Likely to Alter Binding? PMID:26901046
Early developmental gene enhancers affect subcortical volumes in the adult human brain. PMID:26890892
BDNF rs6265 methylation and genotype interact on risk for schizophrenia. PMID:26889735
A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology. PMID:26868379
Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia. PMID:26853712
A Common Variant in CLDN14 is Associated with Primary Biliary Cirrhosis and Bone Mineral Density. PMID:26842849
GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person. PMID:26835600
HLA class II sequence variants influence tuberculosis risk in populations of European ancestry. PMID:26829749
Genetic Variation in the Vesicular Monoamine Transporter: Preliminary Associations With Cognitive Outcomes After Severe Traumatic Brain Injury. PMID:26828714
Germline Genetic Variants in the Wnt/β-Catenin Pathway as Predictors of Colorectal Cancer Risk. PMID:26809274
High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry. PMID:26808113
Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans. PMID:26805783
Post-GWAS methodologies for localisation of functional non-coding variants: ANGPTL3. PMID:26800306
Common genetic variants and subclinical atherosclerosis: The Multi-Ethnic Study of Atherosclerosis (MESA). PMID:26789557
Evaluation of genetic association of neurodevelopment and neuroimmunological genes with antipsychotic treatment response in schizophrenia in Indian populations. PMID:26788534
MHC class II super-enhancer increases surface expression of HLA-DR and HLA-DQ and affects cytokine production in autoimmune vitiligo. PMID:26787888
Role of non-coding sequence variants in cancer. PMID:26781813
PHENOME-WIDE INTERACTION STUDY (PheWIS) IN AIDS CLINICAL TRIALS GROUP DATA (ACTG). PMID:26776173
Reducing GWAS Complexity. PMID:26771711
Circulating Metabolites and Survival Among Patients With Pancreatic Cancer. PMID:26755275
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. PMID:26752265
Alzheimer's Disease Variants with the Genome-Wide Significance are Significantly Enriched in Immune Pathways and Active in Immune Cells. PMID:26746668
Genome-wide meta-analyses identify novel loci associated with n-3 and n-6 polyunsaturated fatty acid levels in Chinese and European-ancestry populations. PMID:26744325
Genome-wide association study identifies variation at 6q25.1 associated with survival in multiple myeloma. PMID:26743840
Common variation in atrial fibrillation: navigating the path from genetic association to mechanism. PMID:26733238
Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures. PMID:26733130
Meta-analysis of genome-wide association studies identifies multiple lung cancer susceptibility loci in never-smoking Asian women. PMID:26732429
Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry. PMID:26732427
Pharmacogenomic Genome-Wide Meta-Analysis of Blood Pressure Response to β-Blockers in Hypertensive African Americans. PMID:26729753
Differential gene expression levels might explain association of LAIR2 polymorphisms with pemphigus. PMID:26721477
Making sense of GWAS: using epigenomics and genome engineering to understand the functional relevance of SNPs in non-coding regions of the human genome. PMID:26719772
Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer. PMID:26719535
Limited Evidence for Association of Genome-Wide Schizophrenia Risk Variants on Cortical Neuroimaging Phenotypes. PMID:26712857
Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study. PMID:26708676
NRSF and BDNF polymorphisms as biomarkers of cognitive dysfunction in adults with newly diagnosed epilepsy. PMID:26708060
Identification of new susceptibility loci for gastric non-cardia adenocarcinoma: pooled results from two Chinese genome-wide association studies. PMID:26701879
Bioinformatics Mining and Modeling Methods for the Identification of Disease Mechanisms in Neurodegenerative Disorders. PMID:26690135
Evolutionary context for the association of γ-globin, serum uric acid, and hypertension in African Americans. PMID:26686224
Genetic factors influencing the risk of multiple myeloma bone disease. PMID:26669972
Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans. PMID:26663301
HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease. PMID:26657631
High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences. PMID:26651848
Evaluation of potential regulatory function of breast cancer risk locus at 6q25.1. PMID:26645718
Discovery of a novel genetic susceptibility locus on X chromosome for systemic lupus erythematosus. PMID:26635088
Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture. PMID:26626624
Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium. PMID:26621531
GWASdb v2: an update database for human genetic variants identified by genome-wide association studies. PMID:26615194
Genetic risk factors for the development of osteonecrosis in children under age 10 treated for acute lymphoblastic leukemia. PMID:26590194
LocusExplorer: a user-friendly tool for integrated visualization of human genetic association data and biological annotations. PMID:26589274
Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population. PMID:26566276
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. PMID:26561523
Genetic Determinants of Pelvic Organ Prolapse among African American and Hispanic Women in the Women's Health Initiative. PMID:26545240
A functional variant in miR-155 regulation region contributes to lung cancer risk and survival. PMID:26543233
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
Disproportionate Contributions of Select Genomic Compartments and Cell Types to Genetic Risk for Coronary Artery Disease. PMID:26509271
Gene copy number variation analysis reveals dosage-insensitive expression of CYP2E1. PMID:26503817
Identification of four new susceptibility loci for testicular germ cell tumour. PMID:26503584
rVarBase: an updated database for regulatory features of human variants. PMID:26503253
GERV: a statistical method for generative evaluation of regulatory variants for transcription factor binding. PMID:26476779
Common variants in DRD2 are associated with sleep duration: the CARe consortium. PMID:26464489
Genome-wide association study of body mass index in subjects with alcohol dependence. PMID:26458734
Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer. PMID:26443449
A functional polymorphism in the CEBPE gene promoter influences acute lymphoblastic leukemia risk through interaction with the hematopoietic transcription factor Ikaros. PMID:26437776
Siaα2-3Galβ1- Receptor Genetic Variants Are Associated with Influenza A(H1N1)pdm09 Severity. PMID:26436774
A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome. PMID:26433934
Genomic approaches for understanding the genetics of complex disease. PMID:26430153
A GWAS SNP for Schizophrenia Is Linked to the Internal MIR137 Promoter and Supports Differential Allele-Specific Expression. PMID:26429811
Genome-wide association study identifies multiple susceptibility loci for glioma. PMID:26424050
Tissue-Specific Enrichment of Lymphoma Risk Loci in Regulatory Elements. PMID:26422229
JBASE: Joint Bayesian Analysis of Subphenotypes and Epistasis. PMID:26411870
Molecular mechanisms underlying variations in lung function: a systems genetics analysis. PMID:26404118
Variants in the CYP7B1 gene region do not affect natural resistance to HIV-1 infection. PMID:26399852
Genetic associations with viral respiratory illnesses and asthma control in children. PMID:26399222
Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk. PMID:26399219
Genome-wide association study identifies new susceptibility loci for adolescent idiopathic scoliosis in Chinese girls. PMID:26394188
Antisocial behavior and polymorphisms in the oxytocin receptor gene: findings in two independent samples. PMID:26390829
Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. PMID:26390057
Identification of a Potential Regulatory Variant for Colorectal Cancer Risk Mapping to Chromosome 5q31.1: A Post-GWAS Study. PMID:26381143
An in silico Approach Reveals Associations between Genetic and Epigenetic Factors within Regulatory Elements in B Cells from Primary Sjögren's Syndrome Patients. PMID:26379672
Integrated multiomics approach identifies calcium and integrin-binding protein-2 as a novel gene for pulse wave velocity. PMID:26378684
A newly identified susceptibility locus near FOXP1 modifies the association of gastroesophageal reflux with Barrett's esophagus. PMID:26377193
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
Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk. PMID:26354892
The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity. PMID:26332131
Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer. PMID:26330482
A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease. PMID:26327206
SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival. PMID:26317411
Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization. PMID:26296642
Prediction of Causal Candidate Genes in Coronary Artery Disease Loci. PMID:26293461
CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations. PMID:26292654
A comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density. PMID:26275715
motifbreakR: an R/Bioconductor package for predicting variant effects at transcription factor binding sites. PMID:26272984
Prospective study of circulating factor XI and incident venous thromboembolism: The Longitudinal Investigation of Thromboembolism Etiology (LITE). PMID:26260105
Genetic Variation and Insulin Resistance in Middle-Aged Chinese Men. PMID:26252243
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. PMID:26237428
A multiancestry study identifies novel genetic associations with CHRNA5 methylation in human brain and risk of nicotine dependence. PMID:26220977
Layered genetic control of DNA methylation and gene expression: a locus of multiple sclerosis in healthy individuals. PMID:26220975
Long-Range Modulation of PAG1 Expression by 8q21 Allergy Risk Variants. PMID:26211970
Genome-wide Gene-Asbestos Exposure Interaction Association Study Identifies a Common Susceptibility Variant on 22q13.31 Associated with Lung Cancer Risk. PMID:26199339
Connecting SNPs in Diabetes: A Spatial Analysis of Meta-GWAS Loci. PMID:26191039
A Pooled Genome-Wide Association Study of Asperger Syndrome. PMID:26176695
Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels. PMID:26174136
A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough. PMID:26169577
Integration of multiethnic fine-mapping and genomic annotation to prioritize candidate functional SNPs at prostate cancer susceptibility regions. PMID:26162851
Genetic Determinants of Metabolism and Benign Prostate Enlargement: Associations with Prostate Volume. PMID:26158673
Disentangling the Effects of Colocalizing Genomic Annotations to Functionally Prioritize Non-coding Variants within Complex-Trait Loci. PMID:26140449
Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation. PMID:26132169
Ethnic variation of TET2 SNP rs2454206 and association with clinical outcome in childhood AML: a report from the Children's Oncology Group. PMID:26126966
GWAS reveal novel IgA nephropathy risk loci. PMID:26119152
Expression quantitative trait locus analysis for translational medicine. PMID:26110023
Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. PMID:26098869
Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk. PMID:26092349
A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma. PMID:26084801
Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci. PMID:26083657
Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy. PMID:26077951
Common variants of NFE2L2 gene predisposes to acute respiratory distress syndrome in patients with severe sepsis. PMID:26077880
Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression. PMID:26073781
CTNNA3 and SEMA3D: Promising loci for asthma exacerbation identified through multiple genome-wide association studies. PMID:26073756
Genetic risk variants associated with in situ breast cancer. PMID:26070784
Regulation of cholesteryl ester transfer protein expression by upstream polymorphisms: reduced expression associated with rs247616. PMID:26061659
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
Genetic Differences in the Immediate Transcriptome Response to Stress Predict Risk-Related Brain Function and Psychiatric Disorders. PMID:26050039
Identification of two novel mammographic density loci at 6Q25.1. PMID:26036842
A Genome-Wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes. PMID:26030696
Identification of new susceptibility loci for IgA nephropathy in Han Chinese. PMID:26028593
APOL1 G1 genotype modifies the association between HDLC and kidney function in African Americans. PMID:26025194
A statistical framework to predict functional non-coding regions in the human genome through integrated analysis of annotation data. PMID:26015273
Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes. PMID:26014426
Association Study between the CD157/BST1 Gene and Autism Spectrum Disorders in a Japanese Population. PMID:26010484
Genetic Variant rs10757278 on Chromosome 9p21 Contributes to Myocardial Infarction Susceptibility. PMID:26006241
Trans-ethnic meta-analysis identifies common and rare variants associated with hepatocyte growth factor levels in the Multi-Ethnic Study of Atherosclerosis (MESA). PMID:25998175
Association of the Lipoprotein Receptor SCARB1 Common Missense Variant rs4238001 with Incident Coronary Heart Disease. PMID:25993026
A candidate gene study reveals association between a variant of the Peroxisome Proliferator-Activated Receptor Gamma (PPAR-γ) gene and systemic sclerosis. PMID:25986483
Associations of common variants in the BST2 region with HIV-1 acquisition in African American and European American people who inject drugs. PMID:25985399
Genetics of diabetic nephropathy: a long road of discovery. PMID:25971618
Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese. PMID:25967671
Analyzing the Association of Polymorphisms in the CRYBB2 Gene with Prostate Cancer Risk in African Americans. PMID:25964531
Polymorphism at 19q13.41 Predicts Breast Cancer Survival Specifically after Endocrine Therapy. PMID:25964295
Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. PMID:25954001
Independent evidence for an association between general cognitive ability and a genetic locus for educational attainment. PMID:25951819
A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing. PMID:25941534
Two susceptibility loci identified for prostate cancer aggressiveness. PMID:25939597
Genetic architectures of seropositive and seronegative rheumatic diseases. PMID:25907699
PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies. PMID:25904937
Admixture mapping of coronary artery calcification in African Americans from the NHLBI family heart study. PMID:25902833
Integrated pathway and epistasis analysis reveals interactive effect of genetic variants at TERF1 and AFAP1L2 loci on melanoma risk. PMID:25892537
GREGOR: evaluating global enrichment of trait-associated variants in epigenomic features using a systematic, data-driven approach. PMID:25886982
Host genetic variation influences gene expression response to rhinovirus infection. PMID:25874939
New basal cell carcinoma susceptibility loci. PMID:25855136
Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms. PMID:25849990
Myocardial Infarction-Associated SNP at 6p24 Interferes With MEF2 Binding and Associates With PHACTR1 Expression Levels in Human Coronary Arteries. PMID:25838425
Lipid-induced epigenomic changes in human macrophages identify a coronary artery disease-associated variant that regulates PPAP2B Expression through Altered C/EBP-beta binding. PMID:25835000
The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients. PMID:25823661
Re-annotation of presumed noncoding disease/trait-associated genetic variants by integrative analyses. PMID:25819875
Identification of a Novel Mucin Gene HCG22 Associated With Steroid-Induced Ocular Hypertension. PMID:25813999
Mechanisms in the relation between GABRA2 and adolescent externalizing problems. PMID:25804982
Deciphering associations for lung cancer risk through imputation and analysis of 12,316 cases and 16,831 controls. PMID:25804397
Genome-wide identification of microRNA expression quantitative trait loci. PMID:25791433
Novel genetic locus implicated for HIV-1 acquisition with putative regulatory links to HIV replication and infectivity: a genome-wide association study. PMID:25786224
In-silico analysis of inflammatory bowel disease (IBD) GWAS loci to novel connections. PMID:25786114
Multilevel-analysis identify a cis-expression quantitative trait locus associated with risk of renal cell carcinoma. PMID:25784652
A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females. PMID:25784220
Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism. PMID:25772935
Genome-wide epistatic expression quantitative trait loci discovery in four human tissues reveals the importance of local chromosomal interactions governing gene expression. PMID:25765234
Using the ENCODE Resource for Functional Annotation of Genetic Variants. PMID:25762420
Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking. PMID:25758996
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. PMID:25751624
Genetic variant rs17225178 in the ARNT2 gene is associated with Asperger Syndrome. PMID:25745553
Cis-Expression Quantitative Trait Loci Mapping Reveals Replicable Associations with Heroin Addiction in OPRM1. PMID:25744370
Whole-genome sequence-based analysis of thyroid function. PMID:25743335
Are there genetic paths common to obesity, cardiovascular disease outcomes, and cardiovascular risk factors? PMID:25722444
Rare variant association studies: considerations, challenges and opportunities. PMID:25709717
Genetic variants in the Hippo pathway predict biochemical recurrence after radical prostatectomy for localized prostate cancer. PMID:25707771
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. PMID:25706626
Conserved epigenomic signals in mice and humans reveal immune basis of Alzheimer's disease. PMID:25693568
Integrative analysis of 111 reference human epigenomes. PMID:25693563
Genetic interaction analysis of TCF7L2 for biochemical recurrence after radical prostatectomy in localized prostate cancer. PMID:25678841
Rare variants at 16p11.2 are associated with common variable immunodeficiency. PMID:25678086
The genetic basis of quality of life in healthy Swedish women: a candidate gene approach. PMID:25675377
In silico functional pathway annotation of 86 established prostate cancer risk variants. PMID:25658610
Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease. PMID:25653287
Genotypic and allelic variability in CYP19A1 among populations of African and European ancestry. PMID:25647083
Genetic variants modulating CRIPTO serum levels identified by genome-wide association study in Cilento isolates. PMID:25629528
New loci and coding variants confer risk for age-related macular degeneration in East Asians. PMID:25629512
Dietary fatty acids modulate associations between genetic variants and circulating fatty acids in plasma and erythrocyte membranes: Meta-analysis of nine studies in the CHARGE consortium. PMID:25626431
DCAF4, a novel gene associated with leucocyte telomere length. PMID:25624462
ST13 polymorphisms and their effect on exacerbations in steroid-treated asthmatic children and young adults. PMID:25616159
Association of breast cancer risk loci with breast cancer survival. PMID:25611573
Methods of integrating data to uncover genotype-phenotype interactions. PMID:25582081
The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population. PMID:25569187
A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study. PMID:25552651
In-silico QTL mapping of postpubertal mammary ductal development in the mouse uncovers potential human breast cancer risk loci. PMID:25552398
Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study. PMID:25542012
Genomic architecture of pharmacological efficacy and adverse events. PMID:25521360
Identifying causal regulatory SNPs in ChIP-seq enhancers. PMID:25520196
Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos. PMID:25488688
Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. PMID:25487306
Genome-wide meta-analyses of plasma renin activity and concentration reveal association with the kininogen 1 and prekallikrein genes. PMID:25477429
Computational approaches to interpreting genomic sequence variation. PMID:25473426
Enhancer variants: evaluating functions in common disease. PMID:25473424
Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus. PMID:25447851
A common variant in RAB27A gene is associated with fractional exhaled nitric oxide levels in adults. PMID:25431337
Intronic variants in the NFKB1 gene may influence hearing forecast in patients with unilateral sensorineural hearing loss in Meniere's disease. PMID:25397881
Expression analysis in intestinal mucosa reveals complex relations among genes under the association peaks in celiac disease. PMID:25388004
Associating disease-related genetic variants in intergenic regions to the genes they impact. PMID:25374782
VaDE: a manually curated database of reproducible associations between various traits and human genomic polymorphisms. PMID:25361969
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. PMID:25350695
Albuminoid genes: evolving at the interface of dispensability and selection. PMID:25349266
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. PMID:25342443
SNPsnap: a Web-based tool for identification and annotation of matched SNPs. PMID:25316677
Common genetic variants in NEFL influence gene expression and neuroblastoma risk. PMID:25312269
VAS: a convenient web portal for efficient integration of genomic features with millions of genetic variants. PMID:25306238
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens. PMID:25305756
OncoCis: annotation of cis-regulatory mutations in cancer. PMID:25298093
Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing. PMID:25288881
Functional annotation of putative regulatory elements at cancer susceptibility Loci. PMID:25288875
A novel common variant in DCST2 is associated with length in early life and height in adulthood. PMID:25281659
Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region. PMID:25279986
Multi-species, multi-transcription factor binding highlights conserved control of tissue-specific biological pathways. PMID:25279814
FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer. PMID:25273974
Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome. PMID:25264479
Enlight: web-based integration of GWAS results with biological annotations. PMID:25262152
Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma. PMID:25261932
Associations between oxytocin receptor genotypes and social cognitive performance in individuals with schizophrenia. PMID:25244972
Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors. PMID:25227710
Common variation near ROBO2 is associated with expressive vocabulary in infancy. PMID:25226531
Immunochip SNP array identifies novel genetic variants conferring susceptibility to candidaemia. PMID:25197941
Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. PMID:25192044
Association of IRGM gene mutations with inflammatory bowel disease in the Indian population. PMID:25191865
A regulatory polymorphism in HAVCR2 modulates susceptibility to HIV-1 infection. PMID:25180498
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. PMID:25173105
Genetic variation modifies risk for neurodegeneration based on biomarker status. PMID:25140149
Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. PMID:25129146
Unbiased analysis of potential targets of breast cancer susceptibility loci by Capture Hi-C. PMID:25122612
Variants associated with type 2 diabetes identified by the transethnic meta-analysis study: assessment in American Indians and evidence for a new signal in LPP. PMID:25112377
Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes. PMID:25102180
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. PMID:25086665
Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels. PMID:25080503
Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1. PMID:25038754
Annotation of functional variation within non-MHC MS susceptibility loci through bioinformatics analysis. PMID:25030428
Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33. PMID:25027329
Genetic variations of PIP4K2A confer vulnerability to poor antipsychotic response in severely ill schizophrenia patients. PMID:25025909
Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns. PMID:25006744
An integrative analysis of meningioma tumors reveals the determinant genes and pathways of malignant transformation. PMID:25003081
Epigenomic analysis of primary human T cells reveals enhancers associated with TH2 memory cell differentiation and asthma susceptibility. PMID:24997565
Strategies to fine-map genetic associations with lipid levels by combining epigenomic annotations and liver-specific transcription profiles. PMID:24997396
Systematic fine-mapping of association with BMI and type 2 diabetes at the FTO locus by integrating results from multiple ethnic groups. PMID:24978468
Host genetics and viral load in primary HIV-1 infection: clear evidence for gene by sex interactions. PMID:24969460
The ontology of genetic susceptibility factors (OGSF) and its application in modeling genetic susceptibility to vaccine adverse events. PMID:24963371
Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. PMID:24962325
Sequencing of 2 subclinical atherosclerosis candidate regions in 3669 individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. PMID:24951662
Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. PMID:24951660
Pathway-based analysis of GWAs data identifies association of sex determination genes with susceptibility to testicular germ cell tumors. PMID:24943593
Aberrant methylation of the MSH3 promoter and distal enhancer in esophageal cancer patients exposed to first-hand tobacco smoke. PMID:24934723
On the identification of potential regulatory variants within genome wide association candidate SNP sets. PMID:24920305
Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk. PMID:24908248
Genetic factors affecting gene transcription and catalytic activity of UDP-glucuronosyltransferases in human liver. PMID:24879639
A Bayesian method to incorporate hundreds of functional characteristics with association evidence to improve variant prioritization. PMID:24844982
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. PMID:24836286
Common genetic variants associated with resting oxygenation in chronic obstructive pulmonary disease. PMID:24825563
Abundant local interactions in the 4p16.1 region suggest functional mechanisms underlying SLC2A9 associations with human serum uric acid. PMID:24821702
Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort. PMID:24784026
A comprehensive resequence-analysis of 250 kb region of 8q24.21 in men of African ancestry. PMID:24783269
Determining causality and consequence of expression quantitative trait loci. PMID:24770875
Cognitive mediators and disparities in the relation between teen depressiveness and smoking. PMID:24768409
Large-scale evaluation of common variation in regulatory T cell-related genes and ovarian cancer outcome. PMID:24764580
Defining functional DNA elements in the human genome. PMID:24753594
Shared and independent colorectal cancer risk alleles in TGFβ-related genes in African and European Americans. PMID:24753543
Variation in NF-κB signaling pathways and survival in invasive epithelial ovarian cancer. PMID:24740199
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. PMID:24737748
Lessons and Implications from Genome-Wide Association Studies (GWAS) Findings of Blood Cell Phenotypes. PMID:24705286
Evaluation of SLE Susceptibility Genes in Malaysians. PMID:24696779
Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age. PMID:24688116
Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome. PMID:24679184
An atlas of active enhancers across human cell types and tissues. PMID:24670763
Genome-wide interaction study of smoking and bladder cancer risk. PMID:24662972
Laying a solid foundation for Manhattan--'setting the functional basis for the post-GWAS era'. PMID:24661571
Genetic modification of the relationship between phosphorylated tau and neurodegeneration. PMID:24656848
Dissecting the causal genetic mechanisms of coronary heart disease. PMID:24623178
Common genetic variants modulate pathogen-sensing responses in human dendritic cells. PMID:24604203
Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans. PMID:24603370
Genetic variation in genes encoding airway epithelial potassium channels is associated with chronic rhinosinusitis in a pediatric population. PMID:24595210
Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. PMID:24560520
STX1A and Asperger syndrome: a replication study. PMID:24548729
Inherited variation in the PARP1 gene and survival from melanoma. PMID:24535833
High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. PMID:24532676
Redundant enhancers and causal variants in the TCF7L2 gene. PMID:24518834
High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms. PMID:24497844
Unifying immunology with informatics and multiscale biology. PMID:24448569
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. PMID:24403052
Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. PMID:24376456
A review of post-GWAS prioritization approaches. PMID:24367376
Rapid and pervasive changes in genome-wide enhancer usage during mammalian development. PMID:24360275
Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations. PMID:24345515
Systematic discovery and characterization of regulatory motifs in ENCODE TF binding experiments. PMID:24335146
Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant. PMID:24334606
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. PMID:24325915
Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism. PMID:24321478
Fine mapping of variants associated with endometriosis in the WNT4 region on chromosome 1p36. PMID:24319535
Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants. PMID:24315451
Systems genetics approaches to understand complex traits. PMID:24296534
Breast cancer susceptibility risk associations and heterogeneity by E-cadherin tumor tissue expression. PMID:24292867
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. PMID:24292274
Pathways systematically associated to Hirschsprung's disease. PMID:24289864
Using chromatin marks to interpret and localize genetic associations to complex human traits and diseases. PMID:24287333
Genome-wide protein QTL mapping identifies human plasma kallikrein as a post-translational regulator of serum uPAR levels. PMID:24249636
Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions. PMID:24248812
A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations. PMID:24241537
ChIP-seq in steatohepatitis and normal liver tissue identifies candidate disease mechanisms related to progression to cancer. PMID:24206787
A hypothesis-driven association study of 28 nuclear-encoded mitochondrial genes with antipsychotic-induced weight gain in schizophrenia. PMID:24196945
A genome-wide association study of prostate cancer in West African men. PMID:24185611
Conditional testing of multiple variants associated with bone mineral density in the FLNB gene region suggests that they represent a single association signal. PMID:24176111
Genome-wide association study identifies multiple loci associated with bladder cancer risk. PMID:24163127
Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. PMID:24149102
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. PMID:24144296
Lessons from postgenome-wide association studies: functional analysis of cancer predisposition loci. PMID:24127939
Interactions between GSK3β and amyloid genes explain variance in amyloid burden. PMID:24112793
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. PMID:24105470
Defining the contribution of SNPs identified in asthma GWAS to clinical variables in asthmatic children. PMID:24066901
Assessing the validity of asthma associations for eight candidate genes and age at diagnosis effects. PMID:24039878
Systematic identification of trans eQTLs as putative drivers of known disease associations. PMID:24013639
Illuminating microRNA Transcription from the Epigenome. PMID:23997652
A genome-wide association study of chronic otitis media with effusion and recurrent otitis media identifies a novel susceptibility locus on chromosome 2. PMID:23974705
Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. PMID:23972371
ARLTS1 and prostate cancer risk--analysis of expression and regulation. PMID:23940804
Two variants of the C-reactive protein gene are associated with risk of pre-eclampsia in an American Indian population. PMID:23940726
Functional promoter variants in sphingosine 1-phosphate receptor 3 associate with susceptibility to sepsis-associated acute respiratory distress syndrome. PMID:23911438
HTR4 gene structure and altered expression in the developing lung. PMID:23890215
Mapping of PARK2 and PACRG overlapping regulatory region reveals LD structure and functional variants in association with leprosy in unrelated indian population groups. PMID:23861666
Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders. PMID:23856854
Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size. PMID:23825393
THEMIS and PTPRK in celiac intestinal mucosa: coexpression in disease and after in vitro gliadin challenge. PMID:23820479
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. PMID:23817569
CXCR5 polymorphisms in non-Hodgkin lymphoma risk and prognosis. PMID:23812490
Moderation of antipsychotic-induced weight gain by energy balance gene variants in the RUPP autism network risperidone studies. PMID:23799528
An association study of TOLL and CARD with leprosy susceptibility in Chinese population. PMID:23784377
ChroMoS: an integrated web tool for SNP classification, prioritization and functional interpretation. PMID:23782616
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. PMID:23770605
PGMRA: a web server for (phenotype x genotype) many-to-many relation analysis in GWAS. PMID:23761451
Detection and impact of rare regulatory variants in human disease. PMID:23755067
A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. PMID:23743675
The sex-specific associations of the aromatase gene with Alzheimer's disease and its interaction with IL10 in the Epistasis Project. PMID:23736221
GWAS3D: Detecting human regulatory variants by integrative analysis of genome-wide associations, chromosome interactions and histone modifications. PMID:23723249
Comprehensive functional annotation of seventy-one breast cancer risk Loci. PMID:23717510
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. PMID:23666240
Meta-analysis identifies four new loci associated with testicular germ cell tumor. PMID:23666239
Novel loci associated with increased risk of sudden cardiac death in the context of coronary artery disease. PMID:23593153
Genome-wide association study and gene expression analysis identifies CD84 as a predictor of response to etanercept therapy in rheumatoid arthritis. PMID:23555300
Comprehensive genetic analysis of cytarabine sensitivity in a cell-based model identifies polymorphisms associated with outcome in AML patients. PMID:23538338
Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression. PMID:23535824
Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23. PMID:23462292
New insights from existing sequence data: generating breakthroughs without a pipette. PMID:23438857
Characterization of the Metabochip in diverse populations from the International HapMap Project in the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) project. PMID:23424124
Association of AMP-activated protein kinase with risk and progression of non-Hodgkin lymphoma. PMID:23396962
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. PMID:23396134
Predicting cell types and genetic variations contributing to disease by combining GWAS and epigenetic data. PMID:23382893
Human disease-associated genetic variation impacts large intergenic non-coding RNA expression. PMID:23341781
Association of the AIRE gene with susceptibility to rheumatoid arthritis in a European population: a case control study. PMID:23320549
Chromatin marks identify critical cell types for fine mapping complex trait variants. PMID:23263488
Integrating GWAS and expression data for functional characterization of disease-associated SNPs: an application to follicular lymphoma. PMID:23246294
Trans-population analysis of genetic mechanisms of ethnic disparities in neuroblastoma survival. PMID:23243203
Interpreting noncoding genetic variation in complex traits and human disease. PMID:23138309
Annotation of functional variation in personal genomes using RegulomeDB. PMID:22955989
Toward mapping the biology of the genome. PMID:22955973
What does our genome encode? PMID:22955972
Human genomic disease variants: a neutral evolutionary explanation. PMID:22665443
Finding genes and variants for lipid levels after genome-wide association analysis. PMID:22418572
HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease PubMed citations: 392.

392 articles citing: HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease

Multivariate genome-wide association study of depression, cognition, and memory phenotypes and validation analysis identify 12 cross-ethnic variants. PMID:35907915
Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells. PMID:35896530
Cumulative Evidence for Relationships Between Multiple Variants in the TERT and CLPTM1L Region and Risk of Cancer and Non-Cancer Disease. PMID:35847915
The use of genomic variants to drive drug repurposing for chronic hepatitis B. PMID:35832745
MMP2 Polymorphisms and Colorectal Cancer Susceptibility in a Chinese Han Population. PMID:35818579
Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome. PMID:35743717
mGWAS-Explorer: Linking SNPs, Genes, Metabolites, and Diseases for Functional Insights. PMID:35736459
Investigating the genetic architecture of eye colour in a Canadian cohort. PMID:35712076
Pleiotropic MLLT10 variation confers risk of meningioma and estrogen-mediated cancers. PMID:35702670
Impact of schizophrenia GWAS loci converge onto distinct pathways in cortical interneurons vs glutamatergic neurons during development. PMID:35701597
Evaluating a Causal Relationship between Complement Factor I Protein Level and Advanced Age-Related Macular Degeneration Using Mendelian Randomization. PMID:35693873
Single nucleotide polymorphisms in FOXP1 and RORA of the lymphocyte activation-related pathway affect survival of lung cancer patients. PMID:35693292
Antagonistic regulatory effects of a single cis-acting expression quantitative trait locus between transcription and translation of the MRPL43 gene. PMID:35659240
Associations of genetic risk, BMI trajectories, and the risk of non-small cell lung cancer: a population-based cohort study. PMID:35658861
Novel MicroRNA-Regulated Transcript Networks Are Associated with Chemotherapy Response in Ovarian Cancer. PMID:35563265
Association between circulating vitamin E and ten common cancers: evidence from large-scale Mendelian randomization analysis and a longitudinal cohort study. PMID:35538486
TNFRSF13B is a potential contributor to prostate cancer. PMID:35524261
TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data. PMID:35504290
Prevalence of uncoupling protein one genetic polymorphisms and their relationship with cardiovascular and metabolic health. PMID:35482655
Association of Long Non-Coding RNAs (lncRNAs) ANRIL and MALAT1 Polymorphism with Cervical Cancer. PMID:35480403
Autoimmune Disease Associated CLEC16A Variants Convey Risk of Parkinson's Disease in Han Chinese. PMID:35432448
Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium. PMID:35399580
A whole genome sequencing study of moderate to severe asthma identifies a lung function locus associated with asthma risk. PMID:35368043
MEF2C gene variations are associated with ADHD in the Chinese Han population: a case-control study. PMID:35357565
Multi-Omics Characterization of Early- and Adult-Onset Major Depressive Disorder. PMID:35330412
Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations. PMID:35285134
Genetic Factors of Renin-Angiotensin System Associated with Major Bleeding for Patients Treated with Direct Oral Anticoagulants. PMID:35213964
STAT3-mediated allelic imbalance of novel genetic variant Rs1047643 and B-cell-specific super-enhancer in association with systemic lupus erythematosus. PMID:35188103
The Antarctic Weddell seal genome reveals evidence of selection on cardiovascular phenotype and lipid handling. PMID:35177770
Identification of potential functional variants and genes at 18q21.1 associated with the carcinogenesis of colorectal cancer. PMID:35108261
Functional Deletion/Insertion Promoter Variants in SCARB1 Associated With Increased Susceptibility to Lipid Profile Abnormalities and Coronary Heart Disease. PMID:35097019
Polympact: exploring functional relations among common human genetic variants. PMID:35061909
Identification of Druggable Genes for Asthma by Integrated Genomic Network Analysis. PMID:35052792
Adolescent Verbal Memory as a Psychosis Endophenotype: A Genome-Wide Association Study in an Ancestrally Diverse Sample. PMID:35052446
Genome-wide association study identifies genetic risk loci for adiposity in a Taiwanese population. PMID:35051171
Genetic Analysis Reveals the Prognostic Significance of the DNA Mismatch Repair Gene MSH2 in Advanced Prostate Cancer. PMID:35008387
SARS-CoV-2-Encoded MiRNAs Inhibit Host Type I Interferon Pathway and Mediate Allelic Differential Expression of Susceptible Gene. PMID:35003084
Fine-Mapping of the Major Histocompatibility Complex Region Linked to Leprosy in Northern China. PMID:34976012
Examination of Genetic Variants Revealed from a Rat Model of Brain Ischemia in Patients with Ischemic Stroke: A Pilot Study. PMID:34946887
Genome-wide association and functional interrogation identified a variant at 3p26.1 modulating ovarian cancer survival among Chinese women. PMID:34930913
Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk. PMID:34926279
Autophagy ATG16L1 rs2241880 impacts the colorectal cancer risk: A case-control study. PMID:34894411
Filaggrin gene polymorphisms are associated with atopic dermatitis in women but not in men in the Caucasian population of Central Russia. PMID:34882715
piRBase: integrating piRNA annotation in all aspects. PMID:34871445
Integrative Analysis of LGR5/6 Gene Variants, Gut Microbiota Composition and Osteoporosis Risk in Elderly Population. PMID:34795657
Genetic architecture of orbital telorism. PMID:34791242
The contribution of the LOC105371267 and MRPS30-DT genetic polymorphisms to IgA nephropathy in the Chinese Han population. PMID:34786099
Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4. PMID:34785669
Exploring the Epigenetic Regulatory Role of m6A-Associated SNPs in Type 2 Diabetes Pathogenesis. PMID:34737607
Genetic Variants of CLEC4E and BIRC3 in Damage-Associated Molecular Patterns-Related Pathway Genes Predict Non-Small Cell Lung Cancer Survival. PMID:34692492
From GWAS to Gene: Transcriptome-Wide Association Studies and Other Methods to Functionally Understand GWAS Discoveries. PMID:34659337
Prioritization of regulatory variants with tissue-specific function in the non-coding regions of human genome. PMID:34648033
Genetic Polymorphisms of IFNG, IFNGR1, and Androgen Receptor and Chronic Prostatitis/Chronic Pelvic Pain Syndrome in a Chinese Han Population. PMID:34646402
RGD v2.0: a major update of the ruminant functional and evolutionary genomics database. PMID:34643708
Association of TLR 9 gene polymorphisms with remission in patients with rheumatoid arthritis receiving TNF-α inhibitors and development of machine learning models. PMID:34635730
Genetic Variants of CLPP and M1AP Are Associated With Risk of Non-Small Cell Lung Cancer. PMID:34604049
VannoPortal: multiscale functional annotation of human genetic variants for interrogating molecular mechanism of traits and diseases. PMID:34570217
TCF7L2 lncRNA: a link between bipolar disorder and body mass index through glucocorticoid signaling. PMID:34535768
Genome-wide functional screen of 3'UTR variants uncovers causal variants for human disease and evolution. PMID:34534445
An association study in the Taiwan Biobank elicits the GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for sleep duration in the Taiwanese population. PMID:34530807
Association of Genetic Variants Affecting microRNAs and Pancreatic Cancer Risk. PMID:34527018
Genetic variations of DNA bindings of FOXA1 and co-factors in breast cancer susceptibility. PMID:34518541
Prioritization and functional analysis of GWAS risk loci for Barrett's esophagus and esophageal adenocarcinoma. PMID:34505128
Association of the functionally significant polymorphisms of the MMP9 gene with H. pylori-positive gastric ulcer in the Caucasian population of Central Russia. PMID:34492072
Addiction-Associated Genetic Variants Implicate Brain Cell Type- and Region-Specific Cis-Regulatory Elements in Addiction Neurobiology. PMID:34462306
Seeing the forest through the trees: prioritising potentially functional interactions from Hi-C. PMID:34454581
Gene Polymorphisms of the Renin-Angiotensin System and Bleeding Complications of Warfarin: Genetic-Based Machine Learning Models. PMID:34451921
Identification of ROBO2 as a Potential Locus Associated with Inhaled Corticosteroid Response in Childhood Asthma. PMID:34442380
Transcriptional Regulation of RUNX1: An Informatics Analysis. PMID:34440349
A genome-wide association study of quantitative computed tomographic emphysema in Korean populations. PMID:34404834
rs10514231 Leads to Breast Cancer Predisposition by Altering ATP6AP1L Gene Expression. PMID:34359652
A Genome-Wide Association Study of Age-Related Hearing Impairment in Middle- and Old-Aged Chinese Twins. PMID:34337005
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms. PMID:34315874
Genetic Variants Associated With Intraparenchymal Hemorrhage Progression After Traumatic Brain Injury. PMID:34309670
An association study in the Taiwan Biobank elicits three novel candidates for cognitive aging in old adults: NCAM1, TTC12 and ZBTB20. PMID:34285142
ARHGEF26 enhances Salmonella invasion and inflammation in cells and mice. PMID:34242364
Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women. PMID:34234117
Genetic determinants of multiple myeloma risk within the Wnt/beta-catenin signaling pathway. PMID:34216957
Prediction of Probable Major Depressive Disorder in the Taiwan Biobank: An Integrated Machine Learning and Genome-Wide Analysis Approach. PMID:34202750
Machine Learning Approaches for Predicting Bisphosphonate-Related Osteonecrosis in Women with Osteoporosis Using VEGFA Gene Polymorphisms. PMID:34200782
Functionally significant polymorphisms of the MMP-9 gene are associated with peptic ulcer disease in the Caucasian population of Central Russia. PMID:34188075
Genome-wide association study of body fat distribution traits in Hispanics/Latinos from the HCHS/SOL. PMID:34165540
Integrative genomic analysis of N6-methyladenosine-single nucleotide polymorphisms (m6A-SNPs) associated with breast cancer. PMID:34151731
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes. PMID:34127860
Variants in BANK1 are associated with lupus nephritis of European ancestry. PMID:34127828
TSLP disease-associated genetic variants combined with airway TSLP expression influence asthma risk. PMID:34111451
Genetic variants of DOCK2, EPHB1 and VAV2 in the natural killer cell-related pathway are associated with non-small cell lung cancer survival. PMID:34094683
Genetic Predisposition to the Mortality in Septic Shock Patients: From GWAS to the Identification of a Regulatory Variant Modulating the Activity of a CISH Enhancer. PMID:34072601
NRG1 Genetic Variant Influences the Efficacy of Androgen-Deprivation Therapy in Men with Prostate Cancer. PMID:34068503
Genetic variants of CHEK1, PRIM2 and CDK6 in the mitotic phase-related pathway are associated with nonsmall cell lung cancer survival. PMID:34058013
Genetic evaluation of the variants using MassARRAY in non-small cell lung cancer among North Indians. PMID:34050209
Novel Alzheimer's disease risk variants identified based on whole-genome sequencing of APOE ε4 carriers. PMID:34011927
Genetic Association Study Revealed Three Loci Were Associated Risk of Myopia Among Minors. PMID:34007202
Association of Myopia and Genetic Variants of TGFB2-AS1 and TGFBR1 in the TGF-β Signaling Pathway: A Longitudinal Study in Chinese School-Aged Children. PMID:33996791
miR-1184 regulates inflammatory responses and cell apoptosis by targeting TRADD in an LPS-induced cell model of sepsis. PMID:33936286
Impact of cytotoxic T-lymphocyte-associated protein 4 codon 17 variant and expression on vitiligo risk. PMID:33932254
Functional Genomic Analyses of the 21q22.3 Locus Identifying Functional Variants and Candidate Gene YBEY for Breast Cancer Risk. PMID:33922500
PTBP1 Genetic Variants Affect the Clinical Response to Androgen-deprivation Therapy in Patients With Prostate Cancer. PMID:33893085
Beyond association: successes and challenges in linking non-coding genetic variation to functional consequences that modulate Alzheimer's disease risk. PMID:33882988
Association analysis of miRNA-related genetic polymorphisms in miR-143/145 and KRAS with colorectal cancer susceptibility and survival. PMID:33825830
Assessing the Associations of Growth Differentiation Factor 15 with Rheumatic Diseases Using Genetic Data. PMID:33790654
Genetic factors influencing a neurobiological substrate for psychiatric disorders. PMID:33782385
Identification of New miRNA-mRNA Networks in the Development of Non-syndromic Cleft Lip With or Without Cleft Palate. PMID:33732700
Genome-wide association studies of exacerbations in children using long-acting beta2-agonists. PMID:33706416
Polymorphisms of the matrix metalloproteinase genes are associated with essential hypertension in a Caucasian population of Central Russia. PMID:33664351
Molecular signatures of selection on the human GLI3 associated central nervous system specific enhancers. PMID:33655411
Ethnic and trans-ethnic genome-wide association studies identify new loci influencing Japanese Alzheimer's disease risk. PMID:33654092
Potentially functional variants of ERAP1, PSMF1 and NCF2 in the MHC-I-related pathway predict non-small cell lung cancer survival. PMID:33651148
Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer's disease. PMID:33637690
Association of MicroRNA Biogenesis Genes Polymorphisms with Risk of Large Artery Atherosclerosis Stroke. PMID:33620673
Genetics of Polycystic Ovary Syndrome: What is New? PMID:33518187
Multi-omics analysis to identify susceptibility genes for colorectal cancer. PMID:33481017
Identification of genetic variants in m6A modification genes associated with pancreatic cancer risk in the Chinese population. PMID:33474615
Fine-mapping of the non-coding variation driving the Caucasian LRRK2 GWAS signal in Parkinson's disease. PMID:33454605
Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis. PMID:33421400
Enhancer polymorphisms at the IKZF1 susceptibility locus for acute lymphoblastic leukemia impact B-cell proliferation and differentiation in both Down syndrome and non-Down syndrome genetic backgrounds. PMID:33411777
Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment. PMID:33383876
Genome-wide prioritization reveals novel gene signatures associated with cardiotoxic effects of tyrosine kinase inhibitors. PMID:33376527
Leveraging phenotypic variability to identify genetic interactions in human phenotypes. PMID:33326753
Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants. PMID:33311554
Genome-wide association study of asthma exacerbations despite inhaled corticosteroid use. PMID:33303529
Polymorphisms in TYMS for Prediction of Capecitabine-Induced Hand-Foot Syndrome in Chinese Patients with Colorectal Cancer. PMID:33285053
SNP-SNP Interaction in Genes Encoding PD-1/PD-L1 Axis as a Potential Risk Factor for Clear Cell Renal Cell Carcinoma. PMID:33255938
Circulating insulin-like growth factor-I, total and free testosterone concentrations and prostate cancer risk in 200 000 men in UK Biobank. PMID:33252839
Qtlizer: comprehensive QTL annotation of GWAS results. PMID:33235230
Associations between genetic variants of KIF5B, FMN1, and MGAT3 in the cadherin pathway and pancreatic cancer risk. PMID:33200553
Trans-Ancestral Fine-Mapping and Epigenetic Annotation as Tools to Delineate Functionally Relevant Risk Alleles at IKZF1 and IKZF3 in Systemic Lupus Erythematosus. PMID:33182226
Association of Alzheimer's disease risk variants on the PICALM gene with PICALM expression, core biomarkers, and feature neurodegeneration. PMID:33170153
Impact of Genetic Ancestry on Prognostic Biomarkers in Uveal Melanoma. PMID:33142712
Genetic Analysis Identifies the Role of HLF in Renal Cell Carcinoma. PMID:33099483
VARAdb: a comprehensive variation annotation database for human. PMID:33095866
Association of Uncommon, Noncoding Variants in the APOE Region With Risk of Alzheimer Disease in Adults of European Ancestry. PMID:33090224
The FAM171A2 gene is a key regulator of progranulin expression and modifies the risk of multiple neurodegenerative diseases. PMID:33087363
An in silico approach to identify and prioritize miRNAs target sites polymorphisms in colorectal cancer and obesity. PMID:33073494
Integrated genomics analysis highlights important SNPs and genes implicated in moderate-to-severe asthma based on GWAS and eQTL datasets. PMID:33066754
The association between circulating 25-hydroxyvitamin D metabolites and type 2 diabetes in European populations: A meta-analysis and Mendelian randomisation analysis. PMID:33064751
Dysregulation of vitamin D synthesis pathway genes in colorectal cancer: A case-control study. PMID:33058307
Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene. PMID:33055079
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
Analysis of Trans-Ancestral SLE Risk Loci Identifies Unique Biologic Networks and Drug Targets in African and European Ancestries. PMID:33031749
Pleiotropic genomic variants at 17q21.31 associated with bone mineral density and body fat mass: a bivariate genome-wide association analysis. PMID:32963334
The Genetic Makeup of the Electrocardiogram. PMID:32916098
Novel genetic variants of SYK and ITGA1 related lymphangiogenesis signaling pathway predict non-small cell lung cancer survival. PMID:32905494
Annotation of susceptibility SNPs associated with atrial fibrillation. PMID:32902410
Cytokines mapping for tissue-specific expression, eQTLs and GWAS traits. PMID:32895400
RAR-related orphan receptor A: One gene with multiple functions related to migraine. PMID:32892507
eQTL Colocalization Analyses Identify NTN4 as a Candidate Breast Cancer Risk Gene. PMID:32871102
Genome-wide association study reveals a novel locus for asthma with severe exacerbations in diverse populations. PMID:32841424
Atlas of Transcription Factor Binding Sites from ENCODE DNase Hypersensitivity Data across 27 Tissue Types. PMID:32814038
Associations of novel variants in PIK3C3, INSR and MAP3K4 of the ATM pathway genes with pancreatic cancer risk. PMID:32775006
Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population. PMID:32771030
Integrative Genomic Analysis Predicts Regulatory Role of N 6-Methyladenosine-Associated SNPs for Adiposity. PMID:32733881
Functional Genetic Polymorphisms in the IL1RL1-IL18R1 Region Confer Risk for Ocular Behçet's Disease in a Chinese Han Population. PMID:32719716
Bayesian modelling of high-throughput sequencing assays with malacoda. PMID:32692749
A pooled genome-wide association study identifies pancreatic cancer susceptibility loci on chromosome 19p12 and 19p13.3 in the full-Jewish population. PMID:32671597
Novel genetic variants of KIR3DL2 and PVR involved in immunoregulatory interactions are associated with non-small cell lung cancer survival. PMID:32642289
A sequential methodology for the rapid identification and characterization of breast cancer-associated functional SNPs. PMID:32620845
The Association Between Foxp3 Polymorphisms and Risk of Graves' Disease: A Systematic Review and Meta-Analysis of Observational Studies. PMID:32612577
Intronic Variants in OCT1 are Associated with All-Cause and Cardiovascular Mortality in Metformin Users with Type 2 Diabetes. PMID:32606866
Genetic variants associated with alcohol dependence co-ordinate regulation of ADH genes in gastrointestinal and adipose tissues. PMID:32555468
ERCC2 gene single-nucleotide polymorphism as a prognostic factor for locally advanced head and neck carcinomas after definitive cisplatin-based radiochemotherapy. PMID:32546699
Novel Variants of ELP2 and PIAS1 in the Interferon Gamma Signaling Pathway Are Associated with Non-Small Cell Lung Cancer Survival. PMID:32493705
Genetic Analysis Reveals a Significant Contribution of CES1 to Prostate Cancer Progression in Taiwanese Men. PMID:32466188
Genomic resources for dissecting the role of non-protein coding variation in gene-environment interactions. PMID:32450112
Serotonin re-uptake transporter gene polymorphisms are associated with imatinib-induced diarrhoea in chronic myeloid leukaemia patients. PMID:32439979
Trans-ethnic meta-analysis of genome-wide association studies identifies maternal ITPR1 as a novel locus influencing fetal growth during sensitive periods in pregnancy. PMID:32407400
Circulating Protein Signatures and Causal Candidates for Type 2 Diabetes. PMID:32385057
The effect of interleukin 10 polymorphisms on breast cancer susceptibility in Han women in Shaanxi Province. PMID:32380517
The sperm epigenome does not display recurrent epimutations in patients with severely impaired spermatogenesis. PMID:32375885
Demographic and genetic factors influence the abundance of infiltrating immune cells in human tissues. PMID:32371927
Phenotypic and functional translation of IL1RL1 locus polymorphisms in lung tissue and asthmatic airway epithelium. PMID:32324168
Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate. PMID:32318854
Telomere Maintenance Genes are associated with Type 2 Diabetes Susceptibility in Northwest Indian Population Group. PMID:32296102
Integrative genomics analysis of eQTL and GWAS summary data identifies PPP1CB as a novel bone mineral density risk genes. PMID:32266926
Comprehensive functional annotation of susceptibility variants associated with asthma. PMID:32240371
APOB Genotypes and CDH13 Haplotypes in the Cholesterol-Related Pathway Genes Predict Non-Small Cell Lung Cancer Survival. PMID:32238407
Genetic polymorphisms of IL17A associated with Chagas disease: results from a meta-analysis in Latin American populations. PMID:32193469
Dysregulated Antibody, Natural Killer Cell and Immune Mediator Profiles in Autoimmune Thyroid Diseases. PMID:32182948
Genome-Wide Association Study of Ocular Sarcoidosis Confirms HLA Associations and Implicates Barrier Function and Autoimmunity in African Americans. PMID:32141793
Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants. PMID:32139696
Association between the APOA2 rs3813627 Single Nucleotide Polymorphism and HDL and APOA1 Levels Through BMI. PMID:32120838
Functional effects of variation in transcription factor binding highlight long-range gene regulation by epromoters. PMID:32112106
Genetic Association Analysis of Cell Cycle Regulators Reveals YWHAZ Has Prognostic Significance in Prostate Cancer. PMID:32108043
Machine learning on genome-wide association studies to predict the risk of radiation-associated contralateral breast cancer in the WECARE Study. PMID:32106268
Genetic association analysis identifies a role for ANO5 in prostate cancer progression. PMID:32027096
Decreased Immunoglobulin G Core Fucosylation, A Player in Antibody-dependent Cell-mediated Cytotoxicity, is Associated with Autoimmune Thyroid Diseases. PMID:32024769
Novel Genetic Variants of ALG6 and GALNTL4 of the Glycosylation Pathway Predict Cutaneous Melanoma-Specific Survival. PMID:31991610
Common variants in the COL2A1 gene are associated with lattice degeneration of the retina in a Japanese population. PMID:31908402
Comparative and Functional Genomic Resource for Mechanistic Studies of Human Blood Pressure-Associated Single Nucleotide Polymorphisms. PMID:31902252
RSAT variation-tools: An accessible and flexible framework to predict the impact of regulatory variants on transcription factor binding. PMID:31871587
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21. PMID:31848685
MicroRNA-181a-5p Regulates Inflammatory Response of Macrophages in Sepsis. PMID:31844680
Identification of Novel Loci and New Risk Variant in Known Loci for Colorectal Cancer Risk in East Asians. PMID:31826910
PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate. PMID:31825181
Genetics of cognitive trajectory in Brazilians: 15 years of follow-up from the Bambuí-Epigen Cohort Study of Aging. PMID:31792241
The functional roles of IGF-1 variants in the susceptibility and clinical outcomes of mild traumatic brain injury. PMID:31787098
Prognostic Value of CD1B in Localised Prostate Cancer. PMID:31783478
Effects of Polymorphisms in Myc-Related Genes on Bleeding Complications in Patients with Stable Warfarin Responses. PMID:31772606
Association of IL18 genetic polymorphisms with Chagas disease in Latin American populations. PMID:31751351
Functional association between NUCKS1 gene and Parkinson disease: A potential susceptibility biomarker. PMID:31719764
CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies. PMID:31691819
Genome-Wide Association Analysis of Longitudinal Bone Mineral Content Data From the Iowa Bone Development Study. PMID:31668963
Genetic analysis of hsCRP in American Indians: The Strong Heart Family Study. PMID:31622379
Novel genetic variants in KIF16B and NEDD4L in the endosome-related genes are associated with nonsmall cell lung cancer survival. PMID:31618441
QTLbase: an integrative resource for quantitative trait loci across multiple human molecular phenotypes. PMID:31598699
Immunochip meta-analysis in European and Argentinian populations identifies two novel genetic loci associated with celiac disease. PMID:31591516
Association between genetic polymorphisms of NRF2, KEAP1, MAFF, MAFK and anti-tuberculosis drug-induced liver injury: a nested case-control study. PMID:31586142
Exploring genetic variation that influences brain methylation in attention-deficit/hyperactivity disorder. PMID:31582733
Integrating Genome-Wide Association Studies With Pathway Analysis and Gene Expression Analysis Highlights Novel Osteoarthritis Risk Pathways and Genes. PMID:31572443
Multiple functional variants in the IL1RL1 region are pretransplant markers for risk of GVHD and infection deaths. PMID:31455667
Target Genes of Autism Risk Loci in Brain Frontal Cortex. PMID:31447881
Genetic variants in glutamine metabolic pathway genes predict cutaneous melanoma-specific survival. PMID:31435991
Genome-Wide Meta-Analysis of Blood Pressure Response to β1-Blockers: Results From ICAPS (International Consortium of Antihypertensive Pharmacogenomics Studies). PMID:31423876
Identifying Putative Susceptibility Genes and Evaluating Their Associations with Somatic Mutations in Human Cancers. PMID:31402092
Genome-wide scan identifies opioid overdose risk locus close to MCOLN1. PMID:31362332
Identifying causal variants and genes using functional genomics in specialized cell types and contexts. PMID:31317254
Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations. PMID:31315583
Investigation of Leukocyte Telomere Length and Genetic Variants in Chromosome 5p15.33 as Prognostic Markers in Lung Cancer. PMID:31263055
High-throughput identification of human SNPs affecting regulatory element activity. PMID:31253979
GWAS of QRS duration identifies new loci specific to Hispanic/Latino populations. PMID:31251759
Association of ITGAX and ITGAM gene polymorphisms with susceptibility to IgA nephropathy. PMID:31227791
Different Methylation of CpG-SNPs in Behcet's Disease. PMID:31223615
Risk of spontaneous preterm birth and fetal growth associates with fetal SLIT2. PMID:31194736
Genetic variations in the transcription factors GATA4 and GATA6 and bleeding complications in patients receiving warfarin therapy. PMID:31190750
APOB gene polymorphisms may affect the risk of minor or minimal bleeding complications in patients on warfarin maintaining therapeutic INR. PMID:31186542
The association of germline variants with chronic lymphocytic leukemia outcome suggests the implication of novel genes and pathways in clinical evolution. PMID:31142279
Genetic Polymorphisms Affecting IDO1 or IDO2 Activity Differently Associate With Aspergillosis in Humans. PMID:31134053
QBiC-Pred: quantitative predictions of transcription factor binding changes due to sequence variants. PMID:31114870
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
Association between TIMP-2 gene polymorphism and breast cancer in Han Chinese women. PMID:31088428
Identification of Putative Regulatory Alterations Leading to Changes in Gene Expression in Chronic Obstructive Pulmonary Disease. PMID:31085807
Benefits and limitations of genome-wide association studies. PMID:31068683
Genetic variants in the circadian rhythm pathway as indicators of prostate cancer progression. PMID:30996687
Effect of genetic variants in cell adhesion pathways on the biochemical recurrence in prostate cancer patients with radical prostatectomy. PMID:30993852
Association of rs10830962 polymorphism with gestational diabetes mellitus risk in a Chinese population. PMID:30926842
Chronotype Genetic Variant in PER2 is Associated with Intrinsic Circadian Period in Humans. PMID:30926824
Genetic polymorphisms in IL1B predict susceptibility to steroid-induced osteonecrosis of the femoral head in Chinese Han population. PMID:30852631
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. PMID:30820047
Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci. PMID:30807572
A functional variant alters binding of activating protein 1 regulating expression of FGF7 gene associated with chronic obstructive pulmonary disease. PMID:30777021
Beyond a Binary Classification of Sex: An Examination of Brain Sex Differentiation, Psychopathology, and Genotype. PMID:30768381
Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia. PMID:30741946
Genome-wide association study of inhaled corticosteroid response in admixed children with asthma. PMID:30697902
From Genotype to Phenotype: Through Chromatin. PMID:30678090
Organic cation transporter 3 (Oct3) is a distinct catecholamines clearance route in adipocytes mediating the beiging of white adipose tissue. PMID:30653498
Genetic variants in RUNX3, AMD1 and MSRA in the methionine metabolic pathway and survival in nonsmall cell lung cancer patients. PMID:30650190
Genetic Variants Associated With Neurodegenerative Diseases Regulate Gene Expression in Immune Cell CD14+ Monocytes. PMID:30619483
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. PMID:30573655
The FCGR2C allele that modulated the risk of HIV-1 infection in the Thai RV144 vaccine trial is implicated in HIV-1 disease progression. PMID:30563969
Functional Prediction of Chronic Kidney Disease Susceptibility Gene PRKAG2 by Comprehensively Bioinformatics Analysis. PMID:30559760
Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study. PMID:30552067
Agnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer. PMID:30541042
atSNP Search: a web resource for statistically evaluating influence of human genetic variation on transcription factor binding. PMID:30534948
Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer. PMID:30529582
Heritability and Genome-Wide Association Study of Plasma Cholesterol in Chinese Adult Twins. PMID:30498476
Clinical significance of glutamate metabotropic receptors in renal cell carcinoma risk and survival. PMID:30488581
RT States: systematic annotation of the human genome using cell type-specific replication timing programs. PMID:30475980
OncoBase: a platform for decoding regulatory somatic mutations in human cancers. PMID:30445567
Functional regulatory mechanism of smooth muscle cell-restricted LMOD1 coronary artery disease locus. PMID:30444878
Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans. PMID:30403821
Genetic variation determines VEGF-A plasma levels in cancer patients. PMID:30397360
Association of ADAMTS4 and ADAMTS5 polymorphisms with musculoskeletal degenerative diseases: a systematic review and meta-analysis. PMID:30369484
Replication of the pharmacogenetic effect of rs678849 on buprenorphine efficacy in African-Americans with opioid use disorder. PMID:30368523
Association of the WNT3 polymorphisms and non-syndromic cleft lip with or without cleft palate: evidence from a meta-analysis. PMID:30355643
PopHumanScan: the online catalog of human genome adaptation. PMID:30335169
Genetics of Human Longevity From Incomplete Data: New Findings From the Long Life Family Study. PMID:30299504
Genetic variation in the SIM1 locus is associated with erectile dysfunction. PMID:30297428
LINC00673 rs11655237 Polymorphism Is Associated With Increased Risk of Cervical Cancer in a Chinese Population. PMID:30286619
Common variants at 5q33.1 predispose to migraine in African-American children. PMID:30266756
Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes. PMID:30224649
Meta-analysis of genome-wide association studies of aggressive and chronic periodontitis identifies two novel risk loci. PMID:30218097
Positional integration of lung adenocarcinoma susceptibility loci with primary human alveolar epithelial cell epigenomes. PMID:30212242
Genome-wide association meta-analysis of coronary artery disease and periodontitis reveals a novel shared risk locus. PMID:30209331
Exploring predictive biomarkers from clinical genome-wide association studies via multidimensional hierarchical mixture models. PMID:30202041
Type 2 Diabetes-Associated Genetic Variants Regulate Chromatin Accessibility in Human Islets. PMID:30181159
Sodium valproate rescues expression of TRANK1 in iPSC-derived neural cells that carry a genetic variant associated with serious mental illness. PMID:30135510
INFERNO: inferring the molecular mechanisms of noncoding genetic variants. PMID:30113658
Polymorphism studies on microRNA targetome of thalassemia. PMID:30108424
ANRIL: A lncRNA at the CDKN2A/B Locus With Roles in Cancer and Metabolic Disease. PMID:30087655
Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility. PMID:29979793
Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation. PMID:29955180
Identification of five novel genetic loci related to facial morphology by genome-wide association studies. PMID:29921221
Generalization and fine mapping of red blood cell trait genetic associations to multi-ethnic populations: The PAGE Study. PMID:29905378
Regulatory variants: from detection to predicting impact. PMID:29893792
LSCC SNP variant regulates SOX2 modulation of VDAC3. PMID:29854282
The combined effects of FADS gene variation and dietary fats in obesity-related traits in a population from the far north of Sweden: the GLACIER Study. PMID:29795460
GWAS4D: multidimensional analysis of context-specific regulatory variant for human complex diseases and traits. PMID:29771388
Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes. PMID:29771307
Genome-wide association analysis identifies a meningioma risk locus at 11p15.5. PMID:29762745
A Comprehensive cis-eQTL Analysis Revealed Target Genes in Breast Cancer Susceptibility Loci Identified in Genome-wide Association Studies. PMID:29727689
An Osteoporosis Risk SNP at 1p36.12 Acts as an Allele-Specific Enhancer to Modulate LINC00339 Expression via Long-Range Loop Formation. PMID:29706346
A common regulatory variant in SLC35B4 influences the recurrence and survival of prostate cancer. PMID:29682886
Physical decline and survival in the elderly are affected by the genetic variability of amino acid transporter genes. PMID:29676995
Emerging applications of genome-editing technology to examine functionality of GWAS-associated variants for complex traits. PMID:29652634
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
Genome-wide association study and meta-analysis identify loci associated with ventricular and supraventricular ectopy. PMID:29618737
Mammalian genomic regulatory regions predicted by utilizing human genomics, transcriptomics, and epigenetics data. PMID:29618048
IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis. PMID:29609200
Divergence in DNA Specificity among Paralogous Transcription Factors Contributes to Their Differential In Vivo Binding. PMID:29605182
Heritability and Genome-Wide Association Analyses of Serum Uric Acid in Middle and Old-Aged Chinese Twins. PMID:29559957
Maternal 5mCpG Imprints at the PARD6G-AS1 and GCSAML Differentially Methylated Regions Are Decoupled From Parent-of-Origin Expression Effects in Multiple Human Tissues. PMID:29545821
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. PMID:29531354
Integrative functional analysis of super enhancer SNPs for coronary artery disease. PMID:29491472
Genome-wide Association Study Identifies a Regulatory Variant of RGMA Associated With Opioid Dependence in European Americans. PMID:29478698
Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma. PMID:29452408
A High-risk Haplotype for Premature Menopause in Childhood Cancer Survivors Exposed to Gonadotoxic Therapy. PMID:29432556
The pharmacoepigenomics informatics pipeline defines a pathway of novel and known warfarin pharmacogenomics variants. PMID:29400612
Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus. PMID:29379196
Association of NRG1 and AUTS2 genetic polymorphisms with Hirschsprung disease in a South Chinese population. PMID:29377512
Cross-phenotype analysis of Immunochip data identifies KDM4C as a relevant locus for the development of systemic vasculitis. PMID:29374629
Whole genome sequence analyses of brain imaging measures in the Framingham Study. PMID:29282330
Ovarian cancer variant rs2072590 is associated with HOXD1 and HOXD3 gene expression. PMID:29262571
SLC6A14 Is a Genetic Modifier of Cystic Fibrosis That Regulates Pseudomonas aeruginosa Attachment to Human Bronchial Epithelial Cells. PMID:29259090
A functional variant in the OAS1 gene is associated with Sjögren's syndrome complicated with HBV infection. PMID:29242559
GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals. PMID:29213071
Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility. PMID:29196614
Associations between novel genetic variants in the promoter region of MALAT1 and risk of colorectal cancer. PMID:29190941
Functional mapping and annotation of genetic associations with FUMA. PMID:29184056
Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women. PMID:29158497
Association of variant in the ADIPOQ gene and functional study for its role in atherosclerosis. PMID:29156813
Identification of Pleiotropic Cancer Susceptibility Variants from Genome-Wide Association Studies Reveals Functional Characteristics. PMID:29150481
GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. PMID:29146897
Hidden heterogeneity in Alzheimer's disease: Insights from genetic association studies and other analyses. PMID:29107063
Cellular network perturbations by disease-associated variants. PMID:29057377
Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases. PMID:29053642
Convergence between biological, behavioural and genetic determinants of obesity. PMID:28989171
Variation in the α2A-adrenergic receptor gene and risk of gestational diabetes. PMID:28976299
Neuregulin signaling pathway in smoking behavior. PMID:28892072
Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies. PMID:28827732
Regions of common inter-individual DNA methylation differences in human monocytes: genetic basis and potential function. PMID:28747224
Genes and pathways underlying susceptibility to impaired lung function in the context of environmental tobacco smoke exposure. PMID:28738859
Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders. PMID:28733602
Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk. PMID:28671685
Implication of the APP Gene in Intellectual Abilities. PMID:28671113
Retinoic acid-related orphan receptor alpha (RORA) variants are associated with autism spectrum disorder. PMID:28608249
Genome-wide association study identifies multiple risk loci for renal cell carcinoma. PMID:28598434
KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment. PMID:28587604
Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis. PMID:28585551
Challenges and progress in interpretation of non-coding genetic variants associated with human disease. PMID:28581336
In silico pathway analysis and tissue specific cis-eQTL for colorectal cancer GWAS risk variants. PMID:28506205
Identifying low density lipoprotein cholesterol associated variants in the Annexin A2 (ANXA2) gene. PMID:28456096
Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium. PMID:28430825
Association between EN1 rs4144782 and susceptibility of knee osteoarthritis: A case-control study. PMID:28430581
A functional variant at the miRNA binding site in HMGB1 gene is associated with risk of oral squamous cell carcinoma. PMID:28423715
Evaluating the Impact of LTA4H Genotype and Immune Status on Survival From Tuberculous Meningitis. PMID:28419367
A potentially functional variant of ARID1B interacts with physical activity in association with risk of hepatocellular carcinoma. PMID:28415691
Myxovirus resistance protein A (MxA) polymorphism is associated with IFNβ response in Iranian multiple sclerosis patients. PMID:28386647
A sequence-based method to predict the impact of regulatory variants using random forest. PMID:28361702
NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. PMID:28360221
Discovery and fine-mapping of loci associated with MUFAs through trans-ethnic meta-analysis in Chinese and European populations. PMID:28298293
Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy. PMID:28277489
A genome-wide gene-by-trauma interaction study of alcohol misuse in two independent cohorts identifies PRKG1 as a risk locus. PMID:28265120
Functional annotation of sixty-five type-2 diabetes risk SNPs and its application in risk prediction. PMID:28262806
GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. PMID:28199695
Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. PMID:28166215
Colonic transcriptional response to 1α,25(OH)2 vitamin D3 in African- and European-Americans. PMID:28163244
Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos. PMID:28158719
Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans. PMID:28135054
DRD2 co-expression network and a related polygenic index predict imaging, behavioral and clinical phenotypes linked to schizophrenia. PMID:28094815
An endophenotype approach to the genetics of alcohol dependence: a genome wide association study of fast beta EEG in families of African ancestry. PMID:28070124
Accurate Promoter and Enhancer Identification in 127 ENCODE and Roadmap Epigenomics Cell Types and Tissues by GenoSTAN. PMID:28056037
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. PMID:28054174
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis. PMID:28041642
Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits. PMID:27992416
Identification of the Functional Variant(s) that Explain the Low-Density Lipoprotein Receptor (LDLR) GWAS SNP rs6511720 Association with Lower LDL-C and Risk of CHD. PMID:27973560
A candidate regulatory variant at the TREM gene cluster associates with decreased Alzheimer's disease risk and increased TREML1 and TREM2 brain gene expression. PMID:27939925
SNP2TFBS - a database of regulatory SNPs affecting predicted transcription factor binding site affinity. PMID:27899579
The Rate of Change in Alcohol Misuse Across Adolescence is Heritable. PMID:27892595
A childhood acute lymphoblastic leukemia genome-wide association study identifies novel sex-specific risk variants. PMID:27861356
3DSNP: a database for linking human noncoding SNPs to their three-dimensional interacting genes. PMID:27789693
Associations Between Fetal Imprinted Genes and Maternal Blood Pressure in Pregnancy. PMID:27777362
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. PMID:27702942
Transcriptional Dynamics at Brain Enhancers: from Functional Specialization to Neurodegeneration. PMID:27628759
Exploration and detection of potential regulatory variants in refractive error GWAS. PMID:27604318
Genetic variants of SOX9 contribute to susceptibility of gliomas among Chinese population. PMID:27589569
MiR-155 and its functional variant rs767649 contribute to the susceptibility and survival of hepatocellular carcinoma. PMID:27531892
Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma. PMID:27501781
Genome-wide association analysis of pain severity in dysmenorrhea identifies association at chromosome 1p13.2, near the nerve growth factor locus. PMID:27454463
Genetic-risk assessment of GWAS-derived susceptibility loci for type 2 diabetes in a 10 year follow-up of a population-based cohort study. PMID:27439680
Functional Characterization of the Osteoarthritis Susceptibility Mapping to CHST11-A Bioinformatics and Molecular Study. PMID:27391021
Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants. PMID:27379672
The genetic regulatory signature of type 2 diabetes in human skeletal muscle. PMID:27353450
A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding. PMID:27259051
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions. PMID:27224906
Serpin peptidase inhibitor (SERPINB5) haplotypes are associated with susceptibility to hepatocellular carcinoma. PMID:27221742
LBH Gene Transcription Regulation by the Interplay of an Enhancer Risk Allele and DNA Methylation in Rheumatoid Arthritis. PMID:27159840
Association Between PIP4K2A Polymorphisms and Acute Lymphoblastic Leukemia Susceptibility. PMID:27149463
Genome-Wide Association of the Laboratory-Based Nicotine Metabolite Ratio in Three Ancestries. PMID:27113016
SMAD7 loci contribute to risk of hepatocellular carcinoma and clinicopathologic development among Chinese Han population. PMID:26989026
Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array. PMID:26964030
Analysis of Genomic Sequence Motifs for Deciphering Transcription Factor Binding and Transcriptional Regulation in Eukaryotic Cells. PMID:26941778
http://dx.doi.org/10.1093/nar/GKR917

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allele frequency
metasource: Fairsharing.org
version: FAIRsharing.org: HaploReg; HaploReg; DOI: https://doi.org/10.25504/FAIRsharing.x18jh7; Last edited: Jan. 8, 2019, 1:13 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

annotation
metasource: Fairsharing.org
version: FAIRsharing.org: HaploReg; HaploReg; DOI: https://doi.org/10.25504/FAIRsharing.x18jh7; Last edited: Jan. 8, 2019, 1:13 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

biological regulation
metasource: Fairsharing.org
version: FAIRsharing.org: HaploReg; HaploReg; DOI: https://doi.org/10.25504/FAIRsharing.x18jh7; Last edited: Jan. 8, 2019, 1:13 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

chromatin immunoprecipitation - dna sequencing
metasource: Fairsharing.org
version: FAIRsharing.org: HaploReg; HaploReg; DOI: https://doi.org/10.25504/FAIRsharing.x18jh7; Last edited: Jan. 8, 2019, 1:13 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

chromatin structure variation
metasource: Fairsharing.org
version: FAIRsharing.org: HaploReg; HaploReg; DOI: https://doi.org/10.25504/FAIRsharing.x18jh7; Last edited: Jan. 8, 2019, 1:13 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

conserved region
metasource: Fairsharing.org
version: FAIRsharing.org: HaploReg; HaploReg; DOI: https://doi.org/10.25504/FAIRsharing.x18jh7; Last edited: Jan. 8, 2019, 1:13 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

human genes and diseases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

general polymorphism databases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

allele frequency biological regulation chromatin immunoprecipitation - dna sequencing chromatin structure variation conserved region human genes and diseases polymorphism

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HaploReg

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The International Genome Sample Resource

3DSNP

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SNPeffect

ncRNA-eQTL

rVarbase

TopoSNP

1000 Genomes Selection Browser

ENCODE Project

Encyclopedia of DNA Elements at UCSC

Chromium Epigenomics Toxicology

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SNPlogic

Allele frequency resource for research and teaching

lncRNASNP

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