Genome-Wide Association Study

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  Subject Areas on Research

  • 450K epigenome-wide scan identifies differential DNA methylation in newborns related to maternal smoking during pregnancy. 
  • A GWAS Study on Liver Function Test Using eMERGE Network Participants. 
  • A Genetic Response Score for Hydrochlorothiazide Use: Insights From Genomics and Metabolomics Integration. 
  • A Heritable Missense Polymorphism in CDKN2A Confers Strong Risk of Childhood Acute Lymphoblastic Leukemia and Is Preferentially Selected during Clonal Evolution. 
  • A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 
  • A Novel Genetic Variant in Long Non-coding RNA Gene NEXN-AS1 is Associated with Risk of Lung Cancer. 
  • A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. 
  • A bayesian analysis strategy for cross-study translation of gene expression biomarkers. 
  • A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 
  • A cellular genome-wide association study reveals human variation in microtubule stability and a role in inflammatory cell death. 
  • A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. 
  • A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. 
  • A comprehensive genome-wide analysis of melanoma Breslow thickness identifies interaction between CDC42 and SCIN genetic variants. 
  • A formalin-fixed paraffin-embedded (FFPE)-based prognostic signature to predict metastasis in clinically low risk stage I/II microsatellite stable colorectal cancer. 
  • A functional polymorphism in the CEBPE gene promoter influences acute lymphoblastic leukemia risk through interaction with the hematopoietic transcription factor Ikaros. 
  • A functional variant in HOXA11-AS, a novel long non-coding RNA, inhibits the oncogenic phenotype of epithelial ovarian cancer. 
  • A genetic risk score is associated with incident cardiovascular disease and coronary artery calcium: the Framingham Heart Study. 
  • A genetic stochastic process model for genome-wide joint analysis of biomarker dynamics and disease susceptibility with longitudinal data. 
  • A genome-wide Drosophila screen for heat nociception identifies α2δ3 as an evolutionarily conserved pain gene. 
  • A genome-wide analysis of open chromatin in human epididymis epithelial cells reveals candidate regulatory elements for genes coordinating epididymal function. 
  • A genome-wide analysis of open chromatin in human tracheal epithelial cells reveals novel candidate regulatory elements for lung function. 
  • A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence. 
  • A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. 
  • A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk. 
  • A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex. 
  • A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. 
  • A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. 
  • A genome-wide association study identifies a novel susceptibility locus for the immunogenicity of polyethylene glycol. 
  • A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101. 
  • A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. 
  • A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese. 
  • A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing. 
  • A genome-wide association study of antidepressant response in Koreans. 
  • A genome-wide association study of central corneal thickness in Latinos. 
  • A genome-wide association study of corneal astigmatism: The CREAM Consortium. 
  • A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort. 
  • A genome-wide association study of myasthenia gravis. 
  • A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303. 
  • A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A 
  • A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia. 
  • A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. 
  • A genome-wide association study of variants associated with acquisition of Staphylococcus aureus bacteremia in a healthcare setting. 
  • A genome-wide association study reveals a quantitative trait locus of adiponectin on CDH13 that predicts cardiometabolic outcomes. 
  • A genome-wide association study suggests new evidence for an association of the NADPH Oxidase 4 (NOX4) gene with severe diabetic retinopathy in type 2 diabetes. 
  • A genome-wide in vitro bacterial-infection screen reveals human variation in the host response associated with inflammatory disease. 
  • A genome-wide linkage and association scan reveals novel loci for autism. 
  • A genome-wide scan for common alleles affecting risk for autism. 
  • A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. 
  • A genome-wide trans-ethnic interaction study links the PIGR-FCAMR locus to coronary atherosclerosis via interactions between genetic variants and residential exposure to traffic. 
  • A global network for investigating the genomic epidemiology of malaria. 
  • A global reference for human genetic variation. 
  • A high-density genome-wide association screen of sporadic ALS in US veterans. 
  • A hybrid bayesian approach for genome-wide association studies on related individuals. 
  • A hybrid framework for genome wide epistasis discovery. 
  • A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 
  • A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. 
  • A meta-analysis of four genome-wide association studies of survival to age 90 years or older: the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium. 
  • A meta-analysis of gene expression signatures of blood pressure and hypertension. 
  • A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. 
  • A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease. 
  • A neurogenetics approach to understanding individual differences in brain, behavior, and risk for psychopathology. 
  • A new locus for familial FSGS on chromosome 2p. 
  • A note from the editors. 
  • A novel Alzheimer disease locus located near the gene encoding tau protein. 
  • A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. 
  • A novel haplotype-sharing approach for genome-wide case-control association studies implicates the calpastatin gene in Parkinson's disease. 
  • A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. 
  • A novel variant marking HLA-DP expression levels predicts recovery from hepatitis B virus infection. 
  • A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum. 
  • A splicing variant of TERT identified by GWAS interacts with menopausal estrogen therapy in risk of ovarian cancer. 
  • A statistical method for region-based meta-analysis of genome-wide association studies in genetically diverse populations. 
  • A study assessing the association of glycated hemoglobin A1C (HbA1C) associated variants with HbA1C, chronic kidney disease and diabetic retinopathy in populations of Asian ancestry. 
  • A targeted genetic association study of epithelial ovarian cancer susceptibility. 
  • A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. 
  • A validated regulatory network for Th17 cell specification. 
  • A variant in FTO shows association with melanoma risk not due to BMI. 
  • ABCA transporter gene expression and poor outcome in epithelial ovarian cancer. 
  • ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma. 
  • AMD and the alternative complement pathway: genetics and functional implications. 
  • Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study. 
  • Advancing drug discovery for schizophrenia. 
  • African Ancestry Analysis and Admixture Genetic Mapping for Proliferative Diabetic Retinopathy in African Americans. 
  • African-derived genetic polymorphisms in TNFAIP3 mediate risk for autoimmunity. 
  • Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age. 
  • Aggregate Effects of Intraocular Pressure and Cup-to-Disc Ratio Genetic Variants on Glaucoma in a Multiethnic Asian Population. 
  • Aging-related atherosclerosis is exacerbated by arterial expression of tumor necrosis factor receptor-1: evidence from mouse models and human association studies. 
  • Allele-specific distribution of RNA polymerase II on female X chromosomes. 
  • Alzheimer disease pathology in cognitively healthy elderly: a genome-wide study. 
  • Alzheimer's Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci. 
  • An Atlas of Genetic Variation Linking Pathogen-Induced Cellular Traits to Human Disease. 
  • An analysis of single nucleotide polymorphisms of 125 DNA repair genes in the Texas genome-wide association study of lung cancer with a replication for the XRCC4 SNPs. 
  • An application of Random Forests to a genome-wide association dataset: methodological considerations & new findings. 
  • An atlas of genetic influences on human blood metabolites. 
  • An ensemble model of competitive multi-factor binding of the genome. 
  • An integrated encyclopedia of DNA elements in the human genome. 
  • An integrated map of genetic variation from 1,092 human genomes. 
  • An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error. 
  • Analysis of 60 reported glioma risk SNPs replicates published GWAS findings but fails to replicate associations from published candidate-gene studies. 
  • Analysis of Genetic and Non-Genetic Factors Influencing Timing and Time Perception. 
  • Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families. 
  • Analysis of shared heritability in common disorders of the brain. 
  • Anti-VEGF treatment-resistant pancreatic cancers secrete proinflammatory factors that contribute to malignant progression by inducing an EMT cell phenotype. 
  • Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. 
  • Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore? 
  • Assessment of the genetic variance of late-onset Alzheimer's disease. 
  • Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. 
  • Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 
  • Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease. 
  • Association between Adult Height and Risk of Colorectal, Lung, and Prostate Cancer: Results from Meta-analyses of Prospective Studies and Mendelian Randomization Analyses. 
  • Association between functional polymorphisms in genes involved in the MAPK signaling pathways and cutaneous melanoma risk. 
  • Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study. 
  • Association between novel PLCE1 variants identified in published esophageal cancer genome-wide association studies and risk of squamous cell carcinoma of the head and neck. 
  • Association between putative functional variants in the PSMB9 gene and risk of melanoma--re-analysis of published melanoma genome-wide association studies. 
  • Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study. 
  • Association of a Novel Mutation in the Plasmodium falciparum Chloroquine Resistance Transporter With Decreased Piperaquine Sensitivity. 
  • Association of a novel functional promoter variant (rs2075533 C>T) in the apoptosis gene TNFSF8 with risk of lung cancer--a finding from Texas lung cancer genome-wide association study. 
  • Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans. 
  • Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy. 
  • Association of exome sequences with plasma C-reactive protein levels in >9000 participants. 
  • Association of genetic variation in IKZF1, ARID5B, and CEBPE and surrogates for early-life infections with the risk of acute lymphoblastic leukemia in Hispanic children. 
  • Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. 
  • Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. 
  • Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore. 
  • Association study of nicotinic acetylcholine receptor genes identifies a novel lung cancer susceptibility locus near CHRNA1 in African-Americans. 
  • Associations between APOE variants and metabolic traits and the impact of psychological stress. 
  • Associations between RNA splicing regulatory variants of stemness-related genes and racial disparities in susceptibility to prostate cancer. 
  • Associations between genetic variants in mRNA splicing-related genes and risk of lung cancer: a pathway-based analysis from published GWASs. 
  • Associations between smoking behavior-related alleles and the risk of melanoma. 
  • Associations between variants near a monoaminergic pathways gene (PHOX2B) and amygdala reactivity: a genome-wide functional imaging study. 
  • Assortative mating and differential fertility by phenotype and genotype across the 20th century. 
  • Attempted replication of 50 reported asthma risk genes identifies a SNP in RAD50 as associated with childhood atopic asthma. 
  • BMI1 enhancer polymorphism underlies chromosome 10p12.31 association with childhood acute lymphoblastic leukemia. 
  • Beta-defensin 1, aryl hydrocarbon receptor and plasma kynurenine in major depressive disorder: metabolomics-informed genomics. 
  • Beyond QTL cloning. 
  • Biological, clinical and population relevance of 95 loci for blood lipids. 
  • Birth Cohort, Age, and Sex Strongly Modulate Effects of Lipid Risk Alleles Identified in Genome-Wide Association Studies. 
  • Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer. 
  • CELF4 Variant and Anthracycline-Related Cardiomyopathy: A Children's Oncology Group Genome-Wide Association Study. 
  • CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy. 
  • CMPK1 and RBP3 are associated with corneal curvature in Asian populations. 
  • COMT val108/158 met genotype affects neural but not cognitive processing in healthy individuals. 
  • CPAG: software for leveraging pleiotropy in GWAS to reveal similarity between human traits links plasma fatty acids and intestinal inflammation. 
  • Cancer pharmacogenomics and pharmacoepidemiology: setting a research agenda to accelerate translation. 
  • Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe). 
  • Car8 dorsal root ganglion expression and genetic regulation of analgesic responses are associated with a cis-eQTL in mice. 
  • Causal Effect of Plasminogen Activator Inhibitor Type 1 on Coronary Heart Disease. 
  • Cell-type specific and combinatorial usage of diverse transcription factors revealed by genome-wide binding studies in multiple human cells. 
  • Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci. 
  • Challenges in elucidating the genetics of diabetic retinopathy. 
  • Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. 
  • Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium. 
  • Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG. 
  • Circulating vitamin D concentration and risk of seven cancers: Mendelian randomisation study. 
  • Cis-acting polymorphisms affect complex traits through modifications of microRNA regulation pathways. 
  • Clarifying the role of ATOH7 in glaucoma endophenotypes. 
  • Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing. 
  • Clinical and Genetic Risk Factors for Acute Pancreatitis in Patients With Acute Lymphoblastic Leukemia. 
  • Clinical and genetic correlates of growth differentiation factor 15 in the community. 
  • Collagen-related genes influence the glaucoma risk factor, central corneal thickness. 
  • Combined and interactive effects of environmental and GWAS-identified risk factors in ovarian cancer. 
  • Combined genotype and haplotype tests for region-based association studies. 
  • Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD. 
  • Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls. 
  • Common genetic determinants of intraocular pressure and primary open-angle glaucoma. 
  • Common genetic variants associated with resting oxygenation in chronic obstructive pulmonary disease. 
  • Common genetic variants associated with telomere length confer risk for neuroblastoma and other childhood cancers. 
  • Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. 
  • Common genetic variants on 5p14.1 associate with autism spectrum disorders. 
  • Common genetic variants on 8q24 contribute to susceptibility to bladder cancer in a Chinese population. 
  • Common genetic variation and performance on standardized cognitive tests. 
  • Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. 
  • Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population. 
  • Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts. 
  • Common minor histocompatibility antigen discovery based upon patient clinical outcomes and genomic data. 
  • Common variants at 19p13 are associated with susceptibility to ovarian cancer. 
  • Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. 
  • Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. 
  • Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 
  • Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer. 
  • Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma. 
  • Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. 
  • Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 
  • Common variants within 6p21.31 locus are associated with chronic lymphocytic leukaemia and, potentially, other non-Hodgkin lymphoma subtypes. 
  • Comparing methods for performing trans-ethnic meta-analysis of genome-wide association studies. 
  • Comparison of Corneal Biomechanical Properties between Indian and Chinese Adults. 
  • Complete effect-profile assessment in association studies with multiple genetic and multiple environmental factors. 
  • Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas. 
  • Comprehensive functional genomic resource and integrative model for the human brain. 
  • Connecting genetic risk to disease end points through the human blood plasma proteome. 
  • Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk. 
  • Contemporary Considerations for Constructing a Genetic Risk Score: An Empirical Approach. 
  • Control for confounding in case-control studies using the stratification score, a retrospective balancing score. 
  • Coordinated regulatory variation associated with gestational hyperglycaemia regulates expression of the novel hexokinase HKDC1. 
  • Copy number variation at chromosome 5q21.2 is associated with intraocular pressure. 
  • Cross Cancer Genomic Investigation of Inflammation Pathway for Five Common Cancers: Lung, Ovary, Prostate, Breast, and Colorectal Cancer. 
  • Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 
  • Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. 
  • Cross-platform prediction of gene expression signatures. 
  • Cytokine biomarkers and chronic pain: association of genes, transcription, and circulating proteins with temporomandibular disorders and widespread palpation tenderness. 
  • DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease. 
  • Decision tree-based method for integrating gene expression, demographic, and clinical data to determine disease endotypes. 
  • Deep Sequencing of Three Loci Implicated in Large-Scale Genome-Wide Association Study Smoking Meta-Analyses. 
  • Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. 
  • Deep-coverage whole genome sequences and blood lipids among 16,324 individuals. 
  • Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups. 
  • Design, recruitment, logistics, and data management of the GEHA (Genetics of Healthy Ageing) project. 
  • Detectable clonal mosaicism from birth to old age and its relationship to cancer. 
  • Development and evaluation of a genetic risk score for obesity. 
  • Differential expression of the nuclear-encoded mitochondrial transcriptome in pediatric septic shock. 
  • Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma. 
  • Discovery and refinement of loci associated with lipid levels. 
  • Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative women. 
  • Distinct Epigenetic Effects of Tobacco Smoking in Whole Blood and among Leukocyte Subtypes. 
  • Distribution and medical impact of loss-of-function variants in the Finnish founder population. 
  • Dusp3 and Psme3 are associated with murine susceptibility to Staphylococcus aureus infection and human sepsis. 
  • ENIGMA and the individual: Predicting factors that affect the brain in 35 countries worldwide. 
  • Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies. 
  • Effect of Human Genetic Variability on Gene Expression in Dorsal Root Ganglia and Association with Pain Phenotypes. 
  • Effect of genetic variations on ticagrelor plasma levels and clinical outcomes. 
  • Effects of Schizophrenia Polygenic Risk Scores on Brain Activity and Performance During Working Memory Subprocesses in Healthy Young Adults. 
  • Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. 
  • Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms. 
  • Elucidating the role of plexin D1 in body fat distribution and susceptibility to metabolic disease using a zebrafish model system. 
  • Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci. 
  • Epidemiologic and genetic aspects of spina bifida and other neural tube defects. 
  • Epidemiology, genetics, and subtyping of preserved ratio impaired spirometry (PRISm) in COPDGene. 
  • Epigenetics and psychostimulant addiction. 
  • Epigenome-wide association of PTSD from heterogeneous cohorts with a common multi-site analysis pipeline. 
  • Epigenome-wide association study of metabolic syndrome in African-American adults. 
  • Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium. 
  • Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk. 
  • Essential and unexpected role of Yin Yang 1 to promote mesodermal cardiac differentiation. 
  • European American stratification in ovarian cancer case control data: the utility of genome-wide data for inferring ancestry. 
  • Evaluating the ovarian cancer gonadotropin hypothesis: a candidate gene study. 
  • Evaluation of chromatin accessibility in prefrontal cortex of individuals with schizophrenia. 
  • Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations. 
  • Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index. 
  • Evidence of CNIH3 involvement in opioid dependence. 
  • Evidence of a genetic link between endometriosis and ovarian cancer. 
  • Evidence-ranked motif identification. 
  • Exome Sequence Analysis of 14 Families With High Myopia. 
  • Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease. 
  • Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk. 
  • Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. 
  • Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. 
  • Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. 
  • Explicating heterogeneity of complex traits has strong potential for improving GWAS efficiency. 
  • Exploiting expression patterns across multiple tissues to map expression quantitative trait loci. 
  • Expression Profiling of Human Schlemm's Canal Endothelial Cells From Eyes With and Without Glaucoma. 
  • Extensive changes in the expression of the opioid genes between humans and chimpanzees. 
  • Fast and robust association tests for untyped SNPs in case-control studies. 
  • Father Absence and Accelerated Reproductive Development in Non-Hispanic White Women in the United States. 
  • Feasibility of using Clinical Element Models (CEM) to standardize phenotype variables in the database of genotypes and phenotypes (dbGaP). 
  • Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster. 
  • Fine-mapping of the 5p15.33, 6p22.1-p21.31, and 15q25.1 regions identifies functional and histology-specific lung cancer susceptibility loci in African-Americans. 
  • Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. 
  • From genome-wide to candidate gene: an investigation of variation at the major histocompatibility complex in common bottlenose dolphins exposed to harmful algal blooms. 
  • Functional Annotation Signatures of Disease Susceptibility Loci Improve SNP Association Analysis 
  • Functional Variants in Notch Pathway Genes NCOR2, NCSTN, and MAML2 Predict Survival of Patients with Cutaneous Melanoma. 
  • Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. 
  • Functional impact of global rare copy number variation in autism spectrum disorders. 
  • Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus. 
  • Functional modules, mutational load and human genetic disease. 
  • Functional polymorphisms of CHRNA3 predict risks of chronic obstructive pulmonary disease and lung cancer in Chinese. 
  • Functional variants in DCAF4 associated with lung cancer risk in European populations. 
  • Future directions in pharmacogenomics discovery in cardiovascular disease. 
  • GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos. 
  • GWAS analyzer: integrating genotype, phenotype and public annotation data for genome-wide association study analysis. 
  • GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21. 
  • GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. 
  • GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium. 
  • GWAS or Gee Whiz, PSAS or Pshaw: elucidating the biologic and clinical significance of genetic variation in cardiovascular disease. 
  • Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene. 
  • Gene expression elucidates functional impact of polygenic risk for schizophrenia. 
  • Gene set analysis of survival following ovarian cancer implicates macrolide binding and intracellular signaling genes. 
  • Gene variants in angiogenesis and lymphangiogenesis and cutaneous melanoma progression. 
  • Gene-environment interactions in cancer epidemiology: a National Cancer Institute Think Tank report. 
  • Genes and environment in neonatal intraventricular hemorrhage. 
  • Genes determining blood cell traits. 
  • Genetic Association of Major Depression With Atypical Features and Obesity-Related Immunometabolic Dysregulations. 
  • Genetic Determinants of Circulating Estrogen Levels and Evidence of a Causal Effect of Estradiol on Bone Density in Men. 
  • Genetic Influences on Plasma Homocysteine Levels in African Americans and Yoruba Nigerians. 
  • Genetic Variants in CPA6 and PRPF31 Are Associated With Variation in Response to Metformin in Individuals With Type 2 Diabetes. 
  • Genetic Variants in WNT2B and BTRC Predict Melanoma Survival. 
  • Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. 
  • Genetic Variants on Chromosome 1q41 Influence Ocular Axial Length and High Myopia 
  • Genetic Variation Associated with Longer Telomere Length Increases Risk of Chronic Lymphocytic Leukemia. 
  • Genetic analysis of social-class mobility in five longitudinal studies. 
  • Genetic and environmental correlates of topiramate-induced cognitive impairment. 
  • Genetic architecture of artemisinin-resistant Plasmodium falciparum. 
  • Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. 
  • Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels. 
  • Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 
  • Genetic contribution to variation in DNA methylation at maternal smoking-sensitive loci in exposed neonates. 
  • Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models. 
  • Genetic contributions to urgency urinary incontinence in women. 
  • Genetic correlates of insight in schizophrenia. 
  • Genetic determinants of adiponectin regulation revealed by pregnancy. 
  • Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study. 
  • Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. 
  • Genetic determinants of renal transplant outcome: where do we stand? 
  • Genetic determinants of serum testosterone concentrations in men. 
  • Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis. 
  • Genetic loci for retinal arteriolar microcirculation. 
  • Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study. 
  • Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits. 
  • Genetic predisposition to higher blood pressure increases coronary artery disease risk. 
  • Genetic regulation of platelet receptor expression and function: application in clinical practice and drug development. 
  • Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. 
  • Genetic sensitivity to the environment: the case of the serotonin transporter gene and its implications for studying complex diseases and traits. 
  • Genetic simulation tools for post-genome wide association studies of complex diseases. 
  • Genetic studies of body mass index yield new insights for obesity biology. 
  • Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. 
  • Genetic susceptibility variants for chronic lymphocytic leukemia. 
  • Genetic variant in DNA repair gene GTF2H4 is associated with lung cancer risk: a large-scale analysis of six published GWAS datasets in the TRICL consortium. 
  • Genetic variant of IRAK2 in the toll-like receptor signaling pathway and survival of non-small cell lung cancer. 
  • Genetic variant of PRKAA1 and gastric cancer risk in an eastern Chinese population. 
  • Genetic variants associated with vein graft stenosis after coronary artery bypass grafting. 
  • Genetic variants in ABCG1 are associated with survival of nonsmall-cell lung cancer patients. 
  • Genetic variants in RORA and DNMT1 associated with cutaneous melanoma survival. 
  • Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 
  • Genetic variants in the PIWI-piRNA pathway gene DCP1A predict melanoma disease-specific survival. 
  • Genetic variants in the integrin signaling pathway genes predict cutaneous melanoma survival. 
  • Genetic variants in the metzincin metallopeptidase family genes predict melanoma survival. 
  • Genetic variants in the platelet-derived growth factor subunit B gene associated with pancreatic cancer risk. 
  • Genetic variants in the vitamin D pathway genes VDBP and RXRA modulate cutaneous melanoma disease-specific survival. 
  • Genetic variants near PDGFRA are associated with corneal curvature in Australians. 
  • Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. 
  • Genetic variants of PTPN2 are associated with lung cancer risk: a re-analysis of eight GWASs in the TRICL-ILCCO consortium. 
  • Genetic variants of genes in the Notch signaling pathway predict overall survival of non-small cell lung cancer patients in the PLCO study. 
  • Genetic variants primarily associated with type 2 diabetes are related to coronary artery disease risk. 
  • Genetic variation in HTR2A influences serotonin transporter binding potential as measured using PET and [11C]DASB. 
  • Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance. 
  • Genetic variation in PEAR1 is associated with platelet aggregation and cardiovascular outcomes. 
  • Genetically Determined Plasma Lipid Levels and Risk of Diabetic Retinopathy: A Mendelian Randomization Study. 
  • Genetically determined P2X7 receptor pore formation regulates variability in chronic pain sensitivity. 
  • Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study. 
  • Genome Engineering for Personalized Arthritis Therapeutics. 
  • Genome-Wide Association Study Links Receptor Tyrosine Kinase Inhibitor Sprouty 2 to Thrombocytopenia after Coronary Artery Bypass Surgery. 
  • Genome-Wide Association Study Meta-Analysis of Long-Term Average Blood Pressure in East Asians. 
  • Genome-Wide Association Study to Identify Susceptibility Loci That Modify Radiation-Related Risk for Breast Cancer After Childhood Cancer. 
  • Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality. 
  • Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. 
  • Genome-Wide Meta-Analysis of Longitudinal Alcohol Consumption Across Youth and Early Adulthood. 
  • Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16. 
  • Genome-wide Analysis Identifies Novel Loci Associated with Ovarian Cancer Outcomes: Findings from the Ovarian Cancer Association Consortium. 
  • Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases. 
  • Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. 
  • Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia. 
  • Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types. 
  • Genome-wide analysis of miRNA signature in the APPswe/PS1ΔE9 mouse model of alzheimer's disease. 
  • Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. 
  • Genome-wide and candidate gene approaches of clopidogrel efficacy using pharmacodynamic and clinical end points-Rationale and design of the International Clopidogrel Pharmacogenomics Consortium (ICPC). 
  • Genome-wide and fine-resolution association analysis of malaria in West Africa. 
  • Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. 
  • Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. 
  • Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. 
  • Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. 
  • Genome-wide association for smoking cessation success in a trial of precessation nicotine replacement. 
  • Genome-wide association for smoking cessation success: participants in a trial with adjunctive denicotinized cigarettes. 
  • Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. 
  • Genome-wide association identifies diverse causes of common variable immunodeficiency. 
  • Genome-wide association meta-analyses to identify common genetic variants associated with hallux valgus in Caucasian and African Americans. 
  • Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. 
  • Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21. 
  • Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. 
  • Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. 
  • Genome-wide association studies in Africans and African Americans: expanding the framework of the genomics of human traits and disease. 
  • Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area. 
  • Genome-wide association studies in East Asians identify new loci for waist-hip ratio and waist circumference. 
  • Genome-wide association studies in asthma: what they really told us about pathogenesis. 
  • Genome-wide association studies of cancer predisposition. 
  • Genome-wide association studies of cancer. 
  • Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese. 
  • Genome-wide association study and meta-analysis of intraocular pressure. 
  • Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. 
  • Genome-wide association study evaluating single-nucleotide polymorphisms and outcomes in patients with advanced stage serous ovarian or primary peritoneal cancer: An NRG Oncology/Gynecologic Oncology Group study. 
  • Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. 
  • Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. 
  • Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes. 
  • Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos. 
  • Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia. 
  • Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. 
  • Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. 
  • Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL. 
  • Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. 
  • Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia. 
  • Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. 
  • Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. 
  • Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women. 
  • Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk. 
  • Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma. 
  • Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. 
  • Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma. 
  • Genome-wide association study identifies three new melanoma susceptibility loci. 
  • Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. 
  • Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population. 
  • Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. 
  • Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. 
  • Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations. 
  • Genome-wide association study in a Chinese population identifies a susceptibility locus for type 2 diabetes at 7q32 near PAX4. 
  • Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. 
  • Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci. 
  • Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study. 
  • Genome-wide association study of Parkinson's disease in East Asians. 
  • Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci. 
  • Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). 
  • Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway. 
  • Genome-wide association study of bipolar I disorder in the Han Chinese population. 
  • Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders. 
  • Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32. 
  • Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 
  • Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients. 
  • Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus. 
  • Genome-wide association study of new-onset atrial fibrillation after coronary artery bypass grafting surgery. 
  • Genome-wide association study of obsessive-compulsive disorder. 
  • Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery. 
  • Genome-wide association study of posttraumatic stress disorder in a cohort of Iraq-Afghanistan era veterans. 
  • Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations. 
  • Genome-wide association study of prostate cancer in men of African ancestry identifies a susceptibility locus at 17q21. 
  • Genome-wide association study of retinopathy in individuals without diabetes. 
  • Genome-wide association study of sepsis in extremely premature infants. 
  • Genome-wide association study of severity in multiple sclerosis. 
  • Genome-wide association study of smoking behaviours in patients with COPD. 
  • Genome-wide association study of subcortical brain volume in PTSD cases and trauma-exposed controls. 
  • Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA. 
  • Genome-wide association study of suicidal ideation emerging during citalopram treatment of depressed outpatients. 
  • Genome-wide association study of treatment refractory schizophrenia in Han Chinese. 
  • Genome-wide association study on progression of carotid artery intima media thickness over 10 years in a Chinese cohort. 
  • Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer. 
  • Genome-wide chromatin footprinting reveals changes in replication origin architecture induced by pre-RC assembly. 
  • Genome-wide chromatin state transitions associated with developmental and environmental cues. 
  • Genome-wide high-density SNP linkage search for glioma susceptibility loci: results from the Gliogene Consortium. 
  • Genome-wide linkage analysis for human longevity: Genetics of Healthy Aging Study. 
  • Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics using novel sumLINK and sumLOD analyses. 
  • Genome-wide linkage analysis of cardiovascular disease biomarkers in a large, multigenerational family. 
  • Genome-wide linkage analysis of quantitative biomarker traits of osteoarthritis in a large, multigenerational extended family. 
  • Genome-wide linkage scan for primary open angle glaucoma: influences of ancestry and age at diagnosis. 
  • Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18. 
  • Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. 
  • Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. 
  • Genome-wide meta-analyses identifies novel taxane-induced peripheral neuropathy-associated loci. 
  • Genome-wide meta-analyses identify multiple loci associated with smoking behavior. 
  • Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. 
  • Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke. 
  • Genome-wide methylation analysis identifies genes specific to breast cancer hormone receptor status and risk of recurrence. 
  • Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. 
  • Genome-wide scan of copy number variation in late-onset Alzheimer's disease. 
  • Genome-wide significant risk associations for mucinous ovarian carcinoma. 
  • Genome-wide study of DNA methylation alterations in response to diazinon exposure in vitro. 
  • Genome-wide study of methotrexate clearance replicates SLCO1B1. 
  • Genome-wide survey and expression analysis of the OSCA gene family in rice. 
  • Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. 
  • Genome-wide, high-content siRNA screening identifies the Alzheimer's genetic risk factor FERMT2 as a major modulator of APP metabolism. 
  • Genomewide association studies of suicide attempts in US soldiers. 
  • Genomic ancestry and somatic alterations correlate with age at diagnosis in Hispanic children with B-cell acute lymphoblastic leukemia. 
  • Genomic landscapes of breast fibroepithelial tumors. 
  • Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma. 
  • Genomics of human health and aging. 
  • Geographical genomics of human leukocyte gene expression variation in southern Morocco. 
  • Getting biological about the genetics of diabetes. 
  • Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci. 
  • HDMX regulates p53 activity and confers chemoresistance to 3-bis(2-chloroethyl)-1-nitrosourea. 
  • HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. 
  • Harmonization of Neuroticism and Extraversion phenotypes across inventories and cohorts in the Genetics of Personality Consortium: an application of Item Response Theory. 
  • Hepatocyte growth factor and myopia: genetic association analyses in a Caucasian population. 
  • Hereditary link: scientists seek clues in genetic risks for prostate cancer. 
  • Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. 
  • High-resolution mapping of open chromatin in the rice genome. 
  • How genes influence life span: the biodemography of human survival. 
  • Human genetic and metabolite variation reveals that methylthioadenosine is a prognostic biomarker and an inflammatory regulator in sepsis. 
  • Human genetic variation in VAC14 regulates Salmonella invasion and typhoid fever through modulation of cholesterol. 
  • IL28B genomic-based treatment paradigms for patients with chronic hepatitis C infection: the future of personalized HCV therapies. 
  • ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. 
  • Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. 
  • Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. 
  • Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. 
  • Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis. 
  • Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies. 
  • Identification of a candidate gene for astigmatism. 
  • Identification of a melanoma susceptibility locus and somatic mutation in TET2. 
  • Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. 
  • Identification of new susceptibility loci for IgA nephropathy in Han Chinese. 
  • Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. 
  • Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study. 
  • Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. 
  • Identification of six new susceptibility loci for invasive epithelial ovarian cancer. 
  • Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. 
  • Impact of limited population diversity of genome-wide association studies. 
  • Impact of measurement error on testing genetic association with quantitative traits. 
  • Impact of psychological stress on the associations between apolipoprotein E variants and metabolic traits: findings in an American sample of caregivers and controls. 
  • Independent evidence for an association between general cognitive ability and a genetic locus for educational attainment. 
  • Individual common variants exert weak effects on the risk for autism spectrum disorders. 
  • Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. 
  • Influence of TPH2 variants on diagnosis and response to treatment in patients with major depression, bipolar disorder and schizophrenia. 
  • Inherited variants in regulatory T cell genes and outcome of ovarian cancer. 
  • Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. 
  • Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 
  • Integrated genomic analyses in bronchopulmonary dysplasia. 
  • Integrated pathway and epistasis analysis reveals interactive effect of genetic variants at TERF1 and AFAP1L2 loci on melanoma risk. 
  • Integrating genetic and gene expression evidence into genome-wide association analysis of gene sets. 
  • Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel. 
  • Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. 
  • Integration of Population-Level Genotype Data with Functional Annotation Reveals Over-Representation of Long Noncoding RNAs at Ovarian Cancer Susceptibility Loci. 
  • Integration of cell line and clinical trial genome-wide analyses supports a polygenic architecture of Paclitaxel-induced sensory peripheral neuropathy. 
  • Integrative genomics reveals novel molecular pathways and gene networks for coronary artery disease. 
  • Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 
  • Is there a dose-dependent effect of genetic susceptibility loci for gastric cancer on prognosis of the patients? 
  • Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. 
  • Large meta-analysis of genome-wide association studies identifies five loci for lean body mass. 
  • Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. 
  • Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. 
  • Large-scale association analysis identifies new risk loci for coronary artery disease. 
  • Large-scale gene-centric analysis identifies novel variants for coronary artery disease. 
  • Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. 
  • Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability. 
  • Learning in glaucoma genetic risk assessment. 
  • Letter to the Editor: Posttraumatic stress disorder has genetic overlap with cardiometabolic traits. 
  • Letter to the editor: Standardization of genetic association studies, pros and cons, reaffirmed. 
  • Leveraging Prior Information to Detect Causal Variants via Multi-Variant Regression 
  • Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs. 
  • Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters. 
  • Linkage disequilibrium and signatures of positive selection around LINE-1 retrotransposons in the human genome. 
  • Linking a genome-wide association study signal to a LRRK2 coding variant in Parkinson's disease. 
  • Longer genotypically-estimated leukocyte telomere length is associated with increased adult glioma risk. 
  • Loss of Drosophila melanogaster p21-activated kinase 3 suppresses defects in synapse structure and function caused by spastin mutations. 
  • MMP20 and ARMS2/HTRA1 Are Associated with Neovascular Lesion Size in Age-Related Macular Degeneration. 
  • Major review: Molecular genetics of primary open-angle glaucoma. 
  • Mapping of the IRF8 gene identifies a 3'UTR variant associated with risk of chronic lymphocytic leukemia but not other common non-Hodgkin lymphoma subtypes. 
  • Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel. 
  • Merging pharmacometabolomics with pharmacogenomics using '1000 Genomes' single-nucleotide polymorphism imputation: selective serotonin reuptake inhibitor response pharmacogenomics. 
  • Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. 
  • Meta-analysis identifies common variants associated with body mass index in east Asians. 
  • Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. 
  • Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans. 
  • Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 
  • Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 
  • Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. 
  • Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium. 
  • Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder. 
  • Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. 
  • Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. 
  • Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. 
  • Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. 
  • Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes. 
  • Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. 
  • Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error. 
  • Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. 
  • Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 
  • Metabolomic profiling for the identification of novel biomarkers and mechanisms related to common cardiovascular diseases: form and function. 
  • Minocycline hepatotoxicity: Clinical characterization and identification of HLA-B∗35:02 as a risk factor. 
  • Missing genetic risk in neural tube defects: can exome sequencing yield an insight? 
  • Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy. 
  • Molecular genetic testing and the future of clinical genomics. 
  • Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018). 
  • Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI. 
  • Multiple chronic pain states are associated with a common amino acid-changing allele in KCNS1. 
  • Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. 
  • Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. 
  • Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. 
  • Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. 
  • Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. 
  • Natural genetic variation of integrin alpha L (Itgal) modulates ischemic brain injury in stroke. 
  • Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk. 
  • Network-based SNP meta-analysis identifies joint and disjoint genetic features across common human diseases. 
  • New insights into gestational glucose metabolism: lessons learned from 21st century approaches. 
  • New loci and coding variants confer risk for age-related macular degeneration in East Asians. 
  • Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. 
  • No association between Parkinson disease alleles and the risk of melanoma. 
  • Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis. 
  • Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 
  • Novel genetic loci associated with hippocampal volume. 
  • Novel genetic loci underlying human intracranial volume identified through genome-wide association. 
  • Novel genetic variants in the P38MAPK pathway gene ZAK and susceptibility to lung cancer. 
  • Novel loci and pathways significantly associated with longevity. 
  • Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study. 
  • Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. 
  • Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis. 
  • Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations. 
  • Open chromatin mapping identifies transcriptional networks regulating human epididymis epithelial function. 
  • PGC-1α, a potential therapeutic target for early intervention in Parkinson's disease. 
  • PICALM modulates autophagy activity and tau accumulation. 
  • Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. 
  • Pathogenic triad in COPD: oxidative stress, protease-antiprotease imbalance, and inflammation. 
  • Pathway-analysis of published genome-wide association studies of lung cancer: A potential role for the CYP4F3 locus. 
  • Pathways-driven sparse regression identifies pathways and genes associated with high-density lipoprotein cholesterol in two Asian cohorts. 
  • Personalized medicine and human genetic diversity. 
  • Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. 
  • Perspectives from the Avian Phylogenomics Project: Questions that Can Be Answered with Sequencing All Genomes of a Vertebrate Class. 
  • Pharmacogenetic Discovery in CALGB (Alliance) 90401 and Mechanistic Validation of a VAC14 Polymorphism that Increases Risk of Docetaxel-Induced Neuropathy. 
  • Pharmacogenomics for personalized pain medicine. 
  • PhenDisco: phenotype discovery system for the database of genotypes and phenotypes. 
  • Phenotyping clinical disorders: lessons learned from pelvic organ prolapse. 
  • Pleiotropic Associations of Allelic Variants in a 2q22 Region with Risks of Major Human Diseases and Mortality. 
  • Polygenic Risk, Appetite Traits, and Weight Gain in Middle Childhood: A Longitudinal Study. 
  • Polygenic risk and the development and course of asthma: an analysis of data from a four-decade longitudinal study. 
  • Polygenic risk predicts obesity in both white and black young adults. 
  • Polygenic risk, rapid childhood growth, and the development of obesity: evidence from a 4-decade longitudinal study. 
  • Polymorphism of the cystatin C gene in patients with acute coronary syndromes: Results from the PLATelet inhibition and patient Outcomes study. 
  • Polymorphisms identified through genome-wide association studies and their associations with type 2 diabetes in Chinese, Malays, and Asian-Indians in Singapore. 
  • Polymorphisms in HLA Class II Genes Are Associated With Susceptibility to Staphylococcus aureus Infection in a White Population. 
  • Polymorphisms in MicroRNAs are associated with survival in non-small cell lung cancer. 
  • Polymorphisms of nucleotide excision repair genes predict melanoma survival. 
  • Polymorphisms of the centrosomal gene (FGFR1OP) and lung cancer risk: a meta-analysis of 14,463 cases and 44,188 controls. 
  • Population genomics and the evolution of virulence in the fungal pathogen Cryptococcus neoformans. 
  • Potential of whole-genome sequencing for determining risk and personalizing therapy: focus on AML. 
  • Potentially functional variants of PLCE1 identified by GWASs contribute to gastric adenocarcinoma susceptibility in an eastern Chinese population. 
  • Power and sample size calculations for SNP association studies with censored time-to-event outcomes. 
  • Practical issues in imputation-based association mapping. 
  • Prediction of a time-to-event trait using genome wide SNP data. 
  • Predictors of consent to pharmacogenomics testing in the IDEAL study. 
  • Probing the role of PPARγ in the regulation of late-onset Alzheimer's disease-associated genes. 
  • Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. 
  • Random forests for genetic association studies. 
  • Randomized trial of personal genomics for preventive cardiology: design and challenges. 
  • Real-Time Genomic Profiling of Pancreatic Ductal Adenocarcinoma: Potential Actionability and Correlation with Clinical Phenotype. 
  • Relation of addiction genes to hypothalamic gene changes subserving genesis and gratification of a classic instinct, sodium appetite. 
  • Replication of 13 obesity loci among Singaporean Chinese, Malay and Asian-Indian populations. 
  • Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. 
  • Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach. 
  • Research capacity. Enabling the genomic revolution in Africa. 
  • Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci. 
  • Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. 
  • Robust analysis of secondary phenotypes in case-control genetic association studies. 
  • Robust regression analysis of copy number variation data based on a univariate score. 
  • Role of co-regulators in metabolic and transcriptional actions of thyroid hormone. 
  • Role of common genetic variants in ovarian cancer susceptibility and outcome: progress to date from the Ovarian Cancer Association Consortium (OCAC). 
  • SLC1A2 variant associated with essential tremor but not Parkinson disease in Chinese subjects. 
  • SNP-skimming: A fast approach to map loci generating quantitative variation in natural populations. 
  • SNPpy--database management for SNP data from genome wide association studies. 
  • SNPs in CAST are associated with Parkinson disease: a confirmation study. 
  • SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. 
  • Sample size considerations of prediction-validation methods in high-dimensional data for survival outcomes. 
  • Screening for familial and hereditary prostate cancer. 
  • Secrets of the perioptome: new tools for a new concept. 
  • Semiparametric Bayesian modeling of random genetic effects in family-based association studies. 
  • Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. 
  • Serotonin functioning and adolescents' alcohol use: A genetically informed study examining mechanisms of risk. 
  • Seven new loci associated with age-related macular degeneration. 
  • Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. 
  • Shared heritability and functional enrichment across six solid cancers. 
  • Shrinkage estimation for robust and efficient screening of single-SNP association from case-control genome-wide association studies. 
  • Sickle cell disease and H3Africa: enhancing genomic research on cardiovascular diseases in African patients. 
  • Single Nucleotide Polymorphism Heritability of a General Psychopathology Factor in Children. 
  • Somatic Mutation Allelic Ratio Test Using ddPCR (SMART-ddPCR): An Accurate Method for Assessment of Preferential Allelic Imbalance in Tumor DNA. 
  • Sporadic, Global Linkage Disequilibrium Between Unlinked Segregating Sites. 
  • Steroid-induced ocular hypertension/glaucoma: Focus on pharmacogenomics and implications for precision medicine. 
  • Stratification-score matching improves correction for confounding by population stratification in case-control association studies. 
  • Strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS): explanation and elaboration. 
  • Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration. 
  • Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration. 
  • Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing. 
  • Summarizing polygenic risks for complex diseases in a clinical whole-genome report. 
  • Susceptibility loci of CNOT6 in the general mRNA degradation pathway and lung cancer risk-A re-analysis of eight GWASs. 
  • Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease. 
  • Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration. 
  • Systematic assessment of imputation performance using the 1000 Genomes reference panels. 
  • Systems Genetics Analysis of Genome-Wide Association Study Reveals Novel Associations Between Key Biological Processes and Coronary Artery Disease. 
  • Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility. 
  • T (brachyury) gene duplication confers major susceptibility to familial chordoma. 
  • TNXB mutations can cause vesicoureteral reflux. 
  • TSPAN5, ERICH3 and selective serotonin reuptake inhibitors in major depressive disorder: pharmacometabolomics-informed pharmacogenomics. 
  • Telomere structure and maintenance gene variants and risk of five cancer types. 
  • Testicular cancer survivorship: research strategies and recommendations. 
  • Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets. 
  • The 1p13.3 LDL (C)-associated locus shows large effect sizes in young populations. 
  • The Genetics of Success: How Single-Nucleotide Polymorphisms Associated With Educational Attainment Relate to Life-Course Development. 
  • The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables. 
  • The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers. 
  • The Psychiatric Genomics Consortium Posttraumatic Stress Disorder Workgroup: Posttraumatic Stress Disorder Enters the Age of Large-Scale Genomic Collaboration. 
  • The SSV Evaluation System: A Tool to Prioritize Short Structural Variants for Studies of Possible Regulatory and Causal Variants. 
  • The Singapore flagship programme in translational and clinical research in psychosis. 
  • The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study. 
  • The continuum of causality in human genetic disorders. 
  • The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. 
  • The future of cardiothoracic anesthesia. 
  • The genetic architecture of type 2 diabetes. 
  • The genetic regulatory signature of type 2 diabetes in human skeletal muscle. 
  • The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. 
  • The genetics of neuropsychiatric diseases: looking in and beyond the exome. 
  • The role of the transcription factor ETV5 in insulin exocytosis. 
  • The social genome of friends and schoolmates in the National Longitudinal Study of Adolescent to Adult Health. 
  • The state of genome-wide association studies in pulmonary disease: a new perspective. 
  • The vitamin D receptor gene as a determinant of survival in pancreatic cancer patients: Genomic analysis and experimental validation. 
  • Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. 
  • Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained. 
  • Transcriptional profiling of human placentas from pregnancies complicated by preeclampsia reveals disregulation of sialic acid acetylesterase and immune signalling pathways. 
  • Transethnic genome-wide scan identifies novel Alzheimer's disease loci. 
  • Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. 
  • Translational Bioinformatics: Past, Present, and Future. 
  • Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis. 
  • Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 
  • Understanding human variation in infectious disease susceptibility through clinical and cellular GWAS. 
  • Understanding the genetics of APOE and TOMM40 and role of mitochondrial structure and function in clinical pharmacology of Alzheimer's disease. 
  • Up For A Challenge (U4C): Stimulating innovation in breast cancer genetic epidemiology. 
  • Use of pathway information in molecular epidemiology. 
  • Validating the meta-analytical results on MDM2, CASP8, XRCC3 polymorphisms and breast cancer risk: examination of Hardy-Weinberg Equilibrium. 
  • Validation of genome-wide prostate cancer associations in men of African descent. 
  • Validation of prostate cancer risk-related loci identified from genome-wide association studies using family-based association analysis: evidence from the International Consortium for Prostate Cancer Genetics (ICPCG). 
  • Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking. 
  • Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk. 
  • Variation at 8q24 and 9p24 and risk of epithelial ovarian cancer. 
  • Variation in human recombination rates and its genetic determinants. 
  • Variation within DNA repair pathway genes and risk of multiple sclerosis. 
  • Vitamin D receptor gene as a candidate gene for Parkinson disease. 
  • Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. 
  • Whole-Genome and Epigenomic Landscapes of Etiologically Distinct Subtypes of Cholangiocarcinoma. 
  • Whole-exome sequencing of a pedigree segregating asthma. 
  • rqt: an R package for gene-level meta-analysis. 
• 

  Keywords of People

  • Berchuck, Andrew, James M. Ingram Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Ciofani, Maria, Assistant Professor of Immunology, Immunology
  • Hartemink, Alexander J., Professor in the Department of Computer Science, Biology
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • McLendon, Roger Edwin, Professor of Pathology, Pathology
  • Mitchell-Olds, Thomas, Newman Ivey White Professor of Biology in Trinity College of Arts and Sciences, Biology
  • Moorman, Patricia Gripka, Professor in Community and Family Medicine, Duke Cancer Institute
  • Ochoa, Alejandro, Assistant Professor of Biostatistics & Bioinformatics, Biostatistics & Bioinformatics
  • Reddy, Timothy E, Associate Professor of Biostatistics & Bioinformatics, Molecular Genetics and Microbiology
  • Wray, Gregory Allan, Professor of Biology, Duke Innovation & Entrepreneurship
  • Yan, Hai, Henry S. Friedman Professor of Neuro-Oncology in the School of Medicine, Pathology