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 Genetic Response Score for Hydrochlorothiazide Use: Insights From Genomics and Metabolomics Integration. 
  • 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 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 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 genome-wide Drosophila screen for heat nociception identifies α2δ3 as an evolutionarily conserved pain gene. 
  • A genome-wide analysis of open chromatin in human tracheal epithelial cells reveals novel candidate regulatory elements for lung function. 
  • 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 identifies a new ovarian cancer susceptibility locus on 9p22.2. 
  • 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 implicates the APOE locus in nonpathological cognitive ageing. 
  • A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. 
  • A genome-wide association study of central corneal thickness in Latinos. 
  • 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 total bilirubin and cholelithiasis risk in sickle cell anemia. 
  • A genome-wide association study of variants associated with acquisition of Staphylococcus aureus bacteremia in a healthcare setting. 
  • A genome-wide comparison of the functional properties of rare and common genetic variants in humans. 
  • 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 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 new locus for familial FSGS on chromosome 2p. 
  • 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 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 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. 
  • 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. 
  • African Ancestry Analysis and Admixture Genetic Mapping for Proliferative Diabetic Retinopathy in African Americans. 
  • African-derived genetic polymorphisms in TNFAIP3 mediate risk for autoimmunity. 
  • 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 application of Random Forests to a genome-wide association dataset: methodological considerations & new findings. 
  • 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 Genetic and Non-Genetic Factors Influencing Timing and Time Perception. 
  • Anti-VEGF treatment-resistant pancreatic cancers secrete proinflammatory factors that contribute to malignant progression by inducing an EMT cell phenotype. 
  • 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 invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study. 
  • 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 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 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. 
  • Associations between APOE variants and metabolic traits and the impact of psychological stress. 
  • Assortative mating and differential fertility by phenotype and genotype across the 20th century. 
  • Beyond QTL cloning. 
  • Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis. 
  • 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. 
  • CELF4 Variant and Anthracycline-Related Cardiomyopathy: A Children's Oncology Group Genome-Wide Association Study. 
  • 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. 
  • Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe). 
  • 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. 
  • 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 variants associated with resting oxygenation in chronic obstructive pulmonary disease. 
  • 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 variation and human traits. 
  • 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 conferring risk of schizophrenia. 
  • Common variants near ABCA1 and in PMM2 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. 
  • 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. 
  • 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-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. 
  • 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. 
  • Development and evaluation of a genetic risk score for obesity. 
  • Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma. 
  • Discovery and refinement of loci associated with lipid levels. 
  • 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. 
  • Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies. 
  • Effect of genetic variations on ticagrelor plasma levels and clinical outcomes. 
  • Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. 
  • 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. 
  • 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 transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations. 
  • 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 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. 
  • 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. 
  • Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster. 
  • 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 genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. 
  • Functional impact of global rare copy number variation in autism spectrum disorders. 
  • Functional modules, mutational load and human genetic disease. 
  • GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos. 
  • GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. 
  • 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. 
  • Genes and environment in neonatal intraventricular hemorrhage. 
  • Genetic Influences on Plasma Homocysteine Levels in African Americans and Yoruba Nigerians. 
  • Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. 
  • Genetic and environmental correlates of topiramate-induced cognitive impairment. 
  • 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 contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models. 
  • Genetic contributions to urgency urinary incontinence in women. 
  • 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 effects in the leukotriene biosynthesis pathway and association with atherosclerosis. 
  • 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 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 susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. 
  • Genetic susceptibility variants for chronic lymphocytic leukemia. 
  • 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 novel pathways influence blood pressure and cardiovascular disease risk. 
  • Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. 
  • 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 and spontaneous clearance of hepatitis C virus. 
  • 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 P2X7 receptor pore formation regulates variability in chronic pain sensitivity. 
  • Genetics and epigenetics in perioperative medicine. 
  • Genome-Wide Association Study Meta-Analysis of Long-Term Average Blood Pressure in East Asians. 
  • 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 multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. 
  • 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 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 polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. 
  • 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 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 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 ZFHX1B as a susceptibility locus for severe myopia. 
  • 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 multiple risk loci for chronic lymphocytic leukemia. 
  • Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. 
  • Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. 
  • 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 acute kidney injury after coronary bypass graft surgery identifies susceptibility loci. 
  • Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway. 
  • 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 interferon-related cytopenia in chronic hepatitis C patients. 
  • 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 retinopathy in individuals without diabetes. 
  • 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 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 on progression of carotid artery intima media thickness over 10 years in a Chinese cohort. 
  • 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 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 mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals. 
  • Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke. 
  • Genome-wide scan of copy number variation in late-onset Alzheimer's disease. 
  • Genome-wide significant risk associations for mucinous ovarian carcinoma. 
  • 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. 
  • Genomic landscapes of breast fibroepithelial tumors. 
  • Genomics of human health and aging. 
  • Getting biological about the genetics of diabetes. 
  • Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci. 
  • Growth of genome screening needs debate. 
  • HDMX regulates p53 activity and confers chemoresistance to 3-bis(2-chloroethyl)-1-nitrosourea. 
  • 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. 
  • 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. 
  • Host determinants of HIV-1 control in African Americans. 
  • Host genetics of HIV acquisition and viral control. 
  • How genes influence life span: the biodemography of human survival. 
  • 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 new susceptibility loci for IgA nephropathy in Han Chinese. 
  • Identification of six new susceptibility loci for invasive epithelial ovarian cancer. 
  • 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 genetic and genomic approach in the SingaporeTranslational and Clinical Research in Psychosis Study: an overview. 
  • Integrated genomic analyses in bronchopulmonary dysplasia. 
  • 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 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. 
  • Large-scale association analysis identifies new risk loci for coronary artery disease. 
  • Learning in glaucoma genetic risk assessment. 
  • Letter to the editor: Standardization of genetic association studies, pros and cons, reaffirmed. 
  • Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs. 
  • 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. 
  • 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-analysis identifies common variants associated with body mass index in east Asians. 
  • 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 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 novel loci that influence cupping and the glaucomatous process. 
  • 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. 
  • 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. 
  • 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 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. 
  • 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. 
  • Next generation disparities in human genomics: concerns and remedies. 
  • Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis. 
  • 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. 
  • Pathogenic triad in COPD: oxidative stress, protease-antiprotease imbalance, and inflammation. 
  • 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. 
  • Pharmacogenomics for personalized pain medicine. 
  • 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 of the centrosomal gene (FGFR1OP) and lung cancer risk: a meta-analysis of 14,463 cases and 44,188 controls. 
  • Power and sample size calculations for SNP association studies with censored time-to-event outcomes. 
  • Prediction of a time-to-event trait using genome wide SNP data. 
  • Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium. 
  • Random forests for genetic association studies. 
  • Randomized trial of personal genomics for preventive cardiology: design and challenges. 
  • Rare variants create synthetic genome-wide associations. 
  • 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. 
  • Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. 
  • Robust regression analysis of copy number variation data based on a univariate score. 
  • 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. 
  • SNPpy--database management for SNP data from genome wide association studies. 
  • SNPs in CAST are associated with Parkinson disease: a confirmation study. 
  • Sample size considerations of prediction-validation methods in high-dimensional data for survival outcomes. 
  • Schizophrenia genetics comes of age. 
  • Screening for familial and hereditary prostate cancer. 
  • Secrets of the perioptome: new tools for a new concept. 
  • Seven new loci associated with age-related macular degeneration. 
  • Sickle cell disease and H3Africa: enhancing genomic research on cardiovascular diseases in African patients. 
  • Sporadic, Global Linkage Disequilibrium Between Unlinked Segregating Sites. 
  • Steroid-induced ocular hypertension/glaucoma: Focus on pharmacogenomics and implications for precision medicine. 
  • 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. 
  • 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. 
  • TNXB mutations can cause vesicoureteral reflux. 
  • Telomere structure and maintenance gene variants and risk of five cancer types. 
  • Testicular cancer survivorship: research strategies and recommendations. 
  • 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 Psychiatric Genomics Consortium Posttraumatic Stress Disorder Workgroup: Posttraumatic Stress Disorder Enters the Age of Large-Scale Genomic Collaboration. 
  • The continuum of causality in human genetic disorders. 
  • The future of cardiothoracic anesthesia. 
  • The genetic architecture of type 2 diabetes. 
  • 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 importance of synthetic associations will only be resolved empirically. 
  • The role of the transcription factor ETV5 in insulin exocytosis. 
  • The state of genome-wide association studies in pulmonary disease: a new perspective. 
  • 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. 
  • Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. 
  • Translational Bioinformatics: Past, Present, and Future. 
  • Uncovering the roles of rare variants in common disease through whole-genome sequencing. 
  • Understanding human variation in infectious disease susceptibility through clinical and cellular GWAS. 
  • Use of pathway information in molecular epidemiology. 
  • Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking. 
  • Variation at 8q24 and 9p24 and risk of epithelial ovarian cancer. 
  • Variation within DNA repair pathway genes and risk of multiple sclerosis. 
  • Vitamin D receptor gene as a candidate gene for Parkinson disease. 
  • Whole genome association studies in complex diseases: where do we stand? 
  • Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. 
  • Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. 
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  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, Computer Science
  • 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
  • Reddy, Timothy E, Assistant Professor of Biostatistics & Bioinformatics, Biomedical Engineering
  • Wray, Gregory Allan, Professor of Biology, Evolutionary Anthropology
  • Yan, Hai, Henry S. Friedman Professor of Neuro-Oncology in the School of Medicine, Pathology