The pursuit of genome-wide association studies: where are we now?

No abstract is available for this paper.

• Publication year

  2010

• Venue

  Journal of Human Genetics

• Publication date

  2010-04-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/jhg.2010.19PMID 20300123
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• A genome-wide association study identifies alleles in FGFR 2 associated with risk of sporadic postmenopausal breast cancer

  2012cited by this paper
• Tandem repeat polymorphisms: modulators of disease susceptibility and candidates for 'missing heritability'.

  2010cited by this paper
• Origins and functional impact of copy number variation in the human genome

  2010cited by this paper
• Genetic variation in LIN28B is associated with the timing of puberty

  2009cited by this paper
• Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease, and shows evidence for additional susceptibility genes

  2009cited by this paper
• Genotype imputation.

  2009cited by this paper
• Genetic risk prediction--are we there yet?

  2009cited by this paper
• Genome-wide association study identifies three loci associated with melanoma risk

  2009cited by this paper
• The genetics of chronic inflammatory diseases.

  2009cited by this paper
• Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer

  2009cited by this paper
• Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci

  2009cited by this paper
• Single-molecule sequencing of an individual human genome

  2009cited by this paper
• Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

  2009cited by this paper
• Meta-Analysis of the INSIG2 Association with Obesity Including 74,345 Individuals: Does Heterogeneity of Estimates Relate to Study Design?

  2009cited by this paper
• Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

  2009cited by this paper
• A highly annotated whole-genome sequence of a Korean individual

  2009cited by this paper
• Common variants on chromosome 6p22.1 are associated with schizophrenia

  2009cited by this paper
• Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility

  2009cited by this paper
• New common variants affecting susceptibility to basal cell carcinoma

  2009cited by this paper
• A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1)

  2009cited by this paper
• Validating, augmenting and refining genome-wide association signals

  2009cited by this paper
• The 8q24 cancer risk variant rs6983267 demonstrates long-range interaction with MYC in colorectal cancer

  2009cited by this paper
• Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche

  2009cited by this paper
• Mapping complex disease traits with global gene expression

  2009cited by this paper
• Recent progress in rheumatoid arthritis genetics: one step towards improved patient care

  2009cited by this paper
• Genome-wide association study identifies a novel breast cancer susceptibility locus at 6q25.1

  2009cited by this paper
• Corrigendum: Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer

  2009cited by this paper
• Segmental copy number variation shapes tissue transcriptomes

  2009cited by this paper
• Common vs. rare allele hypotheses for complex diseases.

  2009cited by this paper
• A genome-wide association study of testicular germ cell tumor

  2009cited by this paper
• Meta-analysis in genome-wide association studies.

  2009cited by this paper
• Common genetic variation and human traits.

  2009cited by this paper
• Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

  2009cited by this paper
• The impact of copy number variation on local gene expression in mouse hematopoietic stem/progenitor cells

  2009cited by this paper
• Human genetic variation and its contribution to complex traits

  2009cited by this paper
• A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population

  2009cited by this paper
• Common variants at five new loci associated with early-onset inflammatory bowel disease

  2009cited by this paper
• Common variants at ten loci influence myocardial repolarization: the QTGEN consortium

  2009cited by this paper
• Detecting shared pathogenesis from the shared genetics of immune-related diseases

  2009cited by this paper
• Common variants at ten loci modulate the QT interval duration in the QTSCD Study

  2009cited by this paper
• The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling

  2009cited by this paper
• Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

  2009cited by this paper
• Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes

  2009cited by this paper
• Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer

  2009cited by this paper
• Loci at chromosomes 13, 19 and 20 influence age at natural menopause

  2009cited by this paper
• Genomewide association studies--illuminating biologic pathways.

  2009cited by this paper
• Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

  2009cited by this paper
• Review of recent genome‐wide association scans in lupus

  2009cited by this paper
• Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

  2009cited by this paper
• GWA studies: rewriting the story of IBD.

  2009cited by this paper
• Genomic copy number variation, human health, and disease.

  2009cited by this paper
• Genome-wide association studies identify novel loci associated with age at menarche and age at natural menopause

  2009cited by this paper
• Meta-analysis of genome-wide association data identifies two loci influencing age at menarche

  2009cited by this paper
• Meta-analysis of the association of the HTRA1 polymorphisms with the risk of age-related macular degeneration.

  2009cited by this paper
• Genome-wide association study and meta-analysis finds over 40 loci affect risk of type 1 diabetes

  2009cited by this paper
• Schizophrenia genetics: advancing on two fronts.

  2009cited by this paper
• The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group.

  2009cited by this paper
• Letter abstract - Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's Disease

  2009cited by this paper
• Common variants conferring risk of schizophrenia

  2009cited by this paper
• Finding the missing heritability of complex diseases

  2009cited by this paper
• Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21

  2009cited by this paper
• Genome-wide association study identifies five susceptibility loci for glioma

  2009cited by this paper
• Identification of seven new prostate cancer susceptibility loci through a genome-wide association study

  2009cited by this paper
• Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus

  2009cited by this paper
• Genotyping technologies for genetic research.

  2009cited by this paper
• Rare Variants of IFIH 1 , a Gene Implicated in Antiviral Responses , Protect Against Type 1 Diabetes

  2009cited by this paper
• Genetic Variants Associated with Complex Human Diseases Show Wide Variation across Multiple Populations

  2009cited by this paper
• Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease

  2009cited by this paper
• A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25

  2008cited by this paper
• Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

  2008cited by this paper
• Common variants at CD40 and other loci confer risk of rheumatoid arthritis

  2008cited by this paper
• Psoriasis is associated with increased beta-defensin genomic copy number.

  2008cited by this paper
• Genomewide Scan Reveals Association of Psoriasis with IL-23 and NF-κB Pathways

  2008cited by this paper
• Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

  2008cited by this paper
• Autoimmune diseases: insights from genome-wide association studies.

  2008cited by this paper
• Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer

  2008cited by this paper
• Evaluation of coverage variation of SNP chips for genome-wide association studies

  2008cited by this paper
• The case of the missing heritability

  2008cited by this paper
• Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1

  2008cited by this paper
• A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

  2008cited by this paper
• Multiple loci identified in a genome-wide association study of prostate cancer

  2008cited by this paper
• The Wellcome Trust Case Control Consortium, U.K.

  2008cited by this paper
• Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci

  2008cited by this paper
• Psoriasis is associated with increased β-defensin genomic copy number

  2008cited by this paper
• The Genetics of Type 2 Diabetes: A Realistic Appraisal in 2008

  2008cited by this paper
• New links to the pathogenesis of Crohn disease provided by genome-wide association scans

  2008cited by this paper
• 1000 Genomes Project promises closer look at variation in human genome.

  2008cited by this paper
• Genomics: When the smoke clears ...

  2008cited by this paper
• Ulcerative colitis loci on chromosomes 1p36 and 12q15 identified by genome-wide association study

  2008cited by this paper
• Polygenes, risk prediction, and targeted prevention of breast cancer.

  2008cited by this paper
• Cumulative association of five genetic variants with prostate cancer.

  2008cited by this paper
• Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.

  2008cited by this paper
• Common 5p15.33 and 6p21.33 variants influence lung cancer risk

  2008cited by this paper
• SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations

  2008cited by this paper
• Multiple newly identified loci associated with prostate cancer susceptibility

  2008cited by this paper
• Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

  2008cited by this paper
• The genetics and immunopathogenesis of inflammatory bowel disease

  2008cited by this paper
• The genetics of multiple sclerosis: SNPs to pathways to pathogenesis

  2008cited by this paper
• Integrated detection and population-genetic analysis of SNPs and copy number variation

  2008cited by this paper
• Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer

  2008cited by this paper

• Establishing the relationship between brain cellular senescence and brain structure.

  2026cites this paper
• SMECT: a framework for benchmarking post-GWAS methods for spatial mapping of cells associated with human complex traits

  2026cites this paper
• A deep ensemble encoder network method for improved polygenic risk score prediction

  2026cites this paper
• Genetics of Sudden Cardiac Arrest: Overview of Genetic Risk Factors and Aetiologies

  2025cites this paper
• Novel ABCD1 and MTHFSD Variants in Taiwanese Bipolar Disorder: A Genetic Association Study

  2025cites this paper
• Genomics-driven drug repurposing and novel targets identification for sickle cell disease in Saudi patients

  2025cites this paper
• Genome-Wide Association Study as an Efficacious Approach to Discover Candidate Genes Associated with Body Linear Type Traits in Dairy Cattle

  2024cites this paper
• A Deep Ensemble Encoder Network Method for Improved Polygenic Risk Score Prediction

  2024cites this paper
• Exploring the Research Landscape of High Myopia: Trends, Contributors, and Key Areas of Focus

  2023cites this paper
• Multivariate and Gene-Based Association Testing of Sarcopenia: Bushehr Elderly Health Program (BEH)

  2022cites this paper
• 34 Chagas Heart Disease

  2022cites this paper
• Association of Fetuin-A with Thr256Ser exon polymorphism of α2-Heremans Schmid Glycoprotein (AHSG) gene in type 2 diabetic patients with overt nephropathy.

  2021cites this paper
• Milestones in Aetiology of Developmental Dyslexia

  2021cites this paper
• Consortium for Refractive Error and Myopia (CREAM): Vision, Mission, and Accomplishments

  2021cites this paper
• Genome-wide association study and functional analyses for clinical and subclinical ketosis in Holstein cattle.

  2021cites this paper
• Excessive Laughter-like Vocalizations, Microcephaly, and Translational Outcomes in the Ube3a Deletion Rat Model of Angelman Syndrome

  2021cites this paper
• Updates on Myopia: A Clinical Perspective

  2020influential citation
• Genetic variability in postoperative nausea and vomiting

  2020cites this paper
• Identification, deployment, and transferability of quantitative trait loci from genome-wide association studies in plants

  2020cites this paper
• Protein interaction networks define the genetic architecture of preterm birth

  2020cites this paper
• Association Mapping Based on a Common-Garden Migration Experiment Reveals Candidate Genes for Migration Tendency in Brown Trout

  2019cites this paper
• Comparison of methods for multivariate gene-based association tests for complex diseases using common variants

  2019cites this paper
• PAS-SNP: iOS App with GWAS SNP-Disease Database for Personalized Genomics Research: PAS-SNP for GWAS SNP-Disease

  2019cites this paper
• Genotype–phenotype correlation and interaction of 4q25, 15q14 and MIPEP variants with myopia in southern Chinese population

  2019cites this paper
• IMI – Myopia Genetics Report

  2019cites this paper
• Proteinarium: Multi-Sample Protein-Protein Interaction Analysis and Visualization Tool

  2019cites this paper
• The Genetics of Myopia

  2019cites this paper
• Association of STAT3 and STAT4 polymorphisms with susceptibility to chronic hepatitis B virus infection and risk of hepatocellular carcinoma: a meta-analysis

  2019cites this paper
• High-resolution melting curve analysis of polymorphisms within CD58, CD226, HLA-G genes and association with multiple sclerosis susceptibility in a subset of Iranian population: a case–control study

  2018cites this paper
• Single Nucleotide Polymorphism in SMAD7 and CHI3L1 and Colorectal Cancer Risk

  2018cites this paper
• Increased levels of circulating (TNF-α) is associated with (-308G/A) promoter polymorphism of TNF-α gene in Diabetic Nephropathy.

  2018cites this paper
• Genomics: New Light on Alzheimer’s Disease Research

  2018influential citation
• Fall 11-18-2017 Teaching for Epidemiological Literacy : Description , Prescription , and Critical Thinking

  2018cites this paper
• Critical epidemiological literacy: understanding ideas better when placed in relation to alternatives

  2018cites this paper
• The molecular genetics of hand preference revisited

  2018cites this paper
• Penalized mixed-effects ordinal response models for high-dimensional genomic data in twins and families

  2018cites this paper
• Relevance of genetic relationship in GWAS and genomic prediction

  2018cites this paper
• Age-Related Hearing Loss.

  2018cites this paper
• In vivo systems biology approaches to chronic immune/inflammatory pathophysiology.

  2018cites this paper
• A pharmacognostic and pharmacological review on Vigna aconitifolia (Moth bean)

  2018cites this paper
• Gene regulation and the emergence of phenotypes – a network approach

  2018cites this paper
• Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia

  2018cites this paper
• Genome-wide association studies and clinical outcome in ovarian cancer patients: validation in an independent cohort

  2017cites this paper
• Associations between CRYBA4 gene variants and high myopia in a Japanese population

  2017cites this paper
• Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies

  2017cites this paper
• Association of A1538G and C2437T single nucleotide polymorphisms in heat shock protein-70 genes with diabetic nephropathy among South Indian population

  2017cites this paper
• Towards precision prevention: Technologies for identifying healthy individuals with high risk of disease.

  2017cites this paper
• Increasing the Discovery Power and Confidence Levels of Disease Association Studies: A Survey

  2017cites this paper
• Genome-wide association study: new genetic insights into HBV/HCV-related hepatocellular carcinoma genomes

  2017cites this paper
• Gene co-expression network connectivity is an important determinant of selective constraint

  2017cites this paper
• In silico analysis of the inhibitory activities of GABA derivatives on 4-aminobutyrate transaminase

  2017cites this paper
• Exploration of genetic contributions to body composition and their role in metabolic health

  2017cites this paper
• Genomewide association mapping and pathway analysis of meat tenderness in Polled Nellore cattle.

  2017cites this paper
• Reflections on "Hot" Blind Spots: Lessons from Research on Aging Macula Disorder and Glaucoma

  2017cites this paper
• Rethinking ovarian cancer genomics: where genome-wide association studies stand?

  2017cites this paper
• Osteosarcoma inheritance in two families of Scottish deerhounds

  2017cites this paper
• Metabolic pathways in the periphery and brain: Contribution to mental disorders?

  2016cites this paper
• Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants

  2016cites this paper
• Genomic Test Results and the Courtroom: The Roles of Experts and Expert Testimony

  2016cites this paper
• A Clustered Multiclass Likelihood‐Ratio Ensemble Method for Family‐Based Association Analysis Accounting for Phenotypic Heterogeneity

  2016cites this paper
• New Genome-Wide Methods for Elucidation of Candidate Copy Number Variations (CNVs) Contributing to Alzheimer's Disease Heritability.

  2016cites this paper
• The genetics of susceptibility to tuberculosis: Progress and challenges

  2016cites this paper
• Application of kappa statistics in sequential tests for family-based design

  2016cites this paper
• Purifying selection provides buffering of the natural variation co-expression network in a forest tree species

  2016cites this paper
• Research progress of neuroblastoma related gene variations

  2016cites this paper
• Family-based investigation of the genetics and epigenetics of obesity in Qatar

  2015cites this paper
• Comparative oncology: what dogs and other species can teach us about humans with cancer

  2015cites this paper
• Applications of systems approaches in the study of rheumatic diseases

  2015cites this paper
• ConPADE: Genome Assembly Ploidy Estimation from Next-Generation Sequencing Data

  2015cites this paper
• Study of the transcriptional regulation of α-synuclein

  2015cites this paper
• Breaking the code: Statistical methods and methodological issues in psychiatric genetics

  2015cites this paper
• LOODUS- JA TEHNOLOOGIATEADUSKOND MOLEKULAAR- JA RAKUBIOLOOGIA INSTITUUT

  2015cites this paper
• 50 whys to look for genes: Pros and complications

  2015cites this paper
• The Genomic Load of Deleterious Mutations: Relevance to Death in Infancy and Childhood

  2015cites this paper
• Association of a common genetic variant within ANKK1 with six-month cognitive performance after traumatic brain injury

  2015cites this paper
• The FTLD risk factor TMEM106B controls lysosomal trafficking and dendrite outgrowth

  2015cites this paper
• Generation of Hypertension-Associated STK39 Polymorphism Knockin Cell Lines With the Clustered Regularly Interspaced Short Palindromic Repeats/Cas9 System

  2015cites this paper
• Advances in genetics and genomics: use and limitations in achieving malaria elimination goals

  2015cites this paper
• Opportunity for selection in human health.

  2014cites this paper
• Increasing the Discovery Power and Condence Levels of Disease Association Studies: A Survey

  2014cites this paper
• Comprehensive Identification of Single Nucleotide Polymorphisms Associated with Beta-lactam Resistance within Pneumococcal Mosaic Genes

  2014cites this paper
• Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

  2014cites this paper
• N‐cadherin promoter polymorphisms and risk of osteoarthritis

  2014cites this paper
• The Evolution and Adaptive Potential of Transcriptional Variation in Sticklebacks—Signatures of Selection and Widespread Heritability

  2014cites this paper
• Testing Gene–Gene Interactions in Genome Wide Association Studies

  2014cites this paper
• The contribution of genetic and environmental factors to the duration of pregnancy.

  2014cites this paper
• Analyse d'un grand jeu de données en épidémiologie : problématiques et perspectives méthodologiques

  2014cites this paper
• Discussing race-related limitations of genomic testing for colon cancer risk: implications for education and counseling.

  2014cites this paper
• Fast Genome‐Wide QTL Association Mapping on Pedigree and Population Data

  2014cites this paper
• Practical Secure Two-Party Computation : Techniques , Tools , and Applications

  2014cites this paper
• Cis-regulatory variation: significance in biomedicine and evolution

  2014cites this paper
• Next Generation Statistical Genetics: Modeling, Penalization, and Optimization in High-Dimensional Data.

  2014cites this paper
• Pathways to dementia: genetic predictors of cognitive and brain imaging endophenotypes in Alzheimer's disease

  2014cites this paper
• Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients

  2013cites this paper
• Whole genome sequencing in support of wellness and health maintenance

  2013cites this paper
• Update on Temporal Lobe Epilepsy

  2013cites this paper
• Sherlock: detecting gene-disease associations by matching patterns of expression QTL and GWAS.

  2013cites this paper
• Pathways to neurodegeneration: mechanistic insights from GWAS in Alzheimer's disease, Parkinson's disease, and related disorders.

  2013influential citation
• Nine‐spined stickleback (Pungitius pungitius): an emerging model for evolutionary biology research

  2013cites this paper
• Genome-wide association study of serum albumin:globulin ratio in Korean populations

  2013cites this paper