Benefits and limitations of genome-wide association studies

Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways

(2019) Philip R. Jansen et al.   NATURE GENETICS

The Post-GWAS Era: From Association to Function

(2018) Michael D. Gallagher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genotype Imputation from Large Reference Panels

(2018) Sayantan Das et al.   Annual Review of Genomics and Human Genetics

Common Disease Is More Complex Than Implied by the Core Gene Omnigenic Model

(2018) Naomi R. Wray et al.   CELL

The case of GWAS of obesity: does body weight control play by the rules?

(2018) Manfred J. Müller et al.   INTERNATIONAL JOURNAL OF OBESITY

Fine-mapping of 98 obesity loci in Mexican children

(2018) Hsin Yen Liu et al.   INTERNATIONAL JOURNAL OF OBESITY

GWAS for BMI: a treasure trove of fundamental insights into the genetic basis of obesity

(2018) J. R. Speakman et al.   INTERNATIONAL JOURNAL OF OBESITY

Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways

(2018) Mats Nagel et al.   NATURE GENETICS

Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes

(2018) Niels Grarup et al.   NATURE GENETICS

Loss-of-function mutations in ADCY3 cause monogenic severe obesity

(2018) Sadia Saeed et al.   NATURE GENETICS

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

(2018) Anubha Mahajan et al.   NATURE GENETICS

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

(2018) James J. Lee et al.   NATURE GENETICS

MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency

(2018) Karine Clément et al.   NATURE MEDICINE

The personal and clinical utility of polygenic risk scores

(2018) Ali Torkamani et al.   NATURE REVIEWS GENETICS

From genome-wide associations to candidate causal variants by statistical fine-mapping

(2018) Daniel J. Schaid et al.   NATURE REVIEWS GENETICS

Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci

(2018) Matthias Thurner et al.   eLife

Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry

(2018) Loic Yengo et al.   HUMAN MOLECULAR GENETICS

Estimation of complex effect-size distributions using summary-level statistics from genome-wide association studies across 32 complex traits

(2018) Yan Zhang et al.   NATURE GENETICS

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes

(2018) Angli Xue et al.   Nature Communications

Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors

(2018) Luca A. Lotta et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Integrating behavioural health tracking in human genetics research

(2018) Nelson B. Freimer et al.   NATURE REVIEWS GENETICS

Established and emerging strategies to crack the genetic code of obesity

(2018) V. Tam et al.   Obesity Reviews

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel

(2017) Mario Mitt et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Benchmarking Relatedness Inference Methods with Genome-Wide Data from Thousands of Relatives

(2017) Monica D. Ramstetter et al.   GENETICS

Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution

(2017) Reedik Mägi et al.   HUMAN MOLECULAR GENETICS

Rare and low-frequency coding variants alter human adult height

(2017) Eirini Marouli et al.   NATURE

Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia

(2017) Zhiqiang Li et al.   NATURE GENETICS

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

(2017) Valérie Turcot et al.   NATURE GENETICS

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

(2017) Roger L Milne et al.   NATURE GENETICS

Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease

(2017) Wei Zhao et al.   NATURE GENETICS

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease

(2017) Katrina M de Lange et al.   NATURE GENETICS

Reevaluation of SNP heritability in complex human traits

(2017) Doug Speed et al.   NATURE GENETICS

Genome-wide association study of delay discounting in 23,217 adult research participants of European ancestry

(2017) Sandra Sanchez-Roige et al.   NATURE NEUROSCIENCE

Ethnic and population differences in the genetic predisposition to human obesity

(2017) C. Stryjecki et al.   Obesity Reviews

Detection and quantification of inbreeding depression for complex traits from SNP data

(2017) Loic Yengo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

(2017) Lorraine Southam et al.   Nature Communications

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

(2017) Audrey E. Hendricks et al.   Scientific Reports

Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium

(2017) Maggie C. Y. Ng et al.   PLoS Genetics

Benchmarking Relatedness Inference Methods with Genome-Wide Data from Thousands of Relatives

(2017) Monica D. Ramstetter et al.   GENETICS

Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency

(2017) Tinh-Hai Collet et al.   Molecular Metabolism

Whole genome characterization of sequence diversity of 15,220 Icelanders

(2017) Hákon Jónsson et al.   Scientific Data

Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data

(2016) Huwenbo Shi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

(2016) John D. Eicher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The importance of gene-environment interactions in human obesity

(2016) H. Reddon et al.   CLINICAL SCIENCE

Recent progress in genetics, epigenetics and metagenomics unveils the pathophysiology of human obesity

(2016) M. Pigeyre et al.   CLINICAL SCIENCE

Eating Behavior, Low-Frequency Functional Mutations in the Melanocortin-4 Receptor (MC4R) Gene, and Outcomes of Bariatric Operations: A 6-Year Prospective Study

(2016) Amélie Bonnefond et al.   DIABETES CARE

Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively

(2016) Andrew R. Wood et al.   DIABETOLOGIA

The second decade of 3C technologies: detailed insights into nuclear organization

(2016) Annette Denker et al.   GENES & DEVELOPMENT

Resetting the bar: Statistical significance in whole-genome sequencing-based association studies of global populations

(2016) Sara L. Pulit et al.   GENETIC EPIDEMIOLOGY

Testing the role of predicted gene knockouts in human anthropometric trait variation

(2016) Samuel Lessard et al.   HUMAN MOLECULAR GENETICS

Insertion of an SVA-E retrotransposon into theCASP8gene is associated with protection against prostate cancer

(2016) Simon N. Stacey et al.   HUMAN MOLECULAR GENETICS

The genetic history of Ice Age Europe

(2016) Qiaomei Fu et al.   NATURE

The genetic architecture of type 2 diabetes

(2016) Christian Fuchsberger et al.   NATURE

Schizophrenia risk from complex variation of complement component 4

(2016) Aswin Sekar et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits

(2016) Nathan Pankratz et al.   NATURE GENETICS

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

(2016) Praveen Surendran et al.   NATURE GENETICS

Identification of 15 genetic loci associated with risk of major depression in individuals of European descent

(2016) Craig L Hyde et al.   NATURE GENETICS

A thrifty variant in CREBRF strongly influences body mass index in Samoans

(2016) Ryan L Minster et al.   NATURE GENETICS

Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits

(2016) Jacqueline M Lane et al.   NATURE GENETICS

Detection and interpretation of shared genetic influences on 42 human traits

(2016) Joseph K Pickrell et al.   NATURE GENETICS

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

(2016) Zhihong Zhu et al.   NATURE GENETICS

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

Genome-wide association studies of drug response and toxicity: an opportunity for genome medicine

(2016) Kathleen M. Giacomini et al.   NATURE REVIEWS DRUG DISCOVERY

Unravelling the human genome–phenome relationship using phenome-wide association studies

(2016) William S. Bush et al.   NATURE REVIEWS GENETICS

Type 2 diabetes: genetic data sharing to advance complex disease research

(2016) Jason Flannick et al.   NATURE REVIEWS GENETICS

Developing and evaluating polygenic risk prediction models for stratified disease prevention

(2016) Nilanjan Chatterjee et al.   NATURE REVIEWS GENETICS

Dissecting the genetics of complex traits using summary association statistics

(2016) Bogdan Pasaniuc et al.   NATURE REVIEWS GENETICS

Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist

(2016) Peter Kühnen et al.   NEW ENGLAND JOURNAL OF MEDICINE

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk

(2016) Yingchang Lu et al.   Nature Communications

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

(2016) Janina S. Ried et al.   Nature Communications

Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels

(2016) Tuomas O. Kilpeläinen et al.   Nature Communications

Breast Cancer Risk From Modifiable and Nonmodifiable Risk Factors Among White Women in the United States

(2016) Paige Maas et al.   JAMA Oncology

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

(2015) Bjarni J. Vilhjálmsson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Leveraging Functional-Annotation Data in Trans-ethnic Fine-Mapping Studies

(2015) Gleb Kichaev et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare and Common Genetic Events in Type 2 Diabetes: What Should Biologists Know?

(2015) Amélie Bonnefond et al.   Cell Metabolism

Mendelian randomization analysis supports the causal role of dysglycaemia and diabetes in the risk of coronary artery disease

(2015) Stephanie Ross et al.   EUROPEAN HEART JOURNAL

Challenges in conducting genome-wide association studies in highly admixed multi-ethnic populations: the Generation R Study

(2015) Carolina Medina-Gomez et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

Evaluation of power of the Illumina HumanOmni5M-4v1 BeadChip to detect risk variants for human complex diseases

(2015) Chuanhua Xing et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

(2015) Malgorzata I Srebniak et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Contrasting genetic architectures in different mouse reference populations used for studying complex traits

(2015) David A. Buchner et al.   GENOME RESEARCH

A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration

(2015) Paul S. de Vries et al.   HUMAN MOLECULAR GENETICS

Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

(2015) Janine F. Felix et al.   HUMAN MOLECULAR GENETICS

Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals

(2015) K. T. Nead et al.   HUMAN MOLECULAR GENETICS

Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesity

(2015) Sara Hägg et al.   HUMAN MOLECULAR GENETICS

A genome-wide association study of body mass index across early life and childhood

(2015) N. M. Warrington et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials

(2015) Jessica L Mega et al.   LANCET

Prostate cancer screening in men aged 50–69 years (STHLM3): a prospective population-based diagnostic study

(2015) Henrik Grönberg et al.   LANCET ONCOLOGY

New genetic loci link adipose and insulin biology to body fat distribution

(2015) Dmitry Shungin et al.   NATURE

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

Genetic studies of body mass index yield new insights for obesity biology

(2015) Adam E. Locke et al.   NATURE

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

(2015) Jimmy Z Liu et al.   NATURE GENETICS

Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers

(2015) Suna Onengut-Gumuscu et al.   NATURE GENETICS

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease

(2015) Majid Nikpay et al.   NATURE GENETICS

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

(2015) Kyle J Gaulton et al.   NATURE GENETICS

Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis

(2015) Po-Ru Loh et al.   NATURE GENETICS

Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index

(2015) Jian Yang et al.   NATURE GENETICS

An atlas of genetic correlations across human diseases and traits

(2015) Brendan Bulik-Sullivan et al.   NATURE GENETICS

Large-scale whole-genome sequencing of the Icelandic population

(2015) Daniel F Gudbjartsson et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

Efficient Bayesian mixed-model analysis increases association power in large cohorts

(2015) Po-Ru Loh et al.   NATURE GENETICS

The genetics of diabetic complications

(2015) Emma Ahlqvist et al.   Nature Reviews Nephrology

FTO Obesity Variant Circuitry and Adipocyte Browning in Humans

(2015) Melina Claussnitzer et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2015) Lucas D. Ward et al.   NUCLEIC ACIDS RESEARCH

Genome-Wide Association Study Suggested thePTPRDPolymorphisms Were Associated With Weight Gain Effects of Atypical Antipsychotic Medications

(2015) Hao Yu et al.   SCHIZOPHRENIA BULLETIN

Diagnostic utility of microarray testing in pregnancy loss

(2015) J. A. Rosenfeld et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1

(2015) Adrian Cortes et al.   Nature Communications

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

(2015) Jie Huang et al.   Nature Communications

Contribution of Large Region Joint Associations to Complex Traits Genetics

(2015) Guillaume Paré et al.   PLoS Genetics

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

(2015) Thomas W. Winkler et al.   PLoS Genetics

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks

(2014) Gina M. Peloso et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KRLMM: an adaptive genotype calling method for common and low frequency variants

(2014) Ruijie Liu et al.   BMC BIOINFORMATICS

Using population isolates in genetic association studies

(2014) K. Hatzikotoulas et al.   Briefings in Functional Genomics

The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1 and Simvastatin-Induced Myopathy: 2014 Update

(2014) L B Ramsey et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’

(2014) Patrick Deelen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genome-wide association tests of inversions with application to psoriasis

(2014) Jianzhong Ma et al.   HUMAN GENETICS

A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity

(2014) J Philippe et al.   INTERNATIONAL JOURNAL OF OBESITY

An atlas of active enhancers across human cell types and tissues

(2014) Robin Andersson et al.   NATURE

Ancient human genomes suggest three ancestral populations for present-day Europeans

(2014) Iosif Lazaridis et al.   NATURE

A Crohn’s disease variant in Atg16l1 enhances its degradation by caspase 3

(2014) Aditya Murthy et al.   NATURE

Obesity-associated variants within FTO form long-range functional connections with IRX3

(2014) Scott Smemo et al.   NATURE

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

(2014) Ida Moltke et al.   NATURE

Leveraging population admixture to characterize the heritability of complex traits

(2014) Noah Zaitlen et al.   NATURE GENETICS

Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer

(2014) Lars A Forsberg et al.   NATURE GENETICS

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

(2014) Valgerdur Steinthorsdottir et al.   NATURE GENETICS

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

(2014) Jason Flannick et al.   NATURE GENETICS

Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits

(2014) Paul L Auer et al.   NATURE GENETICS

Quality control and conduct of genome-wide association meta-analyses

(2014) Thomas W Winkler et al.   Nature Protocols

Detecting epistasis in human complex traits

(2014) Wen-Hua Wei et al.   NATURE REVIEWS GENETICS

The contribution of genetic variants to disease depends on the ruler

(2014) John S. Witte et al.   NATURE REVIEWS GENETICS

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic susceptibility testing and readiness to control weight: Results from a randomized controlled trial

(2014) Susanne F. Meisel et al.   Obesity

Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

(2014) A. R. Majithia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

VEGAS2: Software for More Flexible Gene-Based Testing

(2014) Aniket Mishra et al.   Twin Research and Human Genetics

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

(2014) Maya Ghoussaini et al.   Nature Communications

Trans-ethnic genome-wide association studies: advantages and challenges of mapping in diverse populations

(2014) Yun R Li et al.   Genome Medicine

Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

(2014) Clive J. Hoggart et al.   PLoS Genetics

Chromosome X-Wide Association Study Identifies Loci for Fasting Insulin and Height and Evidence for Incomplete Dosage Compensation

(2014) Taru Tukiainen et al.   PLoS Genetics

Stratification by Smoking Status Reveals an Association of CHRNA5-A3-B4 Genotype with Body Mass Index in Never Smokers

(2014) Amy E. Taylor et al.   PLoS Genetics

Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake

(2013) Toshiko Tanaka et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

Weight Loss after Gastric Bypass Is Associated with a Variant at 15q26.1

(2013) Ida J. Hatoum et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fine Mapping and Identification of BMI Loci in African Americans

(2013) Jian Gong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Beyond GWASs: Illuminating the Dark Road from Association to Function

(2013) Stacey L. Edwards et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Robust methods for population stratification in genome wide association studies

(2013) Li Liu et al.   BMC BIOINFORMATICS

Pedigree and genotyping quality analyses of over 10,000 DNA samples from the Generation Scotland: Scottish Family Health Study

(2013) Shona M Kerr et al.   BMC Medical Genetics

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for IFNL3 (IL28B) Genotype and PEG Interferon-α–Based Regimens

(2013) A J Muir et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Association Between Variants of PRDM1 and NDP52 and Crohn's Disease, Based on Exome Sequencing and Functional Studies

(2013) David Ellinghaus et al.   GASTROENTEROLOGY

Targeted resequencing identifies defective variants of decoy receptor 3 in pediatric-onset inflammatory bowel disease

(2013) C J Cardinale et al.   GENES AND IMMUNITY

Human Cardiovascular Disease IBC Chip-Wide Association with Weight Loss and Weight Regain in the Look AHEAD Trial

(2013) Jeanne M. McCaffery et al.   HUMAN HEREDITY

Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico

(2013)   NATURE

Association between large detectable clonal mosaicism and type 2 diabetes with vascular complications

(2013) Amélie Bonnefond et al.   NATURE GENETICS

iCOGS collection provides a collaborative model

(2013) Orli G Bahcall   NATURE GENETICS

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

(2013) Sonja I Berndt et al.   NATURE GENETICS

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

(2013) Eleanor Wheeler et al.   NATURE GENETICS

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Epistasis and quantitative traits: using model organisms to study gene–gene interactions

(2013) Trudy F. C. Mackay   NATURE REVIEWS GENETICS

Molecular genetic testing and the future of clinical genomics

(2013) Sara Huston Katsanis et al.   NATURE REVIEWS GENETICS

Bringing genome-wide association findings into clinical use

(2013) Teri A. Manolio   NATURE REVIEWS GENETICS

Contribution of Common PCSK1 Genetic Variants to Obesity in 8,359 Subjects from Multi-Ethnic American Population

(2013) Hélène Choquet et al.   PLoS One

Best Practices and Joint Calling of the HumanExome BeadChip: The CHARGE Consortium

(2013) Megan L. Grove et al.   PLoS One

Causal and Synthetic Associations of Variants in the SERPINA Gene Cluster with Alpha1-antitrypsin Serum Levels

(2013) Gian Andri Thun et al.   PLoS Genetics

Ubiquitous Polygenicity of Human Complex Traits: Genome-Wide Analysis of 49 Traits in Koreans

(2013) Jian Yang et al.   PLoS Genetics

Deep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis

(2013) Mélissa Beaudoin et al.   PLoS Genetics

Inclusion of Gene-Gene and Gene-Environment Interactions Unlikely to Dramatically Improve Risk Prediction for Complex Diseases

(2012) Hugues Aschard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Five Years of GWAS Discovery

(2012) Peter M. Visscher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Subset-Based Approach Improves Power and Interpretation for the Combined Analysis of Genetic Association Studies of Heterogeneous Traits

(2012) Samsiddhi Bhattacharjee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

optiCall: a robust genotype-calling algorithm for rare, low-frequency and common variants

(2012) T. S. Shah et al.   BIOINFORMATICS

zCall: a rare variant caller for array-based genotyping

(2012) Jacqueline I. Goldstein et al.   BIOINFORMATICS

Genetics of Obesity: What have we Learned?

(2012) Helene Choquet et al.   CURRENT GENOMICS

Annotation of functional variation in personal genomes using RegulomeDB

(2012) A. P. Boyle et al.   GENOME RESEARCH

Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity

(2012) Julia S. El-Sayed Moustafa et al.   HUMAN MOLECULAR GENETICS

Challenges in reproducibility of genetic association studies: lessons learned from the obesity field

(2012) A Li et al.   INTERNATIONAL JOURNAL OF OBESITY

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

(2012) Michael E. Doche et al.   JOURNAL OF CLINICAL INVESTIGATION

FTO genotype is associated with phenotypic variability of body mass index

(2012) Jian Yang et al.   NATURE

Reconstructing Native American population history

(2012) David Reich et al.   NATURE

Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human

(2012) Atsuhiko Ichimura et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations

(2012) Yukinori Okada et al.   NATURE GENETICS

Meta-analysis identifies common variants associated with body mass index in east Asians

(2012) Wanqing Wen et al.   NATURE GENETICS

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

(2012) Amélie Bonnefond et al.   NATURE GENETICS

Detectable clonal mosaicism and its relationship to aging and cancer

(2012) Kevin B Jacobs et al.   NATURE GENETICS

Detectable clonal mosaicism from birth to old age and its relationship to cancer

(2012) Cathy C Laurie et al.   NATURE GENETICS

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

(2012) Jian Yang et al.   NATURE GENETICS

Mining electronic health records: towards better research applications and clinical care

(2012) Peter B. Jensen et al.   NATURE REVIEWS GENETICS

The mystery of missing heritability: Genetic interactions create phantom heritability

(2012) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Chapter 11: Genome-Wide Association Studies

(2012) William S. Bush et al.   PLoS Computational Biology

Novel Loci for Adiponectin Levels and Their Influence on Type 2 Diabetes and Metabolic Traits: A Multi-Ethnic Meta-Analysis of 45,891 Individuals

(2012) Zari Dastani et al.   PLoS Genetics

The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

(2012) Benjamin F. Voight et al.   PLoS Genetics

M3: an improved SNP calling algorithm for Illumina BeadArray data

(2011) Gengxin Li et al.   BIOINFORMATICS

Heterozygous Mutations Causing Partial Prohormone Convertase 1 Deficiency Contribute to Human Obesity

(2011) J. W. M. Creemers et al.   DIABETES

A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes

(2011) G. Thanabalasingham et al.   DIABETOLOGIA

DNA microarray as a tool in establishing genetic relatedness—Current status and future prospects

(2011) Daniel Kling et al.   Forensic Science International-Genetics

A fast algorithm to optimize SNP prioritization for gene-gene and gene-environment interactions

(2011) Wei Q. Deng et al.   GENETIC EPIDEMIOLOGY

Transethnic meta-analysis of genomewide association studies

(2011) Andrew P. Morris   GENETIC EPIDEMIOLOGY

Fine-Scale Estimation of Location of Birth from Genome-Wide Single-Nucleotide Polymorphism Data

(2011) Clive J. Hoggart et al.   GENETICS

A survey of the genetics of stomach, liver, and adipose gene expression from a morbidly obese cohort

(2011) D. M. Greenawalt et al.   GENOME RESEARCH

Design and coverage of high throughput genotyping arrays optimized for individuals of East Asian, African American, and Latino race/ethnicity using imputation and a novel hybrid SNP selection algorithm

(2011) Thomas J. Hoffmann et al.   GENOMICS

Genome-Wide Meta-Analysis of Joint Tests for Genetic and Gene-Environment Interaction Effects

(2011) Hugues Aschard et al.   HUMAN HEREDITY

The answer is 17 years, what is the question: understanding time lags in translational research

(2011) Zoë Slote Morris et al.   JOURNAL OF THE ROYAL SOCIETY OF MEDICINE

A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease

(2011) Patrick Brest et al.   NATURE GENETICS

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

(2011) Hilma Holm et al.   NATURE GENETICS

Genotype and SNP calling from next-generation sequencing data

(2011) Rasmus Nielsen et al.   NATURE REVIEWS GENETICS

High Frequencies of De Novo CNVs in Bipolar Disorder and Schizophrenia

(2011) Dheeraj Malhotra et al.   NEURON

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

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

Psychological Responses to Genetic Testing for Weight Gain: A Vignette Study

(2011) Susanne F. Meisel et al.   Obesity

Genetic Polymorphisms in the Hypothalamic Pathway in Relation to Subsequent Weight Change – The DiOGenes Study

(2011) Huaidong Du et al.   PLoS One

Promise and pitfalls of the Immunochip

(2011) Adrian Cortes et al.   ARTHRITIS RESEARCH & THERAPY

Synthetic Associations Created by Rare Variants Do Not Explain Most GWAS Results

(2011) Naomi R. Wray et al.   PLOS BIOLOGY

Synthetic Associations Are Unlikely to Account for Many Common Disease Genome-Wide Association Signals

(2011) Carl A. Anderson et al.   PLOS BIOLOGY

Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies

(2010) Kai Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Versatile Gene-Based Test for Genome-wide Association Studies

(2010) Jimmy Z. Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

LocusZoom: regional visualization of genome-wide association scan results

(2010) R. J. Pruim et al.   BIOINFORMATICS

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

Successes of Genome-wide Association Studies

(2010) Robert J. Klein et al.   CELL

Strategies for Genetic Studies of Complex Diseases

(2010) Kai Wang et al.   CELL

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

Assessment of High-Sensitivity C-Reactive Protein Levels as Diagnostic Discriminator of Maturity-Onset Diabetes of the Young Due to HNF1A Mutations

(2010) K. R. Owen et al.   DIABETES CARE

Maturity-onset diabetes of the young (MODY): how many cases are we missing?

(2010) B. M. Shields et al.   DIABETOLOGIA

Single nucleotide polymorphism microarray–based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos

(2010) Nathan R. Treff et al.   FERTILITY AND STERILITY

Meta-analysis of gene-environment interaction: joint estimation of SNP and SNP × environment regression coefficients

(2010) Alisa K. Manning et al.   GENETIC EPIDEMIOLOGY

Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels

(2010) Qi Sun et al.   HUMAN MOLECULAR GENETICS

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

(2010) R. G. Walters et al.   NATURE

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Hundreds of variants clustered in genomic loci and biological pathways affect human height

(2010) Hana Lango Allen et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Estimation of effect size distribution from genome-wide association studies and implications for future discoveries

(2010) Ju-Hyun Park et al.   NATURE GENETICS

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

(2010) Elizabeth K Speliotes et al.   NATURE GENETICS

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

Overexpression of Fto leads to increased food intake and results in obesity

(2010) Chris Church et al.   NATURE GENETICS

cnvHap: an integrative population and haplotype–based multiplatform model of SNPs and CNVs

(2010) Lachlan J M Coin et al.   NATURE METHODS

Data quality control in genetic case-control association studies

(2010) Carl A Anderson et al.   Nature Protocols

Genome-wide association studies in diverse populations

(2010) Noah A. Rosenberg et al.   NATURE REVIEWS GENETICS

Genotype imputation for genome-wide association studies

(2010) Jonathan Marchini et al.   NATURE REVIEWS GENETICS

Missing heritability and strategies for finding the underlying causes of complex disease

(2010) Evan E. Eichler et al.   NATURE REVIEWS GENETICS

Genomewide Association Studies and Assessment of the Risk of Disease

(2010) Teri A. Manolio   NEW ENGLAND JOURNAL OF MEDICINE

Biological Pathway-Based Genome-Wide Association Analysis Identified the Vasoactive Intestinal Peptide (VIP) Pathway Important for Obesity

(2010) Yong-Jun Liu et al.   Obesity

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

(2010) Amélie Bonnefond et al.   PLoS One

Investigation of a Genome Wide Association Signal for Obesity: Synthetic Association and Haplotype Analyses at the Melanocortin 4 Receptor Gene Locus

(2010) André Scherag et al.   PLoS One

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

(2010) W. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection

(2010) S. R. Grossman et al.   SCIENCE

The $1,000 genome, the $100,000 analysis?

(2010) Elaine R Mardis   Genome Medicine

Rare Variants Create Synthetic Genome-Wide Associations

(2010) Samuel P. Dickson et al.   PLOS BIOLOGY

A Genome-wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1

(2009) Deqiong Ma et al.   ANNALS OF HUMAN GENETICS

A Robust Genome-Wide Scan Statistic of the Wellcome Trust Case-Control Consortium

(2009) Jungnam Joo et al.   BIOMETRICS

Ten Putative Contributors to the Obesity Epidemic

(2009) Emily J. McAllister et al.   CRITICAL REVIEWS IN FOOD SCIENCE AND NUTRITION

A novel single-cell DNA fingerprinting method successfully distinguishes sibling human embryos

(2009) Nathan R. Treff et al.   FERTILITY AND STERILITY

Haplotype-based analysis: a summary of GAW16 Group 4 analysis

(2009) Elizabeth Hauser et al.   GENETIC EPIDEMIOLOGY

Machine learning in genome-wide association studies

(2009) Silke Szymczak et al.   GENETIC EPIDEMIOLOGY

Genome-Wide Association Study of Exercise Behavior in Dutch and American Adults

(2009) MARLEEN H.M. DE MOOR et al.   MEDICINE AND SCIENCE IN SPORTS AND EXERCISE

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Common genetic variants on 5p14.1 associate with autism spectrum disorders

(2009) Kai Wang et al.   NATURE

Large, rare chromosomal deletions associated with severe early-onset obesity

(2009) Elena G. Bochukova et al.   NATURE

Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance

(2009) Dongliang Ge et al.   NATURE

Inactivation of the Fto gene protects from obesity

(2009) Julia Fischer et al.   NATURE

Reconstructing Indian population history

(2009) David Reich et al.   NATURE

Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations

(2009) David Meyre et al.   NATURE GENETICS

IL28B is associated with response to chronic hepatitis C interferon-α and ribavirin therapy

(2009) Vijayaprakash Suppiah et al.   NATURE GENETICS

Genome-wide association of IL28B with response to pegylated interferon-α and ribavirin therapy for chronic hepatitis C

(2009) Yasuhito Tanaka et al.   NATURE GENETICS

Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease

(2009) David-Alexandre Trégouët et al.   NATURE GENETICS

Human genetic variation and its contribution to complex traits

(2009) Kelly A. Frazer et al.   NATURE REVIEWS GENETICS

Bayesian statistical methods for genetic association studies

(2009) Matthew Stephens et al.   NATURE REVIEWS GENETICS

Genomewide Association Studies — Illuminating Biologic Pathways

(2009) Joel N. Hirschhorn   NEW ENGLAND JOURNAL OF MEDICINE

Common Genetic Variation and Human Traits

(2009) David B. Goldstein   NEW ENGLAND JOURNAL OF MEDICINE

A Rare Variant in the Visfatin Gene (NAMPT/PBEF1) Is Associated With Protection From Obesity

(2009) Alexandra I.F. Blakemore et al.   Obesity

Linkage and Genome-wide Association Analysis of Obesity-related Phenotypes: Association of Weight With the MGAT1 Gene

(2009) Åsa Johansson et al.   Obesity

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

Managing and Analyzing Next-Generation Sequence Data

(2009) Brent G. Richter et al.   PLoS Computational Biology

Meta-Analysis of Genome-Wide Scans for Human Adult Stature Identifies Novel Loci and Associations with Measures of Skeletal Frame Size

(2009) Nicole Soranzo et al.   PLoS Genetics

The Genome-wide Patterns of Variation Expose Significant Substructure in a Founder Population

(2008) Eveliina Jakkula et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Polymorphisms of the HNF1A Gene Encoding Hepatocyte Nuclear Factor-1α are Associated with C-Reactive Protein

(2008) Alexander P. Reiner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loci Related to Metabolic-Syndrome Pathways Including LEPR,HNF1A, IL6R, and GCKR Associate with Plasma C-Reactive Protein: The Women's Genome Health Study

(2008) Paul M. Ridker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans

(2008) Anne-Kathrin Wermter et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Estimation of significance thresholds for genomewide association scans

(2008) Frank Dudbridge et al.   GENETIC EPIDEMIOLOGY

Estimation of the multiple testing burden for genomewide association studies of nearly all common variants

(2008) Itsik Pe'er et al.   GENETIC EPIDEMIOLOGY

Genome-wide association scans identified CTNNBL1 as a novel gene for obesity

(2008) Yong-Jun Liu et al.   HUMAN MOLECULAR GENETICS

Genome-based prediction of common diseases: advances and prospects

(2008) A. C. J.W. Janssens et al.   HUMAN MOLECULAR GENETICS

The ADRB3 Trp64Arg variant and BMI: a meta-analysis of 44 833 individuals

(2008) N Kurokawa et al.   INTERNATIONAL JOURNAL OF OBESITY

Whole genome SNP arrays as a potential diagnostic tool for the detection of characteristic chromosomal aberrations in renal epithelial tumors

(2008) Federico A Monzon et al.   MODERN PATHOLOGY

Common nonsynonymous variants in PCSK1 confer risk of obesity

(2008) Michael Benzinou et al.   NATURE GENETICS

Genome-wide association analysis identifies 20 loci that influence adult height

(2008) Michael N Weedon et al.   NATURE GENETICS

Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus

(2008) Kazuki Yasuda et al.   NATURE GENETICS

SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations

(2008) Hiroyuki Unoki et al.   NATURE GENETICS

Many sequence variants affecting diversity of adult human height

(2008) Daniel F Gudbjartsson et al.   NATURE GENETICS

Identification of ten loci associated with height highlights new biological pathways in human growth

(2008) Guillaume Lettre et al.   NATURE GENETICS

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

(2008) Joshua M Korn et al.   NATURE GENETICS

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

(2008) Cristen J Willer et al.   NATURE GENETICS

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS

Heritability in the genomics era — concepts and misconceptions

(2008) Peter M. Visscher et al.   NATURE REVIEWS GENETICS

SLCO1B1Variants and Statin-Induced Myopathy — A Genomewide Study

(2008)   NEW ENGLAND JOURNAL OF MEDICINE

Discerning the Ancestry of European Americans in Genetic Association Studies

(2008) Alkes L. Price et al.   PLoS Genetics

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE

Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays

(2008) Nils Homer et al.   PLoS Genetics