Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

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

(2018) Anubha Mahajan et al.   NATURE GENETICS

Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells

(2018) Soren K. Thomsen 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

Mice harboring the humanSLC30A8R138X loss-of-function mutation have increased insulin secretory capacity

(2018) Sandra Kleiner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

(2018) Anubha Mahajan et al.   NATURE GENETICS

Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology

(2017) Jennifer A Brody et al.   NATURE GENETICS

A dynamic map for learning, communicating, navigating and improving therapeutic development

(2017) John Wagner et al.   NATURE REVIEWS DRUG DISCOVERY

DrugBank 5.0: a major update to the DrugBank database for 2018

(2017) David S Wishart et al.   NUCLEIC ACIDS RESEARCH

Control for Population Structure and Relatedness for Binary Traits in Genetic Association Studies via Logistic Mixed Models

(2016) Han Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Systematic Functional Characterization of Candidate Causal Genes for Type 2 Diabetes Risk Variants

(2016) Soren K. Thomsen et al.   DIABETES

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

The genetic architecture of type 2 diabetes

(2016) Christian Fuchsberger et al.   NATURE

Weighting sequence variants based on their annotation increases power of whole-genome association studies

(2016) Gardar Sveinbjornsson et al.   NATURE GENETICS

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

Next-generation genotype imputation service and methods

(2016) Sayantan Das et al.   NATURE GENETICS

Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes

(2016) Jason Flannick et al.   Nature Reviews Endocrinology

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

(2016) Jason Flannick et al.   NATURE REVIEWS GENETICS

Mouse Genome Database (MGD)-2017: community knowledge resource for the laboratory mouse

(2016) Judith A. Blake et al.   NUCLEIC ACIDS RESEARCH

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

(2016) Frederick E. Dewey et al.   SCIENCE

ATM Protein Kinase Signaling, Type 2 Diabetes and Cardiovascular Disease

(2015) Yolandi Espach et al.   CARDIOVASCULAR DRUGS AND THERAPY

Rare Exome Sequence Variants inCLCN6Reduce Blood Pressure Levels and Hypertension RiskCLINICAL PERSPECTIVE

(2015) Bing Yu et al.   Circulation-Cardiovascular Genetics

Six novel rare non-synonymous mutations for migraine without aura identified by exome sequencing

(2015) Yue Jiang et al.   JOURNAL OF NEUROGENETICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

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

(2015) Kyle J Gaulton et al.   NATURE GENETICS

Partitioning heritability by functional annotation using genome-wide association summary statistics

(2015) Hilary K Finucane et al.   NATURE GENETICS

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

(2015) Jennifer Wessel et al.   Nature Communications

Distinct X-chromosome SNVs from some sporadic AD samples

(2015) A. Gómez-Ramos et al.   Scientific Reports

ATM Regulates Adipocyte Differentiation and Contributes to Glucose Homeostasis

(2015) Masatoshi Takagi et al.   Cell Reports

Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus

(2015) Anubha Mahajan et al.   PLoS Genetics

The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease

(2015) Loukas Moutsianas et al.   PLoS Genetics

Rare Exome Sequence Variants inCLCN6Reduce Blood Pressure Levels and Hypertension RiskCLINICAL PERSPECTIVE

(2015) Bing Yu et al.   Circulation-Cardiovascular Genetics

Joint Analysis of Functional Genomic Data and Genome-wide Association Studies of 18 Human Traits

(2014) Joseph K. Pickrell   AMERICAN JOURNAL OF HUMAN GENETICS

SLC30A8 mutations in type 2 diabetes

(2014) Guy A. Rutter et al.   DIABETOLOGIA

Association of a Low-Frequency Variant inHNF1AWith Type 2 Diabetes in a Latino Population

(2014) Karol Estrada et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

(2014) Ron Do et al.   NATURE

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

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

(2014) Anubha Mahajan et al.   NATURE GENETICS

Searching for missing heritability: Designing rare variant association studies

(2014) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes

(2013) Kirk E. Lohmueller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

IG20/MADDPlays a Critical Role in Glucose-Induced Insulin Secretion

(2013) Liang-cheng Li et al.   DIABETES

Recommended Joint and Meta-Analysis Strategies for Case-Control Association Testing of Single Low-Count Variants

(2013) Clement Ma et al.   GENETIC EPIDEMIOLOGY

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

(2013)   NATURE

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

(2013) Jason Flannick et al.   NATURE GENETICS

Validating therapeutic targets through human genetics

(2013) Robert M. Plenge et al.   NATURE REVIEWS DRUG DISCOVERY

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Genomic responses in mouse models poorly mimic human inflammatory diseases

(2013) Junhee Seok et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism

(2012) K. E. Snider et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

(2012)   NATURE GENETICS

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GATES: A Rapid and Powerful Gene-Based Association Test Using Extended Simes Procedure

(2011) Miao-Xin Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases

(2011) Hon-Cheong So et al.   GENETIC EPIDEMIOLOGY

Towards Accurate Estimation of the Proportion of True Null Hypotheses in Multiple Testing

(2011) Shu-Dong Zhang   PLoS One

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

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

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

(2010) Kaixin Zhou et al.   NATURE GENETICS

Variance component model to account for sample structure in genome-wide association studies

(2010) Hyun Min Kang et al.   NATURE GENETICS

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

Common Inherited Variation in Mitochondrial Genes Is Not Enriched for Associations with Type 2 Diabetes or Related Glycemic Traits

(2010) Ayellet V. Segrè et al.   PLoS Genetics

Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium

(2009) Bruce M. Psaty et al.   Circulation-Cardiovascular Genetics

Bayesian statistical methods for genetic association studies

(2009) Matthew Stephens et al.   NATURE REVIEWS GENETICS

Common Genetic Variation and Human Traits

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

Functional Characterization and Structural Modeling of Obesity Associated Mutations in the Melanocortin 4 Receptor

(2008) Karen Tan et al.   ENDOCRINOLOGY

Common genetic variation near MC4R is associated with waist circumference and insulin resistance

(2008) John C Chambers et al.   NATURE GENETICS

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE