Rare-variant genome-wide association studies: a new frontier in genetic analysis of complex traits

An Exponential Combination Procedure for Set-Based Association Tests in Sequencing Studies

(2012) Lin S. Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Imputation of Exome Sequence Variants into Population- Based Samples and Blood-Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing Project

(2012) Paul L. Auer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer

(2012) Wei Tang et al.   HUMAN MOLECULAR GENETICS

Exome sequencing and complex disease: practical aspects of rare variant association studies

(2012) R. Do et al.   HUMAN MOLECULAR GENETICS

Novel common and rare genetic determinants of paraoxonase activity:FTO,SERPINA12, andITGAL

(2012) Daniel S. Kim et al.   JOURNAL OF LIPID RESEARCH

Rare Allelic Variants Determine Folate Status in an Unsupplemented European Population

(2012) Markéta Pavlíková et al.   JOURNAL OF NUTRITION

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

(2012) Bogdan Pasaniuc et al.   NATURE GENETICS

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

(2012) Amélie Bonnefond et al.   NATURE GENETICS

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson et al.   NATURE GENETICS

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

(2012) Julius Gudmundsson et al.   NATURE GENETICS

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

(2012)   NATURE GENETICS

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

(2012) Jeroen R Huyghe et al.   NATURE GENETICS

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

(2012) Thorlakur Jonsson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

(2012) M. R. Nelson et al.   SCIENCE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

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

(2012) Benjamin F. Voight et al.   PLoS 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

Comparison of statistical tests for disease association with rare variants

(2011) Saonli Basu et al.   GENETIC EPIDEMIOLOGY

Identification of low-frequency variants associated with gout and serum uric acid levels

(2011) Patrick Sulem et al.   NATURE GENETICS

Genome partitioning of genetic variation for complex traits using common SNPs

(2011) Jian Yang et al.   NATURE GENETICS

Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction

(2011) Jessica Shea et al.   NATURE GENETICS

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

(2011) Simon N Stacey et al.   NATURE GENETICS

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

Mutations in BRIP1 confer high risk of ovarian cancer

(2011) Thorunn Rafnar et al.   NATURE GENETICS

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

(2011) Gregory M. Cooper et al.   NATURE REVIEWS GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Testing for an Unusual Distribution of Rare Variants

(2011) Benjamin M. Neale et al.   PLoS Genetics

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

(2010) Alkes L. Price et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

(2010) Elizabeth K Speliotes et al.   NATURE 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

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

Rare Variants Create Synthetic Genome-Wide Associations

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

Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS

(2010) Dan L. Nicolae et al.   PLoS Genetics

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

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

A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic

(2009) Bo Eskerod Madsen et al.   PLoS Genetics

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The complete genome of an individual by massively parallel DNA sequencing

(2008) David A. Wheeler et al.   NATURE

Common variants near MC4R are associated with fat mass, weight and risk of obesity

(2008) Ruth J F Loos et al.   NATURE GENETICS

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

(2008) Weizhen Ji et al.   NATURE GENETICS

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity

(2008) Gudmar Thorleifsson 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