Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

The genetic architecture of type 2 diabetes

(2016) Christian Fuchsberger et al.   NATURE

Methods for Association Analysis and Meta-Analysis of Rare Variants in Families

(2015) Shuang Feng et al.   GENETIC EPIDEMIOLOGY

An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data

(2015) Goo Jun et al.   GENOME RESEARCH

Recent advances in understanding the genetic architecture of type 2 diabetes

(2015) Karen L. Mohlke et al.   HUMAN MOLECULAR GENETICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

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

(2015) Adam E. Locke et al.   NATURE

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

(2015) Carlo Sidore et al.   NATURE GENETICS

Genetics of Type 2 Diabetes—Pitfalls and Possibilities

(2015) Rashmi Prasad et al.   Genes

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

(2014) Ida Moltke et al.   NATURE

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

(2012)   NATURE GENETICS

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

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

(2010) Hyun Min Kang et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

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

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

Genetics of Atherosclerosis Risk Factors in Mexican Americans

(2010) Jean W. MacCluer et al.   NUTRITION REVIEWS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Personal genomes: The case of the missing heritability

(2008) Brendan Maher   NATURE