David Altshuler

PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes

A global reference for human genetic variation

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

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

A Deep Look Into Our Genes Recent debates have focused on the degree of genetic variation and its impact upon health at the genomic level in humans (see the Perspective by Casal...

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

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

Age-related clonal hematopoiesis is a common condition that is associated with increases in the risk of hematologic cancer and in all-cause mortality, with the latter possibly d...

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

Methods for High-Density Admixture Mapping of Disease Genes

Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels

New strategies for prevention and treatment of type 2 diabetes (T2D) require improved insight into disease etiology. We analyzed 386,731 common single-nucleotide polymorphisms (...

Positive Natural Selection in the Human Lineage

Positive natural selection is the force that drives the increase in prevalence of advantageous traits, and it has played a central role in our development as a species. Until re...

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Next-generation DNA sequencing (NGS) projects, such as the 1000 Genomes Project, are already revolutionizing our understanding of genetic variation among individuals. However, t...

Genetic Mapping in Human Disease

Genetic mapping provides a powerful approach to identify genes and biological processes underlying any trait influenced by inheritance, including human diseases. We discuss the ...

From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

Abstract This unit describes how to use BWA and the Genome Analysis Toolkit (GATK) to map genome sequencing data to a reference and produce high‐quality variant calls that can b...