Mark I. McCarthy

The Genotype-Tissue Expression (GTEx) project.

Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain un...

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

Expression, genetic variation, and tissues Human genomes show extensive genetic variation across individuals, but we have only just started documenting the effects of this varia...

Transcriptome and genome sequencing uncovers functional variation in humans

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

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...

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

There is increasing evidence that genome-wide association (GWA) studies represent a powerful approach to the identification of genes involved in common human diseases. We descri...

A Common Variant in the <i>FTO</i> Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity

Obesity is a serious international health problem that increases the risk of several common diseases. The genetic factors predisposing to obesity are poorly understood. A genome...

Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes

The molecular mechanisms involved in the development of type 2 diabetes are poorly understood. Starting from genome-wide genotype data for 1924 diabetic cases and 2938 populatio...

Mapping cis- and trans-regulatory effects across multiple tissues in twins