Jonathan K. Pritchard

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...

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

Defective Gene Detective Identifying genes that give rise to diseases is one of the major goals of sequencing human genomes. However, putative loss-of-function genes, which are ...

Inference of Population Structure Using Multilocus Genotype Data: Linked Loci and Correlated Allele Frequencies

Abstract We describe extensions to the method of Pritchard et al. for inferring population structure from multilocus genotype data. Most importantly, we develop methods that all...

Understanding mechanisms underlying human gene expression variation with RNA sequencing

Revealing the architecture of gene regulation: the promise of eQTL studies

Noisy Splicing Drives mRNA Isoform Diversity in Human Cells

While the majority of multiexonic human genes show some evidence of alternative splicing, it is unclear what fraction of observed splice forms is functionally relevant. In this ...

Confounding from Cryptic Relatedness in Case-Control Association Studies

Case-control association studies are widely used in the search for genetic variants that contribute to human diseases. It has long been known that such studies may suffer from h...

Are Rare Variants Responsible for Susceptibility to Complex Diseases?

The allelic architecture of human disease genes: common disease-common variant... or not?

Linkage disequilibrium (LD) plays a central role in current and proposed methods for mapping complex disease genes. LD-based methods work best when there is a single susceptibil...

Genetic diversity and introgression in the Scottish wildcat

Abstract This paper describes a genetic analysis of wild‐living cats in Scotland. Samples from 230 wild‐living Scottish cats (including 13 museum skins) and 74 house cats from E...

Traces of Human Migrations in <i>Helicobacter pylori</i> Populations

Helicobacter pylori , a chronic gastric pathogen of human beings, can be divided into seven populations and subpopulations with distinct geographical distributions. These modern...