Publications

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

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 SCARE 2020 Guideline: Updating Consensus Surgical CAse REport (SCARE) Guidelines

A DELPHI consensus exercise was completed and an updated and improved SCARE Checklist is now presented.

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

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

A Proteome-Scale Map of the Human Interactome Network

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia