Gil McVean

The UK Biobank resource with deep phenotyping and genomic data

Abstract The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data collected on approximately 500,000 individuals from across the United Kingdom...

De novo assembly and genotyping of variants using colored de Bruijn graphs

A global reference for human genetic variation

The variant call format and VCFtools

Abstract Summary: The variant call format (VCF) is a generic format for storing DNA polymorphism data such as SNPs, insertions, deletions and structural variants, together with ...

Bayesian refinement of association signals for 14 loci in 3 common diseases

Class II HLA interactions modulate genetic risk for multiple sclerosis

Multi-Population Classical HLA Type Imputation

Statistical imputation of classical HLA alleles in case-control studies has become established as a valuable tool for identifying and fine-mapping signals of disease association...

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

Many individuals with multiple or large colorectal adenomas or early-onset colorectal cancer (CRC) have no detectable germline mutations in the known cancer predisposition genes...

An integrated map of genetic variation from 1,092 human genomes

By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribu...

Mapping copy number variation by population-scale genome sequencing

Demographic history and rare allele sharing among human populations

High-throughput sequencing technology enables population-level surveys of human genomic variation. Here, we examine the joint allele frequency distributions across continental h...

Differential confounding of rare and common variants in spatially structured populations

TNF receptor 1 genetic risk mirrors outcome of anti-TNF therapy in multiple sclerosis

Integrating common and rare genetic variation in diverse human populations

Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide ...

Genome-wide genetic data on ~500,000 UK Biobank participants

Abstract The UK Biobank project is a large prospective cohort study of ~500,000 individuals from across the United Kingdom, aged between 40-69 at recruitment. A rich variety of ...