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...