The UK Biobank resource with deep phenotyping and genomic data

TLDR

The UK Biobank is a prospective cohort of ~500,000 UK adults aged 40–69, providing extensive phenotypic, lifestyle, biomarker, imaging, and linked health record data, and genome‑wide genotypes for large‑scale genetic discovery. The study aims to centrally analyze UK Biobank genotypes, evaluating quality, population structure, and relatedness. Efficient phasing and genotype imputation were applied, increasing the testable variant set to ~96 million. Imputation of classical allelic variation at 11 HLA genes recovered known disease‑associated signals, demonstrating the resource’s utility for mapping HLA–disease relationships.

Abstract

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, aged between 40 and 69 at recruitment. The open resource is unique in its size and scope. A rich variety of phenotypic and health-related information is available on each participant, including biological measurements, lifestyle indicators, biomarkers in blood and urine, and imaging of the body and brain. Follow-up information is provided by linking health and medical records. Genome-wide genotype data have been collected on all participants, providing many opportunities for the discovery of new genetic associations and the genetic bases of complex traits. Here we describe the centralized analysis of the genetic data, including genotype quality, properties of population structure and relatedness of the genetic data, and efficient phasing and genotype imputation that increases the number of testable variants to around 96 million. Classical allelic variation at 11 human leukocyte antigen genes was imputed, resulting in the recovery of signals with known associations between human leukocyte antigen alleles and many diseases.