Skip to main content

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

  • Bycroft C
  • Freeman C
  • Petkova D
  • et al.
N/ACitations
Citations of this article
492Readers
Mendeley users who have this article in their library.
Get full text
This PDF is freely available from an open access repository. It may not have been peer-reviewed.

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 phenotypic and health-related information is available on each participant, making the resource unprecedented in its size and scope. Here we describe the genome-wide genotype data (~805,000 markers) collected on all individuals in the cohort and its quality control procedures. Genotype data on this scale offers novel opportunities for assessing quality issues, although the wide range of ancestries of the individuals in the cohort also creates particular challenges. We also conducted a set of analyses that reveal properties of the genetic data – such as population structure and relatedness – that can be important for downstream analyses. In addition, we phased and imputed genotypes into the dataset, using computationally efficient methods combined with the Haplotype Reference Consortium (HRC) and UK10K haplotype resource. This increases the number of testable variants by over 100-fold to ~96 million variants. We also imputed classical allelic variation at 11 human leukocyte antigen (HLA) genes, and as a quality control check of this imputation, we replicate signals of known associations between HLA alleles and many common diseases. We describe tools that allow efficient genome-wide association studies (GWAS) of multiple traits and fast phenome-wide association studies (PheWAS), which work together with a new compressed file format that has been used to distribute the dataset. As a further check of the genotyped and imputed datasets, we performed a test-case genome-wide association scan on a well-studied human trait, standing height.

Cite

CITATION STYLE

APA

Bycroft, C., Freeman, C., Petkova, D., Band, G., Elliott, L., Sharp, K., … Marchini, J. (2017). Genome-wide genetic data on ~500,000 UK Biobank participants. BioRxiv, 166298. https://doi.org/10.1101/166298

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free