IDEAS home Printed from https://ideas.repec.org/a/nat/nature/v562y2018i7726d10.1038_s41586-018-0579-z.html
   My bibliography  Save this article

The UK Biobank resource with deep phenotyping and genomic data

Author

Listed:
  • Clare Bycroft

    (University of Oxford)

  • Colin Freeman

    (University of Oxford)

  • Desislava Petkova

    (University of Oxford
    Procter & Gamble)

  • Gavin Band

    (University of Oxford)

  • Lloyd T. Elliott

    (University of Oxford)

  • Kevin Sharp

    (University of Oxford)

  • Allan Motyer

    (The University of Melbourne, Parkville)

  • Damjan Vukcevic

    (The University of Melbourne, Parkville
    Murdoch Children’s Research Institute, Parkville)

  • Olivier Delaneau

    (University of Geneva
    University of Geneva
    University of Geneva)

  • Jared O’Connell

    (Illumina Ltd, Chesterford Research Park, Little Chesterford)

  • Adrian Cortes

    (University of Oxford
    Division of Clinical Neurology, John Radcliffe Hospital, University of Oxford)

  • Samantha Welsh

    (UK Biobank, Adswood, Stockport)

  • Alan Young

    (University of Oxford)

  • Mark Effingham

    (UK Biobank, Adswood, Stockport)

  • Gil McVean

    (University of Oxford
    University of Oxford)

  • Stephen Leslie

    (The University of Melbourne, Parkville
    Murdoch Children’s Research Institute, Parkville)

  • Naomi Allen

    (University of Oxford)

  • Peter Donnelly

    (University of Oxford
    University of Oxford)

  • Jonathan Marchini

    (University of Oxford
    University of Oxford)

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.

Suggested Citation

  • Clare Bycroft & Colin Freeman & Desislava Petkova & Gavin Band & Lloyd T. Elliott & Kevin Sharp & Allan Motyer & Damjan Vukcevic & Olivier Delaneau & Jared O’Connell & Adrian Cortes & Samantha Welsh &, 2018. "The UK Biobank resource with deep phenotyping and genomic data," Nature, Nature, vol. 562(7726), pages 203-209, October.
    • Handle: RePEc:nat:nature:v:562:y:2018:i:7726:d:10.1038_s41586-018-0579-z
    DOI: 10.1038/s41586-018-0579-z
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/s41586-018-0579-z
    File Function: Abstract
    Download Restriction: Access to the full text of the articles in this series is restricted.
    File URL: https://libkey.io/10.1038/s41586-018-0579-z?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    As the access to this document is restricted, you may want to search for a different version of it.

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:nature:v:562:y:2018:i:7726:d:10.1038_s41586-018-0579-z. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.