The UK Biobank resource with deep phenotyping and genomic data

Published

2018

Audience

Therapeutic Area

Content Type

AI Generated Summary*

UK Biobank enrolled roughly 500,000 UK residents aged 40 to 69, with questionnaires, physical and blood-based measures and consent for health record linkage; eye tests and imaging were added later, in subsets. Two related arrays left 488,377 samples and 805,426 markers after quality control. Phasing and imputation against the Haplotype Reference Consortium plus a merged UK10K and 1000 Genomes panel lifted testable variants to about 96 million. Some 30.3 percent of participants had a third-degree or closer relative enrolled. Classical alleles at 11 HLA genes were imputed, with estimated accuracy above 96 percent for higher-confidence calls, reproducing known disease signals. A standing height scan of 343,321 unrelated European-ancestry participants tracked GIANT results (Z-score r squared 0.965) with greater power.

*This summary was generated by AI and is published unedited. Oku does not alter these summaries. It may contain errors or omissions and is provided for general informational purposes only. Oku does not guarantee its accuracy, completeness, or reliability. For authoritative information, please refer to the original, peer-reviewed article.

At a glance

Authors
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; Alan Young; Mark Effingham; Gil McVean; Stephen Leslie; Naomi Allen; Peter Donnelly; Jonathan Marchini
Publication
Nature
Keywords
Alleles, Biomarker, Body Height, Brain, Databases, Factual
Year
2018
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