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The sequences of 150,119 genomes in the UK Biobank

The sequences of 150,119 genomes in the UK Biobank


Title: The sequences of 150,119 genomes in the UK Biobank
Author: DBDS Genetic Consortium
Date: 2022-07-20
Language: English
Scope: 9
University/Institute: Reykjavik University
Landspitali - The National University Hospital of Iceland
School: Health Sciences
Department: Faculty of Electrical and Computer Engineering
Faculty of Industrial Engineering, Mechanical Engineering and Computer Science
Faculty of Business Administration
Faculty of Medicine
Internal Medicine and Emergency Services
Clinical Laboratory Services, Diagnostics and Blood Bank
Geriatric and Rehabilitation Services
Other departments
Faculty of Sociology, Anthropology and Folkloristics
Series: Nature; 607(7920)
ISSN: 0028-0836
DOI: https://doi.org/10.1038/s41586-022-04965-x
Subject: Lífefna- og sameindalíffræði; Gigtarlæknisfræði; Öldrunarlæknisfræði; Náttúrufræðingar; Africa/ethnology; Asia/ethnology; Biological Specimen Banks; Cohort Studies; Conserved Sequence; Databases, Genetic; Exons/genetics; Genetic Variation; Genome, Human/genetics; Genomics; Haplotypes/genetics; Humans; INDEL Mutation; Ireland/ethnology; Microsatellite Repeats; Polymorphism, Single Nucleotide/genetics; United Kingdom; Whole Genome Sequencing; Multidisciplinary
URI: https://hdl.handle.net/20.500.11815/3495

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Citation:

DBDS Genetic Consortium 2022 , ' The sequences of 150,119 genomes in the UK Biobank ' , Nature , vol. 607 , no. 7920 , pp. 732-740 . https://doi.org/10.1038/s41586-022-04965-x

Abstract:

Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. Over the past decade, insights into this relationship have been obtained from whole-exome sequencing or whole-genome sequencing of large cohorts with rich phenotypic data1,2. Here we describe the analysis of whole-genome sequencing of 150,119 individuals from the UK Biobank3. This constitutes a set of high-quality variants, including 585,040,410 single-nucleotide polymorphisms, representing 7.0% of all possible human single-nucleotide polymorphisms, and 58,707,036 indels. This large set of variants allows us to characterize selection based on sequence variation within a population through a depletion rank score of windows along the genome. Depletion rank analysis shows that coding exons represent a small fraction of regions in the genome subject to strong sequence conservation. We define three cohorts within the UK Biobank: a large British Irish cohort, a smaller African cohort and a South Asian cohort. A haplotype reference panel is provided that allows reliable imputation of most variants carried by three or more sequenced individuals. We identified 895,055 structural variants and 2,536,688 microsatellites, groups of variants typically excluded from large-scale whole-genome sequencing studies. Using this formidable new resource, we provide several examples of trait associations for rare variants with large effects not found previously through studies based on whole-exome sequencing and/or imputation.

Description:

Funding Information: We thank the participants of the UKB. The sequencing of 450,000 WGS individuals from the UKB, including the 150,119 described here has been funded by the UKB WGS consortium consisting of the UK Government’s research and innovation agency, UK Research and Innovation (UKRI), through the Industrial Strategy Challenge Fund, The Wellcome Trust and the pharmaceutical companies Amgen, AstraZeneca, GlaxoSmithKline and Johnson & Johnson. DNA sequencing was performed at the Welcome Trust Sanger Institute and deCODE genetics. Funding Information: We thank the participants of the UKB. The sequencing of 450,000 WGS individuals from the UKB, including the 150,119 described here has been funded by the UKB WGS consortium consisting of the UK Government’s research and innovation agency, UK Research and Innovation (UKRI), through the Industrial Strategy Challenge Fund, The Wellcome Trust and the pharmaceutical companies Amgen, AstraZeneca, GlaxoSmithKline and Johnson & Johnson. DNA sequencing was performed at the Welcome Trust Sanger Institute and deCODE genetics. Publisher Copyright: © 2022, The Author(s).

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