The UK Biobank resource with deep phenotyping and genomic data

被引：5346

作者：

Bycroft, Clare ^{[1
]}

Freeman, Colin ^{[1
]}

Petkova, Desislava ^{[1
,14
]}

Band, Gavin ^{[1
]}

Elliott, Lloyd T. ^{[2
]}

Sharp, Kevin ^{[2
]}

Motyer, Allan ^{[3
,4
,5
]}

Vukcevic, Damjan ^{[3
,4
,5
,6
]}

Delaneau, Olivier ^{[7
,8
,9
]}

O'Connell, Jared ^{[10
]}

Cortes, Adrian ^{[1
,11
]}

Welsh, Samantha ^{[12
]}

Young, Alan ^{[13
]}

Effingham, Mark ^{[12
]}

McVean, Gil ^{[1
,13
]}

Leslie, Stephen ^{[3
,4
,5
,6
]}

Allen, Naomi ^{[13
]}

Donnelly, Peter ^{[1
,2
]}

Marchini, Jonathan ^{[1
,2
]}

机构：

[1] Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

[2] Univ Oxford, Dept Stat, Oxford, England

[3] Univ Melbourne, Melbourne Integrat Genom, Parkville, Vic, Australia

[4] Univ Melbourne, Sch Math & Stat, Parkville, Vic, Australia

[5] Univ Melbourne, Sch BioSci, Parkville, Vic, Australia

[6] Murdoch Childrens Res Inst, Parkville, Vic, Australia

[7] Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland

[8] Univ Geneva, Swiss Inst Bioinformat, Geneva, Switzerland

[9] Univ Geneva, Inst Genet & Genom Geneva, Geneva, Switzerland

[10] Illumina Ltd, Chesterford Res Pk, Saffron Walden, Essex, England

[11] Univ Oxford, John Radcliffe Hosp, Div Clin Neurol, Nuffield Dept Clin Neu rosci, Oxford, England

[12] UK Biobank, Stockport, Cheshire, England

[13] Univ Oxford, Li Ka Shing Ctr Hlth Informat & Discovery, Big Data Inst, Oxford, England

[14] Procter & Gamble, Brussels, Belgium

来源：

NATURE | 2018年 / 562卷 / 7726期

基金：

欧洲研究理事会; 澳大利亚国家健康与医学研究理事会; 英国惠康基金;

关键词：

CRYPTIC RELATEDNESS; GENETIC RISK; HUMAN BLOOD; ASSOCIATION; MULTIPLE; ARCHITECTURE; PROTOCOL;

D O I：

10.1038/s41586-018-0579-z

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

070301 [无机化学]; 070403 [天体物理学]; 070507 [自然资源与国土空间规划学]; 090105 [作物生产系统与生态工程];

摘要：

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.

引用

页码：203 / +

页数：22

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