Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
Wei Zhou(Broad Institute), Masahiro Kanai(Broad Institute), Kuan-Han Wu(University of Michigan), Humaira Rasheed(University of Oslo), Kristin Tsuo(Broad Institute), Jibril Hirbo(Vanderbilt University Medical Center), Ying Wang(Broad Institute), Arjun Bhattacharya(University of California, Los Angeles), Huiling Zhao(University of Bristol), Shinichi Namba(The University of Osaka), Ida Surakka(University of Michigan), Brooke N. Wolford(Norwegian University of Science and Technology), Valeria Lo Faro(Uppsala University), Esteban A. Lopera-Maya(University of Groningen), Kristi Läll(University of Tartu), Marie-Julie Favé(Ontario Institute for Cancer Research), Juulia Partanen(University of Helsinki), Sinéad B. Chapman(Broad Institute), Juha Karjalainen(Broad Institute), Mitja Kurki(Broad Institute), Mutaamba Maasha(Broad Institute), Ben Brumpton(Norwegian University of Science and Technology), Sameer Chavan(University of Colorado Anschutz Medical Campus), Tzu‐Ting Chen(National Health Research Institutes), Michelle Daya(University of Colorado Anschutz Medical Campus), Yi Ding(Broad Institute), Yen‐Chen Anne Feng(National Taiwan University), Lindsay Guare(University of Pennsylvania), Christopher R. Gignoux(University of Colorado Anschutz Medical Campus), Sarah E. Graham(University of Michigan), Whitney Hornsby(University of Michigan), Nathan Ingold(Queensland University of Technology), Said I. Ismail(Qatar Foundation), Ruth Johnson(University of California, Los Angeles), Triin Laisk(University of Tartu), Kuang Lin(University of Bristol), Jun Lv(University of California, Los Angeles), Iona Y. Millwood(University of Oxford), Sonia Moreno–Grau, Kisung Nam(Seoul National University), Priit Palta(University of Helsinki), Anita Pandit(University of Michigan), Michael Preuß(Icahn School of Medicine at Mount Sinai), Chadi Saad(Qatar Foundation), Shefali Setia-Verma(University of Pennsylvania), Unnur Þorsteinsdóttir(deCODE Genetics (Iceland)), Jasmina Uzunović(Ontario Institute for Cancer Research), Anurag Verma(Philadelphia VA Medical Center), Matthew Zawistowski(University of Michigan), Xue Zhong(Vanderbilt University Medical Center), Nahla Afifi(Qatar Foundation), Kawthar Al-Dabhani(Qatar Foundation), Asma Al Thani(Qatar Foundation), Yuki Bradford(University of Pennsylvania), Archie Campbell(Edinburgh Cancer Research), Kristy Crooks(University of Colorado Anschutz Medical Campus), Geertruida H. de Bock(University Medical Center Groningen), Scott M. Damrauer(Queen Mary University of London), Nicholas J. Douville(deCODE Genetics (Iceland)), Sarah Finer(deCODE Genetics (Iceland)), Lars G. Fritsche(University of Michigan), Eleni Fthenou(Qatar Foundation), Gilberto Gonzalez-Arroyo(Universidad de Morelia), Chris Griffiths(deCODE Genetics (Iceland)), Yu Guo(deCODE Genetics (Iceland)), Karen A. Hunt(deCODE Genetics (Iceland)), Alexander Ioannidis(Stanford University), Nomdo M. Jansonius(University of Groningen), Takahiro Konuma(Japan Tobacco (Japan)), Ming Ta Michael Lee, Arturo Lopez-Pineda(Universidad de Morelia), Yuta Matsuda(NewLink Genetics (United States)), Riccardo E. Marioni(Edinburgh Cancer Research), Babak Moatamed, Marco A. Nava-Aguilar(Universidad de Morelia), Kensuke Numakura(NewLink Genetics (United States)), Snehal Patil(University of Michigan), Nicholas Rafaels(University of Colorado Anschutz Medical Campus), Anne Richmond(Institute of Genetics and Cancer), Agustin Rojas‐Muñoz, Jonathan Shortt(University of Colorado Anschutz Medical Campus), Péter Straub(Vanderbilt University Medical Center), Ran Tao(Vanderbilt University Medical Center), Brett Vanderwerff(deCODE Genetics (Iceland)), Manvi Vernekar(NewLink Genetics (United States)), Yogasudha Veturi(University of Pennsylvania), Kathleen C. Barnes(University of Colorado Anschutz Medical Campus), Marike Boezen(University Medical Center Groningen), Zhengming Chen(University of Oxford), Chia‐Yen Chen(Biogen (United States)), Judy H. Cho(Icahn School of Medicine at Mount Sinai), George Davey Smith(University of Bristol), Hilary K. Finucane(Broad Institute), Lude Franke(University of Groningen), Eric R. Gamazon(University of Cambridge), Andrea Ganna(Broad Institute), Tom R. Gaunt(University of Bristol), Tian Ge(deCODE Genetics (Iceland)), Hailiang Huang(Broad Institute), Jennifer E. Huffman(deCODE Genetics (Iceland)), Nicholas Katsanis, Jukka Koskela(University of Helsinki), Clara Lajonchere(deCODE Genetics (Iceland)), Matthew H. Law(Queensland University of Technology), Liming Li(University of Helsinki), Cecilia M. Lindgren(deCODE Genetics (Iceland)), Ruth J. F. Loos(Novo Nordisk Foundation), Stuart MacGregor(QIMR Berghofer Medical Research Institute), Koichi Matsuda(deCODE Genetics (Iceland)), Catherine M. Olsen(QIMR Berghofer Medical Research Institute), David J. Porteous(Edinburgh Cancer Research), Jordan A. Shavit(deCODE Genetics (Iceland)), Harold Snieder(University Medical Center Groningen), Tomohiro Takano(NewLink Genetics (United States)), Richard C. Trembath(deCODE Genetics (Iceland)), Judith M. Vonk(University Medical Center Groningen), David C. Whiteman(QIMR Berghofer Medical Research Institute), Stephen J. Wicks(University of Colorado Anschutz Medical Campus), Cisca Wijmenga(University of Groningen), John Wright(National Health Service), Jie Zheng(University of Bristol), Xiang Zhou(Broad Institute), Philip Awadalla(Ontario Institute for Cancer Research), Michael Boehnke(deCODE Genetics (Iceland)), Carlos D. Bustamante(Chan Zuckerberg Initiative (United States)), Nancy J. Cox(Vanderbilt University Medical Center), Segun Fatumo(deCODE Genetics (Iceland)), Daniel H. Geschwind(deCODE Genetics (Iceland)), Caroline Hayward(deCODE Genetics (Iceland)), Kristian Hveem(Norwegian University of Science and Technology), Eimear E. Kenny(deCODE Genetics (Iceland)), Seunggeun Lee(Seoul National University), Kuang Lin(National Yang Ming Chiao Tung University), Hamdi Mbarek(Qatar Foundation), Reedik Mägi(University of Tartu), Hilary C. Martin(deCODE Genetics (Iceland)), Sarah E. Medland(QIMR Berghofer Medical Research Institute), Yukinori Okada(RIKEN Center for Integrative Medical Sciences), Aarno Palotie(Broad Institute), Bogdan Paşaniuc(University of California, Los Angeles), Daniel J. Rader(University of Pennsylvania), Marylyn D. Ritchie(University of Pennsylvania), Serena Sanna(University of Groningen), Jordan W. Smoller(deCODE Genetics (Iceland)), Kāri Stefánsson(deCODE Genetics (Iceland)), David A. van Heel(deCODE Genetics (Iceland)), Robin Walters(University of Oxford), Sebastian Zöllner(University of Michigan), Alicia R. Martin(Broad Institute), Cristen J. Willer(University of Michigan), Mark J. Daly(Broad Institute), Benjamin M. Neale(Broad Institute)
Cited by 398Open Access
Abstract
Biobanks facilitate genome-wide association studies (GWASs), which have mapped genomic loci across a range of human diseases and traits. However, most biobanks are primarily composed of individuals of European ancestry. We introduce the Global Biobank Meta-analysis Initiative (GBMI)-a collaborative network of 23 biobanks from 4 continents representing more than 2.2 million consented individuals with genetic data linked to electronic health records. GBMI meta-analyzes summary statistics from GWASs generated using harmonized genotypes and phenotypes from member biobanks for 14 exemplar diseases and endpoints. This strategy validates that GWASs conducted in diverse biobanks can be integrated despite heterogeneity in case definitions, recruitment strategies, and baseline characteristics. This collaborative effort improves GWAS power for diseases, benefits understudied diseases, and improves risk prediction while also enabling the nomination of disease genes and drug candidates by incorporating gene and protein expression data and providing insight into the underlying biology of human diseases and traits.
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