Pulse Brain · Growing Health Evidence Index
Tier 1 — Meta-analysis / systematic reviewPeer-reviewed

Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

Wei Zhou, Masahiro Kanai, Kuan-Han Wu, Humaira Rasheed, Kristin Tsuo, Jibril Hirbo, Ying Wang, Arjun Bhattacharya, Huiling Zhao, Shinichi Namba, Ida Surakka, Brooke N. Wolford, Valeria Lo Faro, Esteban A. Lopera-Maya, Kristi Läll, Marie-Julie Favé, Juulia Partanen, Sinéad B. Chapman, Juha Karjalainen, Mitja Kurki, Mutaamba Maasha, Ben Brumpton, Sameer Chavan, Tzu‐Ting Chen, Michelle Daya, Yi Ding, Yen‐Chen Anne Feng, Lindsay Guare, Christopher R. Gignoux, Sarah E. Graham, Whitney Hornsby, Nathan Ingold, Said I. Ismail, Ruth Johnson, Triin Laisk, Kuang Lin, Jun Lv, Iona Y. Millwood, Sonia Moreno–Grau, Kisung Nam, Priit Palta, Anita Pandit, Michael Preuß, Chadi Saad, Shefali Setia-Verma, Unnur Þorsteinsdóttir, Jasmina Uzunović, Anurag Verma, Matthew Zawistowski, Xue Zhong, Nahla Afifi, Kawthar Al-Dabhani, Asma Al Thani, Yuki Bradford, Archie Campbell, Kristy Crooks, Geertruida H. de Bock, Scott M. Damrauer, Nicholas J. Douville, Sarah Finer, Lars G. Fritsche, Eleni Fthenou, Gilberto Gonzalez-Arroyo, Chris Griffiths, Yu Guo, Karen A. Hunt, Alexander Ioannidis, Nomdo M. Jansonius, Takahiro Konuma, Ming Ta Michael Lee, Arturo Lopez-Pineda, Yuta Matsuda, Riccardo E. Marioni, Babak Moatamed, Marco A. Nava-Aguilar, Kensuke Numakura, Snehal Patil, Nicholas Rafaels, Anne Richmond, Agustin Rojas‐Muñoz, Jonathan Shortt, Péter Straub, Ran Tao, Brett Vanderwerff, Manvi Vernekar, Yogasudha Veturi, Kathleen C. Barnes, Marike Boezen, Zhengming Chen, Chia‐Yen Chen, Judy H. Cho, George Davey Smith, Hilary K. Finucane, Lude Franke, Eric R. Gamazon, Andrea Ganna, Tom R. Gaunt, Tian Ge, Hailiang Huang, Jennifer E. Huffman

Cell Genomics · 2022

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Summary

The Global Biobank Meta-analysis Initiative represents a collaborative network integrating genetic and electronic health record data from 23 biobanks spanning four continents and 2.2 million individuals of diverse ancestry. By meta-analysing harmonised GWAS summary statistics across 14 exemplar diseases, the study demonstrates that robust genetic discovery and disease characterisation is feasible despite heterogeneity in case definitions, recruitment strategies, and participant characteristics across biobanks. This work advances disease gene nomination, drug candidate identification, and polygenic risk prediction whilst contributing methodological validation for multi-ancestry collaborative genomics.

UK applicability

The GBMI methodology and findings are directly relevant to UK biobank research infrastructure, particularly UK Biobank and emerging multi-ancestry cohorts. The harmonisation protocols and meta-analytical approaches demonstrated could inform UK-led genetic discovery initiatives and improve risk stratification in UK clinical populations, though application requires attention to representation of non-European ancestry groups within the UK health system.

Key measures

GWAS summary statistics; genomic loci identified; disease gene nominations; drug candidate nominations; risk prediction model performance; genetic discovery across 14 diseases and endpoints

Outcomes reported

The study meta-analysed genome-wide association study (GWAS) summary statistics across 14 exemplar diseases and endpoints using harmonised genotypes and phenotypes from 23 biobanks representing over 2.2 million individuals across four continents. The analysis identified disease genes, nominated drug candidates, and generated risk prediction models whilst characterising the biological underpinnings of human diseases and traits.

Theme
Measurement & metrics
Subject
Other / interdisciplinary
Study type
Meta-analysis
Study design
Meta-analysis
Source type
Peer-reviewed study
Status
Published
Geography
Global
System type
Human clinical
DOI
10.1016/j.xgen.2022.100192
Catalogue ID
BFmou2mfu8-7iqo4j

Topic tags

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