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 presents a collaborative framework for integrating genome-wide association studies across 23 biobanks from diverse geographic regions and ancestry backgrounds, encompassing over 2.2 million consented individuals with linked electronic health records. This meta-analytical approach validates the feasibility of standardising genotypes and phenotypes across heterogeneous biobank cohorts to improve statistical power for disease discovery. The effort identifies novel disease genes and drug candidates whilst advancing risk prediction models, with implications for understanding the genetic architecture of human diseases across ancestrally diverse populations.

UK applicability

UK biobank data are likely included or could be integrated into future GBMI analyses, making these methods directly applicable to UK-based genetic studies and precision medicine initiatives. The framework's emphasis on diverse ancestry populations may particularly benefit UK health research by improving applicability of genetic findings across the UK's increasingly diverse population.

Key measures

GWAS summary statistics; genomic loci associations with 14 diseases and endpoints; risk prediction performance; disease gene and drug candidate nomination based on gene and protein expression data integration

Outcomes reported

The study meta-analysed genome-wide association study (GWAS) summary statistics from 23 biobanks across 4 continents representing over 2.2 million individuals, examining 14 exemplar diseases and endpoints. The analysis demonstrated the feasibility of integrating GWASs across diverse biobanks despite heterogeneity in case definitions and recruitment strategies, and identified disease genes and drug candidates whilst improving risk prediction.

Theme
Measurement & metrics
Subject
Measurement methods & nutrient profiling
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
BFmovi24gk-p1hgmd

Topic tags

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