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

Read source ↗ All evidence

Summary

The Global Biobank Meta-analysis Initiative represents a collaborative network integrating genetic and health data from 2.2 million individuals across 23 biobanks on four continents. By harmonising genotypes and phenotypes, the consortium demonstrated that GWAS findings can be reliably integrated across diverse populations despite methodological heterogeneity, thereby improving statistical power for disease discovery and enabling more inclusive risk prediction models. The approach also facilitates gene and drug candidate nomination through incorporation of expression data.

UK applicability

UK biobanks (notably UK Biobank) are likely contributors to or benefit from GBMI's methodology for integrating diverse ancestry populations in genetic discovery. The findings support the value of collaborative meta-analytic approaches to improve representativeness and generalisability of genetic risk models in UK healthcare and research contexts.

Key measures

GWAS summary statistics harmonised across biobanks; disease loci identification; risk prediction performance; 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 (>2.2 million individuals) for 14 exemplar diseases and endpoints. It demonstrated the feasibility of integrating GWASs across diverse biobanks despite heterogeneity in case definitions and recruitment strategies, and improved disease risk prediction and gene nomination.

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
BFmor3gaas-az4bo7

Topic tags

Pulse AI · ask about this record

Dig deeper with Pulse AI.

Pulse AI has read the whole catalogue. Ask about this record, its theme, or how the findings apply to UK farming and policy — every answer cites the underlying studies.