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Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
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...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9903716/ https://www.ncbi.nlm.nih.gov/pubmed/36777996 http://dx.doi.org/10.1016/j.xgen.2022.100192 |
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author | Zhou, Wei Kanai, Masahiro Wu, Kuan-Han H. Rasheed, Humaira Tsuo, Kristin Hirbo, Jibril B. Wang, Ying Bhattacharya, Arjun Zhao, Huiling Namba, Shinichi Surakka, Ida Wolford, Brooke N. Lo Faro, Valeria Lopera-Maya, Esteban A. Läll, Kristi Favé, Marie-Julie Partanen, Juulia J. Chapman, Sinéad B. Karjalainen, Juha Kurki, Mitja Maasha, Mutaamba Brumpton, Ben M. Chavan, Sameer Chen, Tzu-Ting Daya, Michelle Ding, Yi Feng, Yen-Chen A. Guare, Lindsay A. Gignoux, Christopher R. Graham, Sarah E. Hornsby, Whitney E. Ingold, Nathan Ismail, Said I. Johnson, Ruth Laisk, Triin Lin, Kuang Lv, Jun Millwood, Iona Y. Moreno-Grau, Sonia Nam, Kisung Palta, Priit Pandit, Anita Preuss, Michael H. Saad, Chadi Setia-Verma, Shefali Thorsteinsdottir, Unnur Uzunovic, Jasmina Verma, Anurag Zawistowski, Matthew Zhong, Xue Afifi, Nahla Al-Dabhani, Kawthar M. Al Thani, Asma Bradford, Yuki Campbell, Archie Crooks, Kristy de Bock, Geertruida H. Damrauer, Scott M. Douville, Nicholas J. Finer, Sarah Fritsche, Lars G. Fthenou, Eleni Gonzalez-Arroyo, Gilberto Griffiths, Christopher J. Guo, Yu Hunt, Karen A. Ioannidis, Alexander Jansonius, Nomdo M. Konuma, Takahiro Lee, Ming Ta Michael Lopez-Pineda, Arturo Matsuda, Yuta Marioni, Riccardo E. Moatamed, Babak Nava-Aguilar, Marco A. Numakura, Kensuke Patil, Snehal Rafaels, Nicholas Richmond, Anne Rojas-Muñoz, Agustin Shortt, Jonathan A. Straub, Peter Tao, Ran Vanderwerff, Brett Vernekar, Manvi Veturi, Yogasudha Barnes, Kathleen C. Boezen, Marike Chen, Zhengming Chen, Chia-Yen Cho, Judy Smith, George Davey Finucane, Hilary K. Franke, Lude Gamazon, Eric R. Ganna, Andrea Gaunt, Tom R. Ge, Tian Huang, Hailiang Huffman, Jennifer Katsanis, Nicholas Koskela, Jukka T. Lajonchere, Clara Law, Matthew H. Li, Liming Lindgren, Cecilia M. Loos, Ruth J.F. MacGregor, Stuart Matsuda, Koichi Olsen, Catherine M. Porteous, David J. Shavit, Jordan A. Snieder, Harold Takano, Tomohiro Trembath, Richard C. Vonk, Judith M. Whiteman, David C. Wicks, Stephen J. Wijmenga, Cisca Wright, John Zheng, Jie Zhou, Xiang Awadalla, Philip Boehnke, Michael Bustamante, Carlos D. Cox, Nancy J. Fatumo, Segun Geschwind, Daniel H. Hayward, Caroline Hveem, Kristian Kenny, Eimear E. Lee, Seunggeun Lin, Yen-Feng Mbarek, Hamdi Mägi, Reedik Martin, Hilary C. Medland, Sarah E. Okada, Yukinori Palotie, Aarno V. Pasaniuc, Bogdan Rader, Daniel J. Ritchie, Marylyn D. Sanna, Serena Smoller, Jordan W. Stefansson, Kari van Heel, David A. Walters, Robin G. Zöllner, Sebastian Martin, Alicia R. Willer, Cristen J. Daly, Mark J. Neale, Benjamin M. |
author_facet | Zhou, Wei Kanai, Masahiro Wu, Kuan-Han H. Rasheed, Humaira Tsuo, Kristin Hirbo, Jibril B. Wang, Ying Bhattacharya, Arjun Zhao, Huiling Namba, Shinichi Surakka, Ida Wolford, Brooke N. Lo Faro, Valeria Lopera-Maya, Esteban A. Läll, Kristi Favé, Marie-Julie Partanen, Juulia J. Chapman, Sinéad B. Karjalainen, Juha Kurki, Mitja Maasha, Mutaamba Brumpton, Ben M. Chavan, Sameer Chen, Tzu-Ting Daya, Michelle Ding, Yi Feng, Yen-Chen A. Guare, Lindsay A. Gignoux, Christopher R. Graham, Sarah E. Hornsby, Whitney E. Ingold, Nathan Ismail, Said I. Johnson, Ruth Laisk, Triin Lin, Kuang Lv, Jun Millwood, Iona Y. Moreno-Grau, Sonia Nam, Kisung Palta, Priit Pandit, Anita Preuss, Michael H. Saad, Chadi Setia-Verma, Shefali Thorsteinsdottir, Unnur Uzunovic, Jasmina Verma, Anurag Zawistowski, Matthew Zhong, Xue Afifi, Nahla Al-Dabhani, Kawthar M. Al Thani, Asma Bradford, Yuki Campbell, Archie Crooks, Kristy de Bock, Geertruida H. Damrauer, Scott M. Douville, Nicholas J. Finer, Sarah Fritsche, Lars G. Fthenou, Eleni Gonzalez-Arroyo, Gilberto Griffiths, Christopher J. Guo, Yu Hunt, Karen A. Ioannidis, Alexander Jansonius, Nomdo M. Konuma, Takahiro Lee, Ming Ta Michael Lopez-Pineda, Arturo Matsuda, Yuta Marioni, Riccardo E. Moatamed, Babak Nava-Aguilar, Marco A. Numakura, Kensuke Patil, Snehal Rafaels, Nicholas Richmond, Anne Rojas-Muñoz, Agustin Shortt, Jonathan A. Straub, Peter Tao, Ran Vanderwerff, Brett Vernekar, Manvi Veturi, Yogasudha Barnes, Kathleen C. Boezen, Marike Chen, Zhengming Chen, Chia-Yen Cho, Judy Smith, George Davey Finucane, Hilary K. Franke, Lude Gamazon, Eric R. Ganna, Andrea Gaunt, Tom R. Ge, Tian Huang, Hailiang Huffman, Jennifer Katsanis, Nicholas Koskela, Jukka T. Lajonchere, Clara Law, Matthew H. Li, Liming Lindgren, Cecilia M. Loos, Ruth J.F. MacGregor, Stuart Matsuda, Koichi Olsen, Catherine M. Porteous, David J. Shavit, Jordan A. Snieder, Harold Takano, Tomohiro Trembath, Richard C. Vonk, Judith M. Whiteman, David C. Wicks, Stephen J. Wijmenga, Cisca Wright, John Zheng, Jie Zhou, Xiang Awadalla, Philip Boehnke, Michael Bustamante, Carlos D. Cox, Nancy J. Fatumo, Segun Geschwind, Daniel H. Hayward, Caroline Hveem, Kristian Kenny, Eimear E. Lee, Seunggeun Lin, Yen-Feng Mbarek, Hamdi Mägi, Reedik Martin, Hilary C. Medland, Sarah E. Okada, Yukinori Palotie, Aarno V. Pasaniuc, Bogdan Rader, Daniel J. Ritchie, Marylyn D. Sanna, Serena Smoller, Jordan W. Stefansson, Kari van Heel, David A. Walters, Robin G. Zöllner, Sebastian Martin, Alicia R. Willer, Cristen J. Daly, Mark J. Neale, Benjamin M. |
author_sort | Zhou, Wei |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9903716 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-99037162023-02-10 Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease Zhou, Wei Kanai, Masahiro Wu, Kuan-Han H. Rasheed, Humaira Tsuo, Kristin Hirbo, Jibril B. Wang, Ying Bhattacharya, Arjun Zhao, Huiling Namba, Shinichi Surakka, Ida Wolford, Brooke N. Lo Faro, Valeria Lopera-Maya, Esteban A. Läll, Kristi Favé, Marie-Julie Partanen, Juulia J. Chapman, Sinéad B. Karjalainen, Juha Kurki, Mitja Maasha, Mutaamba Brumpton, Ben M. Chavan, Sameer Chen, Tzu-Ting Daya, Michelle Ding, Yi Feng, Yen-Chen A. Guare, Lindsay A. Gignoux, Christopher R. Graham, Sarah E. Hornsby, Whitney E. Ingold, Nathan Ismail, Said I. Johnson, Ruth Laisk, Triin Lin, Kuang Lv, Jun Millwood, Iona Y. Moreno-Grau, Sonia Nam, Kisung Palta, Priit Pandit, Anita Preuss, Michael H. Saad, Chadi Setia-Verma, Shefali Thorsteinsdottir, Unnur Uzunovic, Jasmina Verma, Anurag Zawistowski, Matthew Zhong, Xue Afifi, Nahla Al-Dabhani, Kawthar M. Al Thani, Asma Bradford, Yuki Campbell, Archie Crooks, Kristy de Bock, Geertruida H. Damrauer, Scott M. Douville, Nicholas J. Finer, Sarah Fritsche, Lars G. Fthenou, Eleni Gonzalez-Arroyo, Gilberto Griffiths, Christopher J. Guo, Yu Hunt, Karen A. Ioannidis, Alexander Jansonius, Nomdo M. Konuma, Takahiro Lee, Ming Ta Michael Lopez-Pineda, Arturo Matsuda, Yuta Marioni, Riccardo E. Moatamed, Babak Nava-Aguilar, Marco A. Numakura, Kensuke Patil, Snehal Rafaels, Nicholas Richmond, Anne Rojas-Muñoz, Agustin Shortt, Jonathan A. Straub, Peter Tao, Ran Vanderwerff, Brett Vernekar, Manvi Veturi, Yogasudha Barnes, Kathleen C. Boezen, Marike Chen, Zhengming Chen, Chia-Yen Cho, Judy Smith, George Davey Finucane, Hilary K. Franke, Lude Gamazon, Eric R. Ganna, Andrea Gaunt, Tom R. Ge, Tian Huang, Hailiang Huffman, Jennifer Katsanis, Nicholas Koskela, Jukka T. Lajonchere, Clara Law, Matthew H. Li, Liming Lindgren, Cecilia M. Loos, Ruth J.F. MacGregor, Stuart Matsuda, Koichi Olsen, Catherine M. Porteous, David J. Shavit, Jordan A. Snieder, Harold Takano, Tomohiro Trembath, Richard C. Vonk, Judith M. Whiteman, David C. Wicks, Stephen J. Wijmenga, Cisca Wright, John Zheng, Jie Zhou, Xiang Awadalla, Philip Boehnke, Michael Bustamante, Carlos D. Cox, Nancy J. Fatumo, Segun Geschwind, Daniel H. Hayward, Caroline Hveem, Kristian Kenny, Eimear E. Lee, Seunggeun Lin, Yen-Feng Mbarek, Hamdi Mägi, Reedik Martin, Hilary C. Medland, Sarah E. Okada, Yukinori Palotie, Aarno V. Pasaniuc, Bogdan Rader, Daniel J. Ritchie, Marylyn D. Sanna, Serena Smoller, Jordan W. Stefansson, Kari van Heel, David A. Walters, Robin G. Zöllner, Sebastian Martin, Alicia R. Willer, Cristen J. Daly, Mark J. Neale, Benjamin M. Cell Genom Article 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. Elsevier 2022-10-12 /pmc/articles/PMC9903716/ /pubmed/36777996 http://dx.doi.org/10.1016/j.xgen.2022.100192 Text en © 2022. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Article Zhou, Wei Kanai, Masahiro Wu, Kuan-Han H. Rasheed, Humaira Tsuo, Kristin Hirbo, Jibril B. Wang, Ying Bhattacharya, Arjun Zhao, Huiling Namba, Shinichi Surakka, Ida Wolford, Brooke N. Lo Faro, Valeria Lopera-Maya, Esteban A. Läll, Kristi Favé, Marie-Julie Partanen, Juulia J. Chapman, Sinéad B. Karjalainen, Juha Kurki, Mitja Maasha, Mutaamba Brumpton, Ben M. Chavan, Sameer Chen, Tzu-Ting Daya, Michelle Ding, Yi Feng, Yen-Chen A. Guare, Lindsay A. Gignoux, Christopher R. Graham, Sarah E. Hornsby, Whitney E. Ingold, Nathan Ismail, Said I. Johnson, Ruth Laisk, Triin Lin, Kuang Lv, Jun Millwood, Iona Y. Moreno-Grau, Sonia Nam, Kisung Palta, Priit Pandit, Anita Preuss, Michael H. Saad, Chadi Setia-Verma, Shefali Thorsteinsdottir, Unnur Uzunovic, Jasmina Verma, Anurag Zawistowski, Matthew Zhong, Xue Afifi, Nahla Al-Dabhani, Kawthar M. Al Thani, Asma Bradford, Yuki Campbell, Archie Crooks, Kristy de Bock, Geertruida H. Damrauer, Scott M. Douville, Nicholas J. Finer, Sarah Fritsche, Lars G. Fthenou, Eleni Gonzalez-Arroyo, Gilberto Griffiths, Christopher J. Guo, Yu Hunt, Karen A. Ioannidis, Alexander Jansonius, Nomdo M. Konuma, Takahiro Lee, Ming Ta Michael Lopez-Pineda, Arturo Matsuda, Yuta Marioni, Riccardo E. Moatamed, Babak Nava-Aguilar, Marco A. Numakura, Kensuke Patil, Snehal Rafaels, Nicholas Richmond, Anne Rojas-Muñoz, Agustin Shortt, Jonathan A. Straub, Peter Tao, Ran Vanderwerff, Brett Vernekar, Manvi Veturi, Yogasudha Barnes, Kathleen C. Boezen, Marike Chen, Zhengming Chen, Chia-Yen Cho, Judy Smith, George Davey Finucane, Hilary K. Franke, Lude Gamazon, Eric R. Ganna, Andrea Gaunt, Tom R. Ge, Tian Huang, Hailiang Huffman, Jennifer Katsanis, Nicholas Koskela, Jukka T. Lajonchere, Clara Law, Matthew H. Li, Liming Lindgren, Cecilia M. Loos, Ruth J.F. MacGregor, Stuart Matsuda, Koichi Olsen, Catherine M. Porteous, David J. Shavit, Jordan A. Snieder, Harold Takano, Tomohiro Trembath, Richard C. Vonk, Judith M. Whiteman, David C. Wicks, Stephen J. Wijmenga, Cisca Wright, John Zheng, Jie Zhou, Xiang Awadalla, Philip Boehnke, Michael Bustamante, Carlos D. Cox, Nancy J. Fatumo, Segun Geschwind, Daniel H. Hayward, Caroline Hveem, Kristian Kenny, Eimear E. Lee, Seunggeun Lin, Yen-Feng Mbarek, Hamdi Mägi, Reedik Martin, Hilary C. Medland, Sarah E. Okada, Yukinori Palotie, Aarno V. Pasaniuc, Bogdan Rader, Daniel J. Ritchie, Marylyn D. Sanna, Serena Smoller, Jordan W. Stefansson, Kari van Heel, David A. Walters, Robin G. Zöllner, Sebastian Martin, Alicia R. Willer, Cristen J. Daly, Mark J. Neale, Benjamin M. Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease |
title | Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease |
title_full | Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease |
title_fullStr | Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease |
title_full_unstemmed | Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease |
title_short | Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease |
title_sort | global biobank meta-analysis initiative: powering genetic discovery across human disease |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9903716/ https://www.ncbi.nlm.nih.gov/pubmed/36777996 http://dx.doi.org/10.1016/j.xgen.2022.100192 |
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globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT leeseunggeun globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT linyenfeng globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT mbarekhamdi globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT magireedik globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT martinhilaryc globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT medlandsarahe globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT okadayukinori globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT palotieaarnov globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT pasaniucbogdan globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT raderdanielj globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT ritchiemarylynd globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT sannaserena globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT smollerjordanw globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT stefanssonkari globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT vanheeldavida globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT waltersrobing globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT zollnersebastian globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT martinaliciar globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT willercristenj globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT dalymarkj globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease AT nealebenjaminm globalbiobankmetaanalysisinitiativepoweringgeneticdiscoveryacrosshumandisease |