Abstract

Genome-wide association studies (GWAS) have laid the foundation for investigations into the biology of complex traits, drug development and clinical guidelines. However, the majority of discovery efforts are based on data from populations of European ancestry, –. In light of the differential genetic architecture that is known to exist between populations, bias in representation can exacerbate existing disease and healthcare disparities. Critical variants may be missed if they have a low frequency or are completely absent in European populations, especially as the field shifts its attention towards rare variants, which are more likely to be population-specific, , , , , –. Additionally, effect sizes and their derived risk prediction scores derived in one population may not accurately extrapolate to other populations,. Here we demonstrate the value of diverse, multi-ethnic participants in large-scale genomic studies. The Population …

Date

June 27, 2019

Authors

Genevieve L Wojcik, Mariaelisa Graff, Katherine K Nishimura, Ran Tao, Jeffrey Haessler, Christopher R Gignoux, Heather M Highland, Yesha M Patel, Elena P Sorokin, Christy L Avery, Gillian M Belbin, Stephanie A Bien, Iona Cheng, Sinead Cullina, Chani J Hodonsky, Yao Hu, Laura M Huckins, Janina Jeff, Anne E Justice, Jonathan M Kocarnik, Unhee Lim, Bridget M Lin, Yingchang Lu, Sarah C Nelson, Sung-Shim L Park, Hannah Poisner, Michael H Preuss, Melissa A Richard, Claudia Schurmann, Veronica W Setiawan, Alexandra Sockell, Karan Vahi, Marie Verbanck, Abhishek Vishnu, Ryan W Walker, Kristin L Young, Niha Zubair, Victor Acuña-Alonso, Jose Luis Ambite, Kathleen C Barnes, Eric Boerwinkle, Erwin P Bottinger, Carlos D Bustamante, Christian Caberto, Samuel Canizales-Quinteros, Matthew P Conomos, Ewa Deelman, Ron Do, Kimberly Doheny, Lindsay Fernández-Rhodes, Myriam Fornage, Benyam Hailu, Gerardo Heiss, Brenna M Henn, Lucia A Hindorff, Rebecca D Jackson, Cecelia A Laurie, Cathy C Laurie, Yuqing Li, Dan-Yu Lin, Andres Moreno-Estrada, Girish Nadkarni, Paul J Norman, Loreall C Pooler, Alexander P Reiner, Jane Romm, Chiara Sabatti, Karla Sandoval, Xin Sheng, Eli A Stahl, Daniel O Stram, Timothy A Thornton, Christina L Wassel, Lynne R Wilkens, Cheryl A Winkler, Sachi Yoneyama, Steven Buyske, Christopher A Haiman, Charles Kooperberg, Loic Le Marchand, Ruth JF Loos, Tara C Matise, Kari E North, Ulrike Peters, Eimear E Kenny, Christopher S Carlson

Journal

Nature

Volume

570

Issue

7762

Pages

514-518

Publisher

Nature Publishing Group UK