@article{8217d46e5f6346ebb033e9ad4296e80c,
title = "Harmonizing Genetic Ancestry and Self-identified Race/Ethnicity in Genome-wide Association Studies",
abstract = "Large-scale multi-ethnic cohorts offer unprecedented opportunities to elucidate the genetic factors influencing complex traits related to health and disease among minority populations. At the same time, the genetic diversity in these cohorts presents new challenges for analysis and interpretation. We consider the utility of race and/or ethnicity categories in genome-wide association studies (GWASs) of multi-ethnic cohorts. We demonstrate that race/ethnicity information enhances the ability to understand population-specific genetic architecture. To address the practical issue that self-identified racial/ethnic information may be incomplete, we propose a machine learning algorithm that produces a surrogate variable, termed HARE. We use height as a model trait to demonstrate the utility of HARE and ethnicity-specific GWASs.",
keywords = "biobank, ethnicity-specific trait loci, genetic ancestry, multi-ethnic cohort, self-reported race/ethnicity, stratified analysis, trans-ethnic GWAS",
author = "{the VA Million Veteran Program} and Huaying Fang and Qin Hui and Julie Lynch and Jacqueline Honerlaw and Assimes, {Themistocles L.} and Jie Huang and Marijana Vujkovic and Damrauer, {Scott M.} and Saiju Pyarajan and Gaziano, {J. Michael} and DuVall, {Scott L.} and O'Donnell, {Christopher J.} and Kelly Cho and Chang, {Kyong Mi} and Wilson, {Peter W.F.} and Tsao, {Philip S.} and Rachel Ramoni and Jim Breeling and Grant Huang and Sumitra Muralidhar and Jennifer Moser and Whitbourne, {Stacey B.} and Brewer, {Jessica V.} and John Concato and Stuart Warren and Argyres, {Dean P.} and Brady Stephens and Brophy, {Mary T.} and Humphries, {Donald E.} and Nhan Do and Shahpoor Shayan and Nguyen, {Xuan Mai T.} and Elizabeth Hauser and Yan Sun and Hongyu Zhao and Peter Wilson and Rachel McArdle and Louis Dellitalia and John Harley and Jeffrey Whittle and Jean Beckham and John Wells and Salvador Gutierrez and Gretchen Gibson and Laurence Kaminsky and Gerardo Villareal and Scott Kinlay and Junzhe Xu and Mark Hamner and Sujata Bhushan",
note = "Publisher Copyright: {\textcopyright} 2019 American Society of Human Genetics",
year = "2019",
month = oct,
day = "3",
doi = "10.1016/j.ajhg.2019.08.012",
language = "English (US)",
volume = "105",
pages = "763--772",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "4",
}