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      Harmonizing Genetic Ancestry and Self-identified Race/Ethnicity in Genome-wide Association Studies

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      The American Journal of Human Genetics
      Elsevier BV

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          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.

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          Author and article information

          Journal
          The American Journal of Human Genetics
          The American Journal of Human Genetics
          Elsevier BV
          00029297
          October 2019
          October 2019
          : 105
          : 4
          : 763-772
          Article
          10.1016/j.ajhg.2019.08.012
          6817526
          31564439
          bdda4a65-624a-45a7-b847-c79831874c07
          © 2019

          https://www.elsevier.com/tdm/userlicense/1.0/

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