Article
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
American journal of human genetics - 2 Jul 2020
Popejoy Alice B, Crooks Kristy R, Fullerton Stephanie M, Hindorff Lucia A, Hooker Gillian W, Koenig Barbara A, Pino Natalie, Ramos Erin M, Ritter Deborah I, Wand Hannah, Wright Matt W, Yudell Michael, Zou James Y, Plon Sharon E, Bustamante Carlos D, Ormond Kelly E
Abstract excerpt
Genetics researchers and clinical professionals rely on diversity measures such as race, ethnicity, and ancestry (REA) to stratify study participants and patients for a variety of applications in research and precision medicine. However, there are no comprehensive, widely accepted standards or guidelines for collecting and using such data in clinical genetics practice. Two NIH-funded research consortia, the...
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