Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field (2023)
Chapter: SECTION I: PAST AND CURRENT USE OF POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH
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SECTION I OVERVIEW
The use of individual and population descriptors in genetics research began with the emergence of human genetics as a science. Despite their importance, historically, such descriptors were never defined, rationalized, used consistently, or standardized. This section explores the early history and context of such descriptors in human genetics, how preferences for certain descriptors have changed over time, and why. Researchers have frequently used descent-associated population descriptors and labels, for individuals or groups, as a shorthand for capturing the continuous and complex patterns of human genetic variation across the globe. Of particular concern is the long-standing and continued use of race, and more recently ethnicity, as this shorthand. Race is a sociopolitically constructed designation, is a misleading and harmful surrogate for genetically based population differences, and has a long history of being incorrectly identified as the major genetic reason for phenotypic differences between groups. Chapters 1 and 2 address this history and consider why these problems have persisted, why another such study is warranted today, and why incorporating different measures of the environment is necessary to improve future genomics studies on traits that involve both genetic and environmental effects.
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