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We present a comprehensive assessment of genomic diversity in the African-American population by studying three genotyped cohorts comprising 3,726 African-Americans from across the United States that provide a representative description of the population across all US states and socioeconomic status. An estimated 82.1% of ancestors to African-Americans lived in Africa prior to the advent of transatlantic travel, 16.7% in Europe, and 1.2% in the Americas, with increased African ancestry in the southern United States compared to the North and West. Combining demographic models of ancestry and those of relatedness suggests that admixture occurred predominantly in the South prior to the Civil War and that ancestry-biased migration is responsible for regional differences in ancestry. We find that recent migrations also caused a strong increase in genetic relatedness among geographically distant African-Americans. Long-range relatedness among African-Americans and between African-Americans and European-Americans thus track north- and west-bound migration routes followed during the Great Migration of the twentieth century. By contrast, short-range relatedness patterns suggest comparable mobility of ∼15–16km per generation for African-Americans and European-Americans, as estimated using a novel analytical model of isolation-by-distance.


Author Summary

Genetic studies of African-Americans identify functional variants, elucidate historical and genealogical mysteries, and reveal basic biology. However, African-Americans have been under-represented in genetic studies, and relatively little is known about nation-wide patterns of genomic diversity in the population. Here, we study African-American genomic diversity using genotype data from nationally and regionally representative cohorts. Access to these unique cohorts allows us to clarify the role of population structure, admixture, and recent massive migrations in shaping African-American genomic diversity and sheds new light on the genetic history of this population.


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