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New kinship and FST estimates reveal higher levels of differentiation in the global human population

View ORCID ProfileAlejandro Ochoa, View ORCID ProfileJohn D. Storey
doi: https://doi.org/10.1101/653279
Alejandro Ochoa
1Duke Center for Statistical Genetics and Genomics, Duke University, Durham, NC 27705, USA
2Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27705, USA
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  • ORCID record for Alejandro Ochoa
  • For correspondence: alejandro.ochoa@duke.edu jstorey@princeton.edu
John D. Storey
3Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544, USA
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  • ORCID record for John D. Storey
  • For correspondence: alejandro.ochoa@duke.edu jstorey@princeton.edu
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Abstract

Kinship coefficients and FST, which measure genetic relatedness and the overall population structure, respectively, have important biomedical applications. However, existing estimators are only accurate under restrictive conditions that most natural population structures do not satisfy. We recently derived new kinship and FST estimators for arbitrary population structures [1, 2]. Our estimates on human datasets reveal a complex population structure driven by founder effects due to dispersal from Africa and admixture. Notably, our new approach estimates larger FST values of 26% for native worldwide human populations and 23% for admixed Hispanic individuals, whereas the existing approach estimates 9.8% and 2.6%, respectively. While previous work correctly measured FST between subpopulation pairs, our generalized FST measures genetic distances among all individuals and their most recent common ancestor (MRCA) population, revealing that genetic differentiation is greater than previously appreciated. This analysis demonstrates that estimating kinship and FST under more realistic assumptions is important for modern population genetic analysis.

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  • https://github.com/StoreyLab/human_differentiation_analysis

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-ND 4.0 International license.
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Posted May 30, 2019.
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New kinship and FST estimates reveal higher levels of differentiation in the global human population
Alejandro Ochoa, John D. Storey
bioRxiv 653279; doi: https://doi.org/10.1101/653279
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New kinship and FST estimates reveal higher levels of differentiation in the global human population
Alejandro Ochoa, John D. Storey
bioRxiv 653279; doi: https://doi.org/10.1101/653279

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