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Recovering signals of ghost archaic admixture in the genomes of present-day Africans

View ORCID ProfileArun Durvasula, View ORCID ProfileSriram Sankararaman
doi: https://doi.org/10.1101/285734
Arun Durvasula
1Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles
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  • ORCID record for Arun Durvasula
Sriram Sankararaman
1Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles
2Department of Computer Science, University of California, Los Angeles
3Bioinformatics Interdepartmental Program, University of California, Los Angeles
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  • For correspondence: sriram@cs.ucla.edu
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Abstract

Analyses of Neanderthal and Denisovan genomes have characterized multiple interbreeding events between archaic and modern human populations. While several studies have suggested the presence of deeply diverged lineages in present-day African populations, we lack methods to precisely characterize these introgression events without access to reference archaic genomes. We present a novel reference-free method that combines diverse population genetic summary statistics to identify segments of archaic ancestry in present-day individuals. Using this method, we find that 7.97 ±0.6% of the genetic ancestry from the West African Yoruba population traces its origin to an unidentified, archaic population (FDR ≤20%). We find several loci that harbor archaic ancestry at elevated frequencies and that the archaic ancestry in the Yoruba is reduced near selectively constrained regions of the genome suggesting that archaic admixture has had a systematic impact on the fitness of modern human populations both within and outside of Africa.

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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-NC-ND 4.0 International license.
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Posted March 21, 2018.
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Recovering signals of ghost archaic admixture in the genomes of present-day Africans
Arun Durvasula, Sriram Sankararaman
bioRxiv 285734; doi: https://doi.org/10.1101/285734
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Recovering signals of ghost archaic admixture in the genomes of present-day Africans
Arun Durvasula, Sriram Sankararaman
bioRxiv 285734; doi: https://doi.org/10.1101/285734

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