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Age distributions of rare lineages reveal recent demographic history and selection

Alexander Platt, Jody Hey
doi: https://doi.org/10.1101/265900
Alexander Platt
1Temple University, Center for Computational Genetics and Genomics, Philadelphia, PA 19122
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Jody Hey
1Temple University, Center for Computational Genetics and Genomics, Philadelphia, PA 19122
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ABSTRACT

The age of an allele of a given frequency offers insight into both its function and origin, and the distribution of ages of alleles in a population conveys significant information about its history. The rarer the allele the more likely it is to reveal functional biological insight and the more recent the historical revelation. By measuring the length of the haplotype shared between an individual carrying a rare variant and its closest relative not carrying the variant we are able to approximate the age of the variant and can apply this method even when only a single copy of a variant has been sampled in a population. Applying this technique to rare variants in a large population sample from the United Kingdom, we identify historical migration from West Africa approximately 400 years ago, evidence of direct selection against novel protein-altering rare variants in individual biological pathways, continued negative frequency dependent selection on protein-altering variants in olfactory transducers and the innate immune system, and map the impact of background selection on the most recent portions of the sample genealogy.

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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 February 15, 2018.
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Age distributions of rare lineages reveal recent demographic history and selection
Alexander Platt, Jody Hey
bioRxiv 265900; doi: https://doi.org/10.1101/265900
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Age distributions of rare lineages reveal recent demographic history and selection
Alexander Platt, Jody Hey
bioRxiv 265900; doi: https://doi.org/10.1101/265900

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