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Dating genomic variants and shared ancestry in population-scale sequencing data.


ABSTRACT: The origin and fate of new mutations within species is the fundamental process underlying evolution. However, while much attention has been focused on characterizing the presence, frequency, and phenotypic impact of genetic variation, the evolutionary histories of most variants are largely unexplored. We have developed a nonparametric approach for estimating the date of origin of genetic variants in large-scale sequencing data sets. The accuracy and robustness of the approach is demonstrated through simulation. Using data from two publicly available human genomic diversity resources, we estimated the age of more than 45 million single-nucleotide polymorphisms (SNPs) in the human genome and release the Atlas of Variant Age as a public online database. We characterize the relationship betwee

SUBMITTER: Albers PK 

PROVIDER: S-EPMC6992231 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature