Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity.

ABSTRACT: Runs of homozygosity (ROH) are important genomic features that manifest when an individual inherits two haplotypes that are identical by descent. Their length distributions are informative about population history, and their genomic locations are useful for mapping recessive loci contributing to both Mendelian and complex disease risk. We have previously shown that ROH, and especially long ROH that are likely the result of recent parental relatedness, are enriched for homozygous deleterious coding variation in a worldwide sample of outbred individuals. However, the distribution of ROH in admixed populations and their relationship to deleterious homozygous genotypes is understudied. Here we analyze whole-genome sequencing data from 1,441 unrelated individuals from self-identified African Am

SUBMITTER: Szpiech ZA 

PROVIDER: S-EPMC6817522 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature