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Literature DB >> 29335644

Runs of homozygosity: windows into population history and trait architecture.

Francisco C Ceballos^1,2, Peter K Joshi³, David W Clark³, Michèle Ramsay^1,4, James F Wilson^2,3.

Abstract

Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding gives rise to such autozygosity; however, genome-wide data reveal that ROH are universally common in human genomes even among outbred individuals. The number and length of ROH reflect individual demographic history, while the homozygosity burden can be used to investigate the genetic architecture of complex disease. We discuss how to identify ROH in genome-wide microarray and sequence data, their distribution in human populations and their application to the understanding of inbreeding depression and disease risk.

Entities: Chemical

Mesh：

Year: 2018 PMID： 29335644 DOI： 10.1038/nrg.2017.109

Source DB: PubMed Journal: Nat Rev Genet ISSN： 1471-0056 Impact factor: 53.242

129 in total

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