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Article

Long runs of homozygosity are enriched for deleterious variation.

American journal of human genetics - 11 Jul 2013

Szpiech Zachary A, Xu Jishu, Pemberton Trevor J, Peng Weiping, Zöllner Sebastian, Rosenberg Noah A, Li Jun Z

Abstract excerpt

Exome sequencing offers the potential to study the population-genomic variables that underlie patterns of deleterious variation. Runs of homozygosity (ROH) are long stretches of consecutive homozygous genotypes probably reflecting segments shared identically by descent as the result of processes such as consanguinity, population size reduction, and natural selection. The relationship between ROH and patterns of...

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Identifiers

PMID: 23746547
DOI: 10.1016/j.ajhg.2013.05.003
PMCID: PMC3710769

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Source receipt: pubmed, retrieved 7 Sept 2026.

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