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The Abundance of Harmful Rare Homozygous Variants in Children of Consanguineous Parents

19 Mar 2025

Abstract excerpt

The children born of consanguineous union were found to have a higher incidence of recessive genetic diseases than the offspring of unrelated parents. The reason for this was predicted to be the presence of more deleterious rare homozygous genetic variants in the former compared to the latter. However, the magnitude of this difference is unknown. Using more than 2500 whole genomes, we show here that the...

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PMID: 40136566
DOI: 10.3390/biology14030310

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