The distribution of regions of homozygosity (ROH) among consanguineous populations-implications for a routine genetic counseling service

Regions of homozygosity (ROH) increase the risk of recessive disorders, and guidelines recommend reporting of excessive ROH in prenatal testing. However, ROH are common in populations that practice endogamy or consanguinity, and cutoffs for reporting ROH in such populations may not be evidence-based...

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Veröffentlicht in:Journal of human genetics 2024-11
Hauptverfasser: Gafni-Amsalem, Chen, Warwar, Nasim, Khayat, Morad, Tatour, Yasmin, Abuleil-Zuabi, Olfat, Campisi-Pinto, Salvatore, Carmi, Shai, Shalev, Stavit A
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Sprache:eng
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