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Article

Increased rate of deleterious variants in long runs of homozygosity of an inbred population from Qatar.

Human heredity - 1 Jan 2015

Mezzavilla Massimo, Vozzi Diego, Badii Ramin, Alkowari Moza Khalifa, Abdulhadi Khalid, Girotto Giorgia, Gasparini Paolo

Abstract excerpt

OBJECTIVE: The aim of this study is to evaluate the fraction of putatively deleterious variants within genomic runs of homozygosity (ROH) regions in an inbred and selected cohort of Qatari individuals. METHODS: High-density SNP array analysis was performed in 36 individuals, and for 14 of them whole-exome sequencing (WES) was also carried out. RESULTS: In all individuals, regions characterized by a high (hotspot)...

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PMID: 25720536
DOI: 10.1159/000371387

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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