Characterization of Arabian Peninsula whole exomes: Contributing to the catalogue of human diversity.

ABSTRACT: The cataloging of human genomic variation is a challenging task given the size and diversity of the global human population. Several geographic regions remain under-characterized, such as the Arabian Peninsula (AP), which is unique in being at the cross-roads between Africa, Europe and Asia, and hence is a continuous hot-spot for admixture, counteracted by the worldwide highest levels of consanguinity. We conducted whole exome sequencing enriched for untranslated regions (WES + UTRs) on 90 Arabians, and identified a considerable amount of new variants (∼17,000 out of ∼145,000). By applying pathogenic predicting tools, we demonstrated that AP WES have a high burden in potentially deleterious variants, especially in nonsynonymous and UTR variants, and that these are located in genes associat

SUBMITTER: Ferreira JC 

PROVIDER: S-EPMC9619305 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature