ArticleiScience2022
Characterization of Arabian Peninsula whole exomes: Contributing to the catalogue of human diversity.
Article in iScience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Outcomes of sequential keratoplasty for bilateral gelatinous drop-like corneal dystrophy: A case report.Medicine · 2026Article
- AWmeta Empowers Adaptively Weighted Transcriptomic Meta-Analysis.Current issues in molecular biology · 2026Article
- A genomic tale of inbreeding in western Mediterranean human populations.Human genetics · 2025Article
- Prevention and early intervention screening for inherited ocular diseases in Saudi Arabia: a national perspective.Frontiers in ophthalmology · 2025Review
- Ancient genomes illuminate Eastern Arabian population history and adaptation against malaria.Cell genomics · 2024Article
- Genetic polymorphism association ofAmerican journal of translational research · 2024Article
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
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 associated with neurologic diseases and congenital malformations. This burden was significantly and positively correlated with the consanguinity level. These results testify the importance of surveying consanguineous populations where pathogenic variants are not efficiently eliminated by genetic drift.
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