ArticleNature genetics2016
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.
Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 252 papers, 1 of them a synthesis that pooled it.
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Who cites it
252 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genotype-Phenotype Relations for the Dystonia-Parkinsonism GenesInternational journal of molecular sciences · 2025Pooled it
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- Human inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity.medRxiv : the preprint server for health sciences · 2026Article
- National genomic projects in Asia and Africa: a review.Human genomics · 2026Review
- Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.Scientific reports · 2026Article
- Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration.Nature genetics · 2026Article
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- Adaptive admixture at ACKR1, the Duffy blood group locus, may have shaped Plasmodium vivax prevalence in Oman.American journal of human genetics · 2026Article
- A high-coverage Neandertal genome from the Altai Mountains reveals population structure among Neandertals.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Mind the gap: Characterizing bias due to population mismatch in two-sample Mendelian randomization.American journal of human genetics · 2026Article
- The ASPIRE Research Institute Dataset: Building a Foundation for Brain Health Research in the United Arab Emirates.Scientific data · 2026Article
- Severe COVID-19 Unveils Atypical Familial Hemophagocytic Lymphohistiocytosis due to a Novel HomozygousCase reports in immunology · 2026Article
- FivePharmacogenomics and personalized medicine · 2026Article
- Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.medRxiv : the preprint server for health sciences · 2025Article
- Article
- Mind the gap: characterizing bias due to population mismatch in two-sample Mendelian randomization.medRxiv : the preprint server for health sciences · 2025Article
- A draft UAE-based Arab pangenome reference.Nature communications · 2025Article
192 more citing papers are in PubMed but not listed here.
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15 authors.
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Abstract
The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia, has resulted in an elevated burden of recessive disease. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized 'genetic purging'. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics.
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