ArticleScientific reports2018
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Trans-ancestry, Bayesian meta-analysis discovers 20 novel risk loci for inflammatory bowel disease in an African American, East Asian and European cohort.Human molecular genetics · 2023Pooled it
- Disease- and gene-specific deep learning for pathogenicity prediction of rare missense variants in cancer predisposition genes.BioData mining · 2026Article
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- Mitochondrial haplogroup M contributes to asthma risk in the Kuwaiti population.Frontiers in allergy · 2025Article
- A reference quality, fully annotated diploid genome from a Saudi individual.Scientific data · 2024Article
- The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.Science (New York, N.Y.) · 2024Article
- Association of mitochondrial haplogroup H with reduced risk of type 2 Diabetes among Gulf Region Arabs.Frontiers in endocrinology · 2024Article
- Article
- Mitochondrial haplogroup R offers protection against obesity in Kuwaiti and Qatari populations.Frontiers in endocrinology · 2024Article
- Article
- Genome interpretation using in silico predictors of variant impact.Human genetics · 2022Review
- Article
- Unraveling a fine-scale high genetic heterogeneity and recent continental connections of an Arabian Peninsula population.European journal of human genetics : EJHG · 2022Article
- The QChip1 knowledgebase and microarray for precision medicine in Qatar.NPJ genomic medicine · 2022Article
- Genome-wide association study of hospitalized COVID-19 patients in the United Arab Emirates.EBioMedicine · 2021Article
- Relevance between COVID-19 and host genetics of immune response.Saudi journal of biological sciences · 2021Review
- Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes.Nature communications · 2021Article
- A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.Human mutation · 2021Article
- Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population.Human genetics · 2021Article
- Article
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11 authors.
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Abstract
Consanguineous populations of the Arabian Peninsula have been underrepresented in global efforts that catalogue human exome variability. We sequenced 291 whole exomes of unrelated, healthy native Arab individuals from Kuwait to a median coverage of 45X and characterised 170,508 single-nucleotide variants (SNVs), of which 21.7% were 'personal'. Up to 12% of the SNVs were novel and 36% were population-specific. Half of the SNVs were rare and 54% were missense variants. The study complemented the Greater Middle East Variome by way of reporting many additional Arabian exome variants. The study corroborated Kuwaiti population genetic substructures previously derived using genome-wide genotype data and illustrated the genetic relatedness among Kuwaiti population subgroups, Middle Eastern, European and Ashkenazi Jewish populations. The study mapped 112 rare and frequent functional variants relating to pharmacogenomics and disorders (recessive and common) to the phenotypic characteristics of Arab population. Comparative allele frequency data and carrier distributions of known Arab mutations for 23 disorders seen among Arabs, of putative OMIM-listed causal mutations for 12 disorders observed among Arabs but not yet characterized for genetic basis in Arabs, and of 17 additional putative mutations for disorders characterized for genetic basis in Arab populations are presented for testing in future Arab studies.
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