ArticleArchives of medical science : AMS2023
Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.
Article in Archives of medical science : AMS, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Carrier screening and genetic counseling in high-consanguinity populations: a narrative review.Journal of community genetics · 2026Review
- Genodermatosis among the southwestern Saudi population: The pattern and the need for a premarital genetic screening protocol.Saudi medical journal · 2025Article
- Whole-Exome Sequencing Reveals Migraine-Associated Novel Functional Variants in Arab Ancestry Females: A Pilot Study.Brain sciences · 2022Article
- Phenotypic and Genotypic Signatures ofInternational journal of general medicine · 2022Article
- Study of Single Nucleotide Polymorphisms Associated with Breast Cancer Patients among Arab Ancestries.International journal of breast cancer · 2022Article
- Exome Sequencing Identifies the Extremely RareFrontiers in pediatrics · 2022Article
- A Pilot Mitochondrial Genome-Wide Association on Migraine Among Saudi Arabians.International journal of general medicine · 2022Article
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Authors and funding
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Abstract
More than 25 million DNA variations have been discovered as novel including major alleles from the Arab population. Exome studies on the Saudi genome discovered > 3000 novel nucleotide variants associated with > 1200 rare genetic disorders. Reclassification of many pathogenic variants in the Human Gene Mutation Database and ClinVar Database as benign through the Arab database facilitates building a detailed and comprehensive map of the human morbid genome. Intellectual disability comes first with the combined and observed carrier frequency of 0.06779 among Saudi Arabians; retinal dystrophy is the next highest. Genome studies have discovered interesting novel candidate disease marker variations in many genes from consanguineous families. More than 7 pathogenic variants in the
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