ArticleGenome biology2016
Revisiting the morbid genome of Mendelian disorders.
Article in Genome biology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed.
- Integrating genomic medicine into primary care: a precision health model from Riyadh, Saudi Arabia.Family medicine and community health · 2026Article
- The future of personalized medicine in Saudi Arabia: Opportunities and challenges.Saudi medical journal · 2025Review
- Challenging Diagnosis of a Patient with Two Novel Variants in theInternational journal of molecular sciences · 2024Article
- Clinical and Genetic Analysis of Patients With TK2 Deficiency.Neurology. Genetics · 2024Article
- Lung biopsy in infants with severe bronchopulmonary dysplasia.Pediatric pulmonology · 2023Article
- Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.Archives of medical science : AMS · 2023Article
- Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database.Frontiers in genetics · 2023Article
- Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.International journal of molecular sciences · 2022Article
- Never-homozygous genetic variants in healthy populations are potential recessive disease candidates.NPJ genomic medicine · 2022Article
- Variant Curation is Crucial to Claim Digenic Inheritance in Juvenile Open Angle Glaucoma.Global medical genetics · 2022Article
- Genetic data sharing and artificial intelligence in the era of personalized medicine based on a cross-sectional analysis of the Saudi human genome program.Scientific reports · 2022Article
- The different clinical facets ofFrontiers in cell and developmental biology · 2022Article
- PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.Human mutation · 2021Article
- Article
- The genetic structure of the Turkish population reveals high levels of variation and admixture.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.Human genomics · 2021Article
- ASHG 2020 Curt Stern Award introduction: Fowzan Sami Alkuraya.American journal of human genetics · 2021Article
- 2020 Curt Stern Award address: a more perfect clinical genome-how consanguineous populations contribute to the medical annotation of the human genome.American journal of human genetics · 2021Article
- Mutations inJournal of the American Society of Nephrology : JASN · 2021Article
- WDR34, a candidate gene for non-syndromic rod-cone dystrophy.Clinical genetics · 2021Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe pathogenicity of many Mendelian variants has been challenged by large-scale sequencing efforts. However, many rare and benign "disease mutations" are difficult to analyze due to their rarity. The Saudi Arabian variome is enriched for homozygosity due to inbreeding, a key advantage that can be exploited for the critical examination of previously published variants.
resultsWe collated all "disease-related mutations" listed in the Human Gene Mutation Database (HGMD) and ClinVar, including "variants of uncertain significance" (VOUS). We find that the use of public databases including 1000 Genomes, ExAC, and Kaviar can reclassify many of these variants as likely benign. Our Saudi Human Genome Program (SHGP) can reclassify many variants that are rare in public databases. Furthermore, SGPD allows us to observe many previously reported variants in the homozygous state and our extensive phenotyping of participants makes it possible to demonstrate the lack of phenotype for these variants, thus challenging their pathogenicity despite their rarity. We also find that 18 VOUS BRCA1 and BRCA2 variants that are listed in BRCA Exchange are present at least once in the homozygous state in patients who lack features of Fanconi anemia. Reassuringly, we could reciprocally demonstrate that none of those labeled as "pathogenic" were observed in the homozygous statue in individuals who lack Fanconi phenotype in our database.
conclusionOur study shows the importance of revisiting disease-related databases using public resources as well as of population-specific resources to improve the specificity of the morbid genome of Mendelian diseases in humans.
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