ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Genetic ancestry and monogenic disease risk in the Scottish Traveller founder population.Nature communications · 2026Article
- The distribution of regions of homozygosity (ROH) among consanguineous populations-implications for a routine genetic counseling service.Journal of human genetics · 2025Article
- The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.International journal of molecular sciences · 2024Review
- A deep catalog of protein-coding variation in 985,830 individuals.bioRxiv : the preprint server for biology · 2023Article
- Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.Molecular genetics & genomic medicine · 2020Article
- Article
- Article
- A New Look at Familial Risk of Inflammatory Bowel Disease in the Ashkenazi Jewish Population.Digestive diseases and sciences · 2018Article
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Authors and funding
3 authors.
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Abstract
purposeThe aim of the study was to compare the data for mutations related to clinical disorders reported among Ashkenazi Jewish patients in the Israeli National Genetic Database (INGD) with variants included in the Genome Aggregation Database (gnomAD).
methodsWe extracted data for mutations claimed to cause disorders reported among Ashkenazi Jews from the INGD and searched gnomAD for each of them. We compared the allele frequency of each variant in Ashkenazi Jews with that of other delineated populations.
resultsOf the 58 INGD-reported mutations related to autosomal-dominant disorders, 19 were present in gnomAD (32.8%). Of the 309 mutations related to autosomal-recessive disorders, 240 (77.7%) were variants found in gnomAD. Of these variants, 202 (84.2%) were documented among one or more Ashkenazi individuals. At this point in the INGD, there are 168 Ashkenazi assumed founder mutations in 128 different genes corresponding to 111 autosomal-recessive disorders.
conclusionIntegration of information on mutations among Ashkenazi Jews extracted from the INGD with their population frequency recorded in gnomAD is important for effective straightforward molecular diagnosis as well as for targeted carrier screening either for reproductive decision-making or for implementation of disease-modifying behavior.
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