ArticleJournal of human genetics2017
al mena: a comprehensive resource of human genetic variants integrating genomes and exomes from Arab, Middle Eastern and North African populations.
Article in Journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 31 citations in OpenAlex.
- Case Report: A novel homozygous splice-site variant in theFrontiers in immunology · 2026Article
- Founder mutations and rare disease in the Arab world.Disease models & mechanisms · 2024Review
- Health inequity in genomic personalized medicine in underrepresented populations: a look at the current evidence.Functional & integrative genomics · 2023Review
- Case report: Birk-Landau-Perez syndrome linked to theFrontiers in genetics · 2023Article
- Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database.Frontiers in genetics · 2023Article
- The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.Scientific reports · 2022Article
- Genomic data integration and user-defined sample-set extraction for population variant analysis.BMC bioinformatics · 2022Article
- Pharmacogenomic landscape of COVID-19 therapies from Indian population genomes.Pharmacogenomics · 2021Article
- Article
- A Novel Splice-Site Variant inJournal of pediatric genetics · 2020Article
- Genomics of rare genetic diseases-experiences from India.Human genomics · 2019Review
- Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar.Molecular genetics and genomics : MGG · 2018Article
- Building cross-border collaborations to increase diversity and accelerate rare disease drug development - meeting report from the inaugural IndoUSrare Annual Conference 2021.Therapeutic advances in rare diseaseReview
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Middle East and North Africa (MENA) encompass very unique populations, with a rich history and encompasses characteristic ethnic, linguistic and genetic diversity. The genetic diversity of MENA region has been largely unknown. The recent availability of whole-exome and whole-genome sequences from the region has made it possible to collect population-specific allele frequencies. The integration of data sets from this region would provide insights into the landscape of genetic variants in this region. We integrated genetic variants from multiple data sets systematically, available from this region to create a compendium of over 26 million genetic variations. The variants were systematically annotated and their allele frequencies in the data sets were computed and available as a web interface which enables quick query. As a proof of principle for application of the compendium for genetic epidemiology, we analyzed the allele frequencies for variants in transglutaminase 1 (TGM1) gene, associated with autosomal recessive lamellar ichthyosis. Our analysis revealed that the carrier frequency of selected variants differed widely with significant interethnic differences. To the best of our knowledge, al mena is the first and most comprehensive repertoire of genetic variations from the Arab, Middle Eastern and North African region. We hope al mena would accelerate Precision Medicine in the region.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.