AI Article Synopsis

  • The Arab population, consisting of over 420 million people, exhibits significant genetic diversity and a notable prevalence of genetic diseases, especially autosomal recessive disorders.
  • There is currently a lack of comprehensive databases documenting clinically relevant genetic variants from this population, which hinders accurate diagnosis and disease prevention.
  • To address this issue, the DALIA database has been created to compile genetic variants associated with diseases in the Arab population, serving as a valuable resource for clinical interpretation and genetic research.

Article Abstract

The Arab population encompasses over 420 million people characterized by genetic admixture and a consequent rich genetic diversity. A number of genetic diseases have been reported for the first time from the population. Additionally a high prevalence of some genetic diseases including autosomal recessive disorders such as hemoglobinopathies and familial mediterranean fever have been found in the population and across the region. There is a paucity of databases cataloguing genetic variants of clinical relevance from the population. The availability of such a catalog could have implications in precise diagnosis, genetic epidemiology and prevention of disease. To fill in the gap, we have compiled DALIA, a comprehensive compendium of genetic variants reported in literature and implicated in genetic diseases reported from the Arab population. The database aims to act as an effective resource for population-scale and sub-population specific variant analyses, enabling a ready reference aiding clinical interpretation of genetic variants, genetic epidemiology, as well as facilitating rapid screening and a quick reference for evaluating evidence on genetic diseases.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7806169PMC
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0244567PLOS

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