PLoS ONE (Jan 2021)

DALIA- a comprehensive resource of Disease Alleles in Arab population.

  • Aastha Vatsyayan,
  • Parul Sharma,
  • Shrey Gupta,
  • Sumiti Sandhu,
  • Seetha Lakshmi Venu,
  • Vandana Sharma,
  • Bouabid Badaoui,
  • Kaidi Azedine,
  • Serti Youssef,
  • Anna Rajab,
  • Alaaeldin Fayez,
  • Seema Madinur,
  • Anop Ranawat,
  • Kavita Pandhare,
  • Srinivasan Ramachandran,
  • Sridhar Sivasubbu,
  • Vinod Scaria

DOI
https://doi.org/10.1371/journal.pone.0244567
Journal volume & issue
Vol. 16, no. 1
p. e0244567

Abstract

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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.