| Literature DB >> 33439861 |
Aastha Vatsyayan1,2, Parul Sharma3, Shrey Gupta3, Sumiti Sandhu4, Seetha Lakshmi Venu5, Vandana Sharma6, Bouabid Badaoui7, Kaidi Azedine7, Serti Youssef7, Anna Rajab8, Alaaeldin Fayez9, Seema Madinur10, Anop Ranawat1, Kavita Pandhare1, Srinivasan Ramachandran1,11, Sridhar Sivasubbu1,11, Vinod Scaria1,11.
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.Entities:
Year: 2021 PMID: 33439861 PMCID: PMC7806169 DOI: 10.1371/journal.pone.0244567
Source DB: PubMed Journal: PLoS One ISSN: 1932-6203 Impact factor: 3.240