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PLoS One ; 16(1): e0244567, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33439861

RESUMO

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.


Assuntos
Alelos , Árabes/genética , Bases de Dados Genéticas , Febre Familiar do Mediterrâneo/genética , Frequência do Gene , Predisposição Genética para Doença , Variação Genética , Hemoglobinopatias/genética , Humanos
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