Cargando…

DALIA- a comprehensive resource of Disease Alleles in Arab population

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 rece...

Descripción completa

Detalles Bibliográficos
Autores principales: Vatsyayan, Aastha, Sharma, Parul, Gupta, Shrey, Sandhu, Sumiti, Venu, Seetha Lakshmi, Sharma, Vandana, Badaoui, Bouabid, Azedine, Kaidi, Youssef, Serti, Rajab, Anna, Fayez, Alaaeldin, Madinur, Seema, Ranawat, Anop, Pandhare, Kavita, Ramachandran, Srinivasan, Sivasubbu, Sridhar, Scaria, Vinod
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7806169/
https://www.ncbi.nlm.nih.gov/pubmed/33439861
http://dx.doi.org/10.1371/journal.pone.0244567
_version_ 1783636473037193216
author Vatsyayan, Aastha
Sharma, Parul
Gupta, Shrey
Sandhu, Sumiti
Venu, Seetha Lakshmi
Sharma, Vandana
Badaoui, Bouabid
Azedine, Kaidi
Youssef, Serti
Rajab, Anna
Fayez, Alaaeldin
Madinur, Seema
Ranawat, Anop
Pandhare, Kavita
Ramachandran, Srinivasan
Sivasubbu, Sridhar
Scaria, Vinod
author_facet Vatsyayan, Aastha
Sharma, Parul
Gupta, Shrey
Sandhu, Sumiti
Venu, Seetha Lakshmi
Sharma, Vandana
Badaoui, Bouabid
Azedine, Kaidi
Youssef, Serti
Rajab, Anna
Fayez, Alaaeldin
Madinur, Seema
Ranawat, Anop
Pandhare, Kavita
Ramachandran, Srinivasan
Sivasubbu, Sridhar
Scaria, Vinod
author_sort Vatsyayan, Aastha
collection PubMed
description 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.
format Online
Article
Text
id pubmed-7806169
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Public Library of Science
record_format MEDLINE/PubMed
spelling pubmed-78061692021-01-25 DALIA- a comprehensive resource of Disease Alleles in Arab population Vatsyayan, Aastha Sharma, Parul Gupta, Shrey Sandhu, Sumiti Venu, Seetha Lakshmi Sharma, Vandana Badaoui, Bouabid Azedine, Kaidi Youssef, Serti Rajab, Anna Fayez, Alaaeldin Madinur, Seema Ranawat, Anop Pandhare, Kavita Ramachandran, Srinivasan Sivasubbu, Sridhar Scaria, Vinod PLoS One Research Article 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. Public Library of Science 2021-01-13 /pmc/articles/PMC7806169/ /pubmed/33439861 http://dx.doi.org/10.1371/journal.pone.0244567 Text en © 2021 Vatsyayan et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Vatsyayan, Aastha
Sharma, Parul
Gupta, Shrey
Sandhu, Sumiti
Venu, Seetha Lakshmi
Sharma, Vandana
Badaoui, Bouabid
Azedine, Kaidi
Youssef, Serti
Rajab, Anna
Fayez, Alaaeldin
Madinur, Seema
Ranawat, Anop
Pandhare, Kavita
Ramachandran, Srinivasan
Sivasubbu, Sridhar
Scaria, Vinod
DALIA- a comprehensive resource of Disease Alleles in Arab population
title DALIA- a comprehensive resource of Disease Alleles in Arab population
title_full DALIA- a comprehensive resource of Disease Alleles in Arab population
title_fullStr DALIA- a comprehensive resource of Disease Alleles in Arab population
title_full_unstemmed DALIA- a comprehensive resource of Disease Alleles in Arab population
title_short DALIA- a comprehensive resource of Disease Alleles in Arab population
title_sort dalia- a comprehensive resource of disease alleles in arab population
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7806169/
https://www.ncbi.nlm.nih.gov/pubmed/33439861
http://dx.doi.org/10.1371/journal.pone.0244567
work_keys_str_mv AT vatsyayanaastha daliaacomprehensiveresourceofdiseaseallelesinarabpopulation
AT sharmaparul daliaacomprehensiveresourceofdiseaseallelesinarabpopulation
AT guptashrey daliaacomprehensiveresourceofdiseaseallelesinarabpopulation
AT sandhusumiti daliaacomprehensiveresourceofdiseaseallelesinarabpopulation
AT venuseethalakshmi daliaacomprehensiveresourceofdiseaseallelesinarabpopulation
AT sharmavandana daliaacomprehensiveresourceofdiseaseallelesinarabpopulation
AT badaouibouabid daliaacomprehensiveresourceofdiseaseallelesinarabpopulation
AT azedinekaidi daliaacomprehensiveresourceofdiseaseallelesinarabpopulation
AT youssefserti daliaacomprehensiveresourceofdiseaseallelesinarabpopulation
AT rajabanna daliaacomprehensiveresourceofdiseaseallelesinarabpopulation
AT fayezalaaeldin daliaacomprehensiveresourceofdiseaseallelesinarabpopulation
AT madinurseema daliaacomprehensiveresourceofdiseaseallelesinarabpopulation
AT ranawatanop daliaacomprehensiveresourceofdiseaseallelesinarabpopulation
AT pandharekavita daliaacomprehensiveresourceofdiseaseallelesinarabpopulation
AT ramachandransrinivasan daliaacomprehensiveresourceofdiseaseallelesinarabpopulation
AT sivasubbusridhar daliaacomprehensiveresourceofdiseaseallelesinarabpopulation
AT scariavinod daliaacomprehensiveresourceofdiseaseallelesinarabpopulation