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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...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2021
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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 |
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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 |
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