DALIA- a comprehensive resource of Disease Alleles in Arab population
Identifieur interne : 000764 ( Main/Exploration ); précédent : 000763; suivant : 000765DALIA- a comprehensive resource of Disease Alleles in Arab population
Auteurs : Aastha Vatsyayan [Inde] ; Parul Sharma [Inde] ; Shrey Gupta [Inde] ; Sumiti Sandhu [Inde] ; Seetha Lakshmi Venu [Inde] ; Vandana Sharma [Inde] ; Bouabid Badaoui [Maroc] ; Kaidi Azedine [Maroc] ; Serti Youssef [Maroc] ; Anna Rajab [Oman] ; Alaaeldin Fayez [Égypte] ; Seema Madinur [Inde] ; Anop Ranawat [Inde] ; Kavita Pandhare [Inde] ; Srinivasan Ramachandran [Inde] ; Sridhar Sivasubbu [Inde] ; Vinod Scaria [Inde]Source :
- PLoS ONE [ 1932-6203 ] ; 2021.
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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.
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DOI: 10.1371/journal.pone.0244567
PubMed: 33439861
PubMed Central: 7806169
Affiliations:
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id="aff003"><addr-line>Indraprastha Institute of Information Technology Delhi (IIIT-D), Delhi, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Indraprastha Institute of Information Technology Delhi (IIIT-D), Delhi</wicri:regionArea></affiliation></author><author><name sortKey="Gupta, Shrey" sort="Gupta, Shrey" uniqKey="Gupta S" first="Shrey" last="Gupta">Shrey Gupta</name><affiliation wicri:level="1"><nlm:aff id="aff003"><addr-line>Indraprastha Institute of Information Technology Delhi (IIIT-D), Delhi, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Indraprastha Institute of Information Technology Delhi (IIIT-D), Delhi</wicri:regionArea></affiliation></author><author><name sortKey="Sandhu, Sumiti" sort="Sandhu, Sumiti" uniqKey="Sandhu S" first="Sumiti" last="Sandhu">Sumiti Sandhu</name><affiliation wicri:level="1"><nlm:aff id="aff004"><addr-line>Amity University, Rajasthan, Jaipur, India</addr-line></nlm:aff><country 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last="Badaoui">Bouabid Badaoui</name><affiliation wicri:level="1"><nlm:aff id="aff007"><addr-line>Mohammed V University, Rabat, Morocco</addr-line></nlm:aff><country xml:lang="fr">Maroc</country><wicri:regionArea>Mohammed V University, Rabat</wicri:regionArea></affiliation></author><author><name sortKey="Azedine, Kaidi" sort="Azedine, Kaidi" uniqKey="Azedine K" first="Kaidi" last="Azedine">Kaidi Azedine</name><affiliation wicri:level="1"><nlm:aff id="aff007"><addr-line>Mohammed V University, Rabat, Morocco</addr-line></nlm:aff><country xml:lang="fr">Maroc</country><wicri:regionArea>Mohammed V University, Rabat</wicri:regionArea></affiliation></author><author><name sortKey="Youssef, Serti" sort="Youssef, Serti" uniqKey="Youssef S" first="Serti" last="Youssef">Serti Youssef</name><affiliation wicri:level="1"><nlm:aff id="aff007"><addr-line>Mohammed V University, Rabat, Morocco</addr-line></nlm:aff><country xml:lang="fr">Maroc</country><wicri:regionArea>Mohammed V University, Rabat</wicri:regionArea></affiliation></author><author><name sortKey="Rajab, Anna" sort="Rajab, Anna" uniqKey="Rajab A" first="Anna" last="Rajab">Anna Rajab</name><affiliation wicri:level="1"><nlm:aff id="aff008"><addr-line>National Genetic Center, Ministry of Health, Muscat, Oman</addr-line></nlm:aff><country xml:lang="fr">Oman</country><wicri:regionArea>National Genetic Center, Ministry of Health, Muscat</wicri:regionArea></affiliation></author><author><name sortKey="Fayez, Alaaeldin" sort="Fayez, Alaaeldin" uniqKey="Fayez A" first="Alaaeldin" last="Fayez">Alaaeldin Fayez</name><affiliation wicri:level="1"><nlm:aff id="aff009"><addr-line>Human Genetics and Genome Research Division, Center of Excellence for Human Genetics, National Research Center, Cairo, Egypt</addr-line></nlm:aff><country xml:lang="fr">Égypte</country><wicri:regionArea>Human Genetics and Genome Research Division, Center of Excellence for Human Genetics, National Research Center, Cairo</wicri:regionArea></affiliation></author><author><name sortKey="Madinur, Seema" sort="Madinur, Seema" uniqKey="Madinur S" first="Seema" last="Madinur">Seema Madinur</name><affiliation wicri:level="1"><nlm:aff id="aff010"><addr-line>Independent Researcher, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Independent Researcher</wicri:regionArea></affiliation></author><author><name sortKey="Ranawat, Anop" sort="Ranawat, Anop" uniqKey="Ranawat A" first="Anop" last="Ranawat">Anop Ranawat</name><affiliation wicri:level="1"><nlm:aff id="aff001"><addr-line>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi</wicri:regionArea></affiliation></author><author><name sortKey="Pandhare, Kavita" sort="Pandhare, Kavita" uniqKey="Pandhare K" first="Kavita" last="Pandhare">Kavita Pandhare</name><affiliation wicri:level="1"><nlm:aff id="aff001"><addr-line>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi</wicri:regionArea></affiliation></author><author><name sortKey="Ramachandran, Srinivasan" sort="Ramachandran, Srinivasan" uniqKey="Ramachandran S" first="Srinivasan" last="Ramachandran">Srinivasan Ramachandran</name><affiliation wicri:level="1"><nlm:aff id="aff001"><addr-line>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff011"><addr-line>Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India</addr-line></nlm:aff><country 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Noida</wicri:regionArea></affiliation></author><author><name sortKey="Sharma, Parul" sort="Sharma, Parul" uniqKey="Sharma P" first="Parul" last="Sharma">Parul Sharma</name><affiliation wicri:level="1"><nlm:aff id="aff003"><addr-line>Indraprastha Institute of Information Technology Delhi (IIIT-D), Delhi, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Indraprastha Institute of Information Technology Delhi (IIIT-D), Delhi</wicri:regionArea></affiliation></author><author><name sortKey="Gupta, Shrey" sort="Gupta, Shrey" uniqKey="Gupta S" first="Shrey" last="Gupta">Shrey Gupta</name><affiliation wicri:level="1"><nlm:aff id="aff003"><addr-line>Indraprastha Institute of Information Technology Delhi (IIIT-D), Delhi, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Indraprastha Institute of Information Technology Delhi (IIIT-D), Delhi</wicri:regionArea></affiliation></author><author><name sortKey="Sandhu, Sumiti" sort="Sandhu, Sumiti" uniqKey="Sandhu S" first="Sumiti" last="Sandhu">Sumiti Sandhu</name><affiliation wicri:level="1"><nlm:aff id="aff004"><addr-line>Amity University, Rajasthan, Jaipur, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Amity University, Rajasthan, Jaipur</wicri:regionArea></affiliation></author><author><name sortKey="Venu, Seetha Lakshmi" sort="Venu, Seetha Lakshmi" uniqKey="Venu S" first="Seetha Lakshmi" last="Venu">Seetha Lakshmi Venu</name><affiliation wicri:level="1"><nlm:aff id="aff005"><addr-line>ACBR, Delhi, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>ACBR, Delhi</wicri:regionArea></affiliation></author><author><name sortKey="Sharma, Vandana" sort="Sharma, Vandana" uniqKey="Sharma V" first="Vandana" last="Sharma">Vandana Sharma</name><affiliation wicri:level="1"><nlm:aff id="aff006"><addr-line>Kalindi College, University of Delhi, New Delhi, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Kalindi College, University of Delhi, New Delhi</wicri:regionArea></affiliation></author><author><name sortKey="Badaoui, Bouabid" sort="Badaoui, Bouabid" uniqKey="Badaoui B" first="Bouabid" last="Badaoui">Bouabid Badaoui</name><affiliation wicri:level="1"><nlm:aff id="aff007"><addr-line>Mohammed V University, Rabat, Morocco</addr-line></nlm:aff><country xml:lang="fr">Maroc</country><wicri:regionArea>Mohammed V University, Rabat</wicri:regionArea></affiliation></author><author><name sortKey="Azedine, Kaidi" sort="Azedine, Kaidi" uniqKey="Azedine K" first="Kaidi" last="Azedine">Kaidi Azedine</name><affiliation wicri:level="1"><nlm:aff id="aff007"><addr-line>Mohammed V University, Rabat, Morocco</addr-line></nlm:aff><country xml:lang="fr">Maroc</country><wicri:regionArea>Mohammed V University, Rabat</wicri:regionArea></affiliation></author><author><name sortKey="Youssef, Serti" sort="Youssef, Serti" uniqKey="Youssef S" first="Serti" last="Youssef">Serti Youssef</name><affiliation wicri:level="1"><nlm:aff id="aff007"><addr-line>Mohammed V University, Rabat, Morocco</addr-line></nlm:aff><country xml:lang="fr">Maroc</country><wicri:regionArea>Mohammed V University, Rabat</wicri:regionArea></affiliation></author><author><name sortKey="Rajab, Anna" sort="Rajab, Anna" uniqKey="Rajab A" first="Anna" last="Rajab">Anna Rajab</name><affiliation wicri:level="1"><nlm:aff id="aff008"><addr-line>National Genetic Center, Ministry of Health, Muscat, Oman</addr-line></nlm:aff><country xml:lang="fr">Oman</country><wicri:regionArea>National Genetic Center, Ministry of Health, Muscat</wicri:regionArea></affiliation></author><author><name sortKey="Fayez, Alaaeldin" sort="Fayez, Alaaeldin" uniqKey="Fayez A" first="Alaaeldin" last="Fayez">Alaaeldin Fayez</name><affiliation wicri:level="1"><nlm:aff id="aff009"><addr-line>Human Genetics and Genome Research Division, Center of Excellence for Human Genetics, National Research Center, Cairo, Egypt</addr-line></nlm:aff><country xml:lang="fr">Égypte</country><wicri:regionArea>Human Genetics and Genome Research Division, Center of Excellence for Human Genetics, National Research Center, Cairo</wicri:regionArea></affiliation></author><author><name sortKey="Madinur, Seema" sort="Madinur, Seema" uniqKey="Madinur S" first="Seema" last="Madinur">Seema Madinur</name><affiliation wicri:level="1"><nlm:aff id="aff010"><addr-line>Independent Researcher, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Independent Researcher</wicri:regionArea></affiliation></author><author><name sortKey="Ranawat, Anop" sort="Ranawat, Anop" uniqKey="Ranawat A" first="Anop" last="Ranawat">Anop Ranawat</name><affiliation wicri:level="1"><nlm:aff id="aff001"><addr-line>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi</wicri:regionArea></affiliation></author><author><name sortKey="Pandhare, Kavita" sort="Pandhare, Kavita" uniqKey="Pandhare K" first="Kavita" last="Pandhare">Kavita Pandhare</name><affiliation wicri:level="1"><nlm:aff id="aff001"><addr-line>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi</wicri:regionArea></affiliation></author><author><name sortKey="Ramachandran, Srinivasan" sort="Ramachandran, Srinivasan" uniqKey="Ramachandran S" first="Srinivasan" last="Ramachandran">Srinivasan Ramachandran</name><affiliation wicri:level="1"><nlm:aff id="aff001"><addr-line>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff011"><addr-line>Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Academy of Scientific and Innovative Research (AcSIR), Ghaziabad</wicri:regionArea></affiliation></author><author><name sortKey="Sivasubbu, Sridhar" sort="Sivasubbu, Sridhar" uniqKey="Sivasubbu S" first="Sridhar" last="Sivasubbu">Sridhar Sivasubbu</name><affiliation wicri:level="1"><nlm:aff id="aff001"><addr-line>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff011"><addr-line>Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Academy of Scientific and Innovative Research (AcSIR), Ghaziabad</wicri:regionArea></affiliation></author><author><name sortKey="Scaria, Vinod" sort="Scaria, Vinod" uniqKey="Scaria V" first="Vinod" last="Scaria">Vinod Scaria</name><affiliation wicri:level="1"><nlm:aff id="aff001"><addr-line>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff011"><addr-line>Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India</addr-line></nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Academy of Scientific and Innovative Research (AcSIR), Ghaziabad</wicri:regionArea></affiliation></author></analytic><series><title level="j">PLoS ONE</title><idno type="eISSN">1932-6203</idno><imprint><date when="2021">2021</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles (MeSH)</term><term>Arabs (genetics)</term><term>Databases, Genetic (MeSH)</term><term>Familial Mediterranean Fever (genetics)</term><term>Gene Frequency (MeSH)</term><term>Genetic Predisposition to Disease (MeSH)</term><term>Genetic Variation (MeSH)</term><term>Hemoglobinopathies (genetics)</term><term>Humans (MeSH)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Allèles (MeSH)</term><term>Arabes (génétique)</term><term>Bases de données génétiques (MeSH)</term><term>Fièvre méditerranéenne familiale (génétique)</term><term>Fréquence d'allèle (MeSH)</term><term>Humains (MeSH)</term><term>Hémoglobinopathies (génétique)</term><term>Prédisposition génétique à une maladie (MeSH)</term><term>Variation génétique (MeSH)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Arabs</term><term>Familial Mediterranean Fever</term><term>Hemoglobinopathies</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Arabes</term><term>Fièvre méditerranéenne familiale</term><term>Hémoglobinopathies</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Alleles</term><term>Databases, Genetic</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genetic Variation</term><term>Humans</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Allèles</term><term>Bases de données génétiques</term><term>Fréquence d'allèle</term><term>Humains</term><term>Prédisposition génétique à une maladie</term><term>Variation génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>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.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Tadmouri, Go" uniqKey="Tadmouri G">GO Tadmouri</name></author><author><name sortKey="Sastry, Ks" uniqKey="Sastry K">KS Sastry</name></author><author><name sortKey="Chouchane, L" uniqKey="Chouchane L">L Chouchane</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Al Gazali, L" uniqKey="Al Gazali L">L Al-Gazali</name></author><author><name sortKey="Hamamy, H" uniqKey="Hamamy H">H Hamamy</name></author><author><name sortKey="Al Arrayad, S" uniqKey="Al Arrayad S">S 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first="Srinivasan" last="Ramachandran">Srinivasan Ramachandran</name><name sortKey="Ramachandran, Srinivasan" sort="Ramachandran, Srinivasan" uniqKey="Ramachandran S" first="Srinivasan" last="Ramachandran">Srinivasan Ramachandran</name><name sortKey="Ranawat, Anop" sort="Ranawat, Anop" uniqKey="Ranawat A" first="Anop" last="Ranawat">Anop Ranawat</name><name sortKey="Sandhu, Sumiti" sort="Sandhu, Sumiti" uniqKey="Sandhu S" first="Sumiti" last="Sandhu">Sumiti Sandhu</name><name sortKey="Scaria, Vinod" sort="Scaria, Vinod" uniqKey="Scaria V" first="Vinod" last="Scaria">Vinod Scaria</name><name sortKey="Scaria, Vinod" sort="Scaria, Vinod" uniqKey="Scaria V" first="Vinod" last="Scaria">Vinod Scaria</name><name sortKey="Sharma, Parul" sort="Sharma, Parul" uniqKey="Sharma P" first="Parul" last="Sharma">Parul Sharma</name><name sortKey="Sharma, Vandana" sort="Sharma, Vandana" uniqKey="Sharma V" first="Vandana" last="Sharma">Vandana Sharma</name><name sortKey="Sivasubbu, Sridhar" sort="Sivasubbu, Sridhar" uniqKey="Sivasubbu S" first="Sridhar" last="Sivasubbu">Sridhar Sivasubbu</name><name sortKey="Sivasubbu, Sridhar" sort="Sivasubbu, Sridhar" uniqKey="Sivasubbu S" first="Sridhar" last="Sivasubbu">Sridhar Sivasubbu</name><name sortKey="Vatsyayan, Aastha" sort="Vatsyayan, Aastha" uniqKey="Vatsyayan A" first="Aastha" last="Vatsyayan">Aastha Vatsyayan</name><name sortKey="Venu, Seetha Lakshmi" sort="Venu, Seetha Lakshmi" uniqKey="Venu S" first="Seetha Lakshmi" last="Venu">Seetha Lakshmi Venu</name></country><country name="Maroc"><noRegion><name sortKey="Badaoui, Bouabid" sort="Badaoui, Bouabid" uniqKey="Badaoui B" first="Bouabid" last="Badaoui">Bouabid Badaoui</name></noRegion><name sortKey="Azedine, Kaidi" sort="Azedine, Kaidi" uniqKey="Azedine K" first="Kaidi" last="Azedine">Kaidi Azedine</name><name sortKey="Youssef, Serti" sort="Youssef, Serti" uniqKey="Youssef S" first="Serti" last="Youssef">Serti Youssef</name></country><country name="Oman"><noRegion><name sortKey="Rajab, Anna" sort="Rajab, Anna" uniqKey="Rajab A" first="Anna" last="Rajab">Anna Rajab</name></noRegion></country><country name="Égypte"><noRegion><name sortKey="Fayez, Alaaeldin" sort="Fayez, Alaaeldin" uniqKey="Fayez A" first="Alaaeldin" last="Fayez">Alaaeldin Fayez</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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