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DALIA- a comprehensive resource of Disease Alleles in Arab population.

Identifieur interne : 000058 ( Main/Exploration ); précédent : 000057; suivant : 000059

DALIA- 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 :

RBID : pubmed:33439861

Descripteurs français

English descriptors

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.

DOI: 10.1371/journal.pone.0244567
PubMed: 33439861
PubMed Central: PMC7806169


Affiliations:


Links toward previous steps (curation, corpus...)


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<name sortKey="Badaoui, Bouabid" sort="Badaoui, Bouabid" uniqKey="Badaoui B" first="Bouabid" last="Badaoui">Bouabid Badaoui</name>
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<name sortKey="Azedine, Kaidi" sort="Azedine, Kaidi" uniqKey="Azedine K" first="Kaidi" last="Azedine">Kaidi Azedine</name>
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<settlement type="city">Rabat</settlement>
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<name sortKey="Rajab, Anna" sort="Rajab, Anna" uniqKey="Rajab A" first="Anna" last="Rajab">Anna Rajab</name>
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<name sortKey="Fayez, Alaaeldin" sort="Fayez, Alaaeldin" uniqKey="Fayez A" first="Alaaeldin" last="Fayez">Alaaeldin Fayez</name>
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<name sortKey="Madinur, Seema" sort="Madinur, Seema" uniqKey="Madinur S" first="Seema" last="Madinur">Seema Madinur</name>
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<name sortKey="Ranawat, Anop" sort="Ranawat, Anop" uniqKey="Ranawat A" first="Anop" last="Ranawat">Anop Ranawat</name>
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<nlm:affiliation>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.</nlm:affiliation>
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<name sortKey="Pandhare, Kavita" sort="Pandhare, Kavita" uniqKey="Pandhare K" first="Kavita" last="Pandhare">Kavita Pandhare</name>
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<nlm:affiliation>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.</nlm:affiliation>
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<name sortKey="Ramachandran, Srinivasan" sort="Ramachandran, Srinivasan" uniqKey="Ramachandran S" first="Srinivasan" last="Ramachandran">Srinivasan Ramachandran</name>
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<nlm:affiliation>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.</nlm:affiliation>
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<wicri:noRegion>Delhi</wicri:noRegion>
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<nlm:affiliation>Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
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<name sortKey="Sivasubbu, Sridhar" sort="Sivasubbu, Sridhar" uniqKey="Sivasubbu S" first="Sridhar" last="Sivasubbu">Sridhar Sivasubbu</name>
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<nlm:affiliation>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi</wicri:regionArea>
<wicri:noRegion>Delhi</wicri:noRegion>
</affiliation>
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<nlm:affiliation>Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Academy of Scientific and Innovative Research (AcSIR), Ghaziabad</wicri:regionArea>
<wicri:noRegion>Ghaziabad</wicri:noRegion>
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<name sortKey="Scaria, Vinod" sort="Scaria, Vinod" uniqKey="Scaria V" first="Vinod" last="Scaria">Vinod Scaria</name>
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<nlm:affiliation>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi</wicri:regionArea>
<wicri:noRegion>Delhi</wicri:noRegion>
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<nlm:affiliation>Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
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<series>
<title level="j">PloS one</title>
<idno type="eISSN">1932-6203</idno>
<imprint>
<date when="2021" type="published">2021</date>
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<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>
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<front>
<div type="abstract" xml:lang="en">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.</div>
</front>
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<Year>2021</Year>
<Month>05</Month>
<Day>04</Day>
</DateCompleted>
<DateRevised>
<Year>2021</Year>
<Month>05</Month>
<Day>04</Day>
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<ISSN IssnType="Electronic">1932-6203</ISSN>
<JournalIssue CitedMedium="Internet">
<Volume>16</Volume>
<Issue>1</Issue>
<PubDate>
<Year>2021</Year>
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<Title>PloS one</Title>
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<ArticleTitle>DALIA- a comprehensive resource of Disease Alleles in Arab population.</ArticleTitle>
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<AbstractText>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.</AbstractText>
</Abstract>
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<Author ValidYN="Y">
<LastName>Vatsyayan</LastName>
<ForeName>Aastha</ForeName>
<Initials>A</Initials>
<AffiliationInfo>
<Affiliation>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.</Affiliation>
</AffiliationInfo>
<AffiliationInfo>
<Affiliation>Amity University, Noida, India.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Sharma</LastName>
<ForeName>Parul</ForeName>
<Initials>P</Initials>
<AffiliationInfo>
<Affiliation>Indraprastha Institute of Information Technology Delhi (IIIT-D), Delhi, India.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Gupta</LastName>
<ForeName>Shrey</ForeName>
<Initials>S</Initials>
<AffiliationInfo>
<Affiliation>Indraprastha Institute of Information Technology Delhi (IIIT-D), Delhi, India.</Affiliation>
</AffiliationInfo>
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<LastName>Sandhu</LastName>
<ForeName>Sumiti</ForeName>
<Initials>S</Initials>
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<Affiliation>Amity University, Rajasthan, Jaipur, India.</Affiliation>
</AffiliationInfo>
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<ForeName>Seetha Lakshmi</ForeName>
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</AffiliationInfo>
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<LastName>Sharma</LastName>
<ForeName>Vandana</ForeName>
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<AffiliationInfo>
<Affiliation>Kalindi College, University of Delhi, New Delhi, India.</Affiliation>
</AffiliationInfo>
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<LastName>Badaoui</LastName>
<ForeName>Bouabid</ForeName>
<Initials>B</Initials>
<AffiliationInfo>
<Affiliation>Mohammed V University, Rabat, Morocco.</Affiliation>
</AffiliationInfo>
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<LastName>Azedine</LastName>
<ForeName>Kaidi</ForeName>
<Initials>K</Initials>
<AffiliationInfo>
<Affiliation>Mohammed V University, Rabat, Morocco.</Affiliation>
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<LastName>Youssef</LastName>
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</AffiliationInfo>
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<LastName>Rajab</LastName>
<ForeName>Anna</ForeName>
<Initials>A</Initials>
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<Affiliation>National Genetic Center, Ministry of Health, Muscat, Oman.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Fayez</LastName>
<ForeName>Alaaeldin</ForeName>
<Initials>A</Initials>
<AffiliationInfo>
<Affiliation>Human Genetics and Genome Research Division, Center of Excellence for Human Genetics, National Research Center, Cairo, Egypt.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Madinur</LastName>
<ForeName>Seema</ForeName>
<Initials>S</Initials>
<AffiliationInfo>
<Affiliation>Independent Researcher, India.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Ranawat</LastName>
<ForeName>Anop</ForeName>
<Initials>A</Initials>
<AffiliationInfo>
<Affiliation>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Pandhare</LastName>
<ForeName>Kavita</ForeName>
<Initials>K</Initials>
<AffiliationInfo>
<Affiliation>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Ramachandran</LastName>
<ForeName>Srinivasan</ForeName>
<Initials>S</Initials>
<AffiliationInfo>
<Affiliation>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.</Affiliation>
</AffiliationInfo>
<AffiliationInfo>
<Affiliation>Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Sivasubbu</LastName>
<ForeName>Sridhar</ForeName>
<Initials>S</Initials>
<AffiliationInfo>
<Affiliation>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.</Affiliation>
</AffiliationInfo>
<AffiliationInfo>
<Affiliation>Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Scaria</LastName>
<ForeName>Vinod</ForeName>
<Initials>V</Initials>
<Identifier Source="ORCID">0000-0001-7644-7181</Identifier>
<AffiliationInfo>
<Affiliation>CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi, India.</Affiliation>
</AffiliationInfo>
<AffiliationInfo>
<Affiliation>Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList>
<PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic">
<Year>2021</Year>
<Month>01</Month>
<Day>13</Day>
</ArticleDate>
</Article>
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<Country>United States</Country>
<MedlineTA>PLoS One</MedlineTA>
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<ISSNLinking>1932-6203</ISSNLinking>
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<DescriptorName UI="D000483" MajorTopicYN="Y">Alleles</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D018912" MajorTopicYN="N">Arabs</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D030541" MajorTopicYN="Y">Databases, Genetic</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D010505" MajorTopicYN="N">Familial Mediterranean Fever</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D005787" MajorTopicYN="N">Gene Frequency</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D014644" MajorTopicYN="N">Genetic Variation</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D006453" MajorTopicYN="N">Hemoglobinopathies</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
</MeshHeadingList>
<CoiStatement>The authors have declared that no competing interests exist.</CoiStatement>
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<Month>08</Month>
<Day>27</Day>
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<Year>2020</Year>
<Month>12</Month>
<Day>11</Day>
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<Month>1</Month>
<Day>13</Day>
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   |type=    RBID
   |clé=     pubmed:33439861
   |texte=   DALIA- a comprehensive resource of Disease Alleles in Arab population.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i   -Sk "pubmed:33439861" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a MaghrebDataLibMedV1 

Wicri

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