FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
Identifieur interne : 000812 ( Istex/Corpus ); précédent : 000811; suivant : 000813FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
Auteurs : Sjozef Van Baal ; Polynikis Kaimakis ; Manyphong Phommarinh ; Daphne Koumbi ; Harry Cuppens ; Francesca Riccardino ; Milan Macek ; Charles R. Scriver ; George P. PatrinosSource :
- Nucleic Acids Research [ 0305-1048 ] ; 2006-11-28.
Abstract
Frequency of INherited Disorders database (FINDbase) () is a relational database, derived from the ETHNOS software, recording frequencies of causative mutations leading to inherited disorders worldwide. Database records include the population and ethnic group, the disorder name and the related gene, accompanied by links to any corresponding locus-specific mutation database, to the respective Online Mendelian Inheritance in Man entries and the mutation together with its frequency in that population. The initial information is derived from the published literature, locus-specific databases and genetic disease consortia. FINDbase offers a user-friendly query interface, providing instant access to the list and frequencies of the different mutations. Query outputs can be either in a table or graphical format, accompanied by reference(s) on the data source. Registered users from three different groups, namely administrator, national coordinator and curator, are responsible for database curation and/or data entry/correction online via a password-protected interface. Databaseaccess is free of charge and there are no registration requirements for data querying. FINDbase provides a simple, web-based system for population-based mutation data collection and retrieval and can serve not only as a valuable online tool for molecular genetic testing of inherited disorders but also as a non-profit model for sustainable database funding, in the form of a ‘database-journal’.
Url:
DOI: 10.1093/nar/gkl934
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Database records include the population and ethnic group, the disorder name and the related gene, accompanied by links to any corresponding locus-specific mutation database, to the respective Online Mendelian Inheritance in Man entries and the mutation together with its frequency in that population. The initial information is derived from the published literature, locus-specific databases and genetic disease consortia. FINDbase offers a user-friendly query interface, providing instant access to the list and frequencies of the different mutations. Query outputs can be either in a table or graphical format, accompanied by reference(s) on the data source. Registered users from three different groups, namely administrator, national coordinator and curator, are responsible for database curation and/or data entry/correction online via a password-protected interface. Databaseaccess is free of charge and there are no registration requirements for data querying. FINDbase provides a simple, web-based system for population-based mutation data collection and retrieval and can serve not only as a valuable online tool for molecular genetic testing of inherited disorders but also as a non-profit model for sustainable database funding, in the form of a ‘database-journal’.</div></front></TEI><istex><corpusName>oup</corpusName><author><json:item><name>Sjozef van Baal</name><affiliations><json:string>Erasmus MC, MGC-Department of Cell Biology and Genetics Rotterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Polynikis Kaimakis</name><affiliations><json:string>Erasmus MC, MGC-Department of Cell Biology and Genetics Rotterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Manyphong Phommarinh</name><affiliations><json:string>Montreal Children's Hospital Research Institute, McGill University Montreal, Canada</json:string></affiliations></json:item><json:item><name>Daphne Koumbi</name><affiliations><json:string>Fox Chase Cancer Center, Human Genetics Division Philadelphia, PA, USA</json:string></affiliations></json:item><json:item><name>Harry Cuppens</name><affiliations><json:string>Centre for Human Genetics, Katholic University of Leuven Campus Gasthuisberg, Leuven, Belgium</json:string></affiliations></json:item><json:item><name>Francesca Riccardino</name><affiliations><json:string>Dipartimento di Genetica, Biologia, Biochimica, Università di Torino Torino, Italy</json:string></affiliations></json:item><json:item><name>Milan Macek Jr</name><affiliations><json:string>Department of Molecular Genetics, Institute of Biology and Medical Genetics–National Cystic Fibrosis Centre, University Hospital Motol and Second School of Medicine of Charles University Prague, Czech Republic</json:string></affiliations></json:item><json:item><name>Charles R. 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Database records include the population and ethnic group, the disorder name and the related gene, accompanied by links to any corresponding locus-specific mutation database, to the respective Online Mendelian Inheritance in Man entries and the mutation together with its frequency in that population. The initial information is derived from the published literature, locus-specific databases and genetic disease consortia. FINDbase offers a user-friendly query interface, providing instant access to the list and frequencies of the different mutations. Query outputs can be either in a table or graphical format, accompanied by reference(s) on the data source. Registered users from three different groups, namely administrator, national coordinator and curator, are responsible for database curation and/or data entry/correction online via a password-protected interface. Databaseaccess is free of charge and there are no registration requirements for data querying. FINDbase provides a simple, web-based system for population-based mutation data collection and retrieval and can serve not only as a valuable online tool for molecular genetic testing of inherited disorders but also as a non-profit model for sustainable database funding, in the form of a ‘database-journal’.</p></abstract><textClass><keywords scheme="keyword"><list><item><term>Articles</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2006-11-28">Created</change><change when="2006-11-28">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2016-10-14">References added</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/5ABE0CB5861B7265895E632B2617DC1EC2B8C50F/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus oup" wicri:toSee="no header"><istex:docType PUBLIC="-//NLM//DTD Journal Publishing DTD v2.3 20070202//EN" URI="journalpublishing.dtd" name="istex:docType"></istex:docType><istex:document><article article-type="research-article"><front><journal-meta><journal-id journal-id-type="hwp">nar</journal-id><journal-id journal-id-type="publisher-id">nar</journal-id><journal-id journal-id-type="pmc">nar</journal-id><journal-title>Nucleic Acids Research</journal-title><issn pub-type="epub">1362-4962</issn><issn pub-type="ppub">0305-1048</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.1093/nar/gkl934</article-id><article-categories><subj-group><subject>Articles</subject></subj-group></article-categories><title-group><article-title>FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>van Baal</surname><given-names>Sjozef</given-names></name><xref ref-type="aff" rid="au1">1</xref></contrib><contrib contrib-type="author"><name><surname>Kaimakis</surname><given-names>Polynikis</given-names></name><xref ref-type="aff" rid="au1">1</xref></contrib><contrib contrib-type="author"><name><surname>Phommarinh</surname><given-names>Manyphong</given-names></name><xref ref-type="aff" rid="au2">2</xref></contrib><contrib contrib-type="author"><name><surname>Koumbi</surname><given-names>Daphne</given-names></name><xref ref-type="aff" rid="au3">3</xref></contrib><contrib contrib-type="author"><name><surname>Cuppens</surname><given-names>Harry</given-names></name><xref ref-type="aff" rid="au4">4</xref></contrib><contrib contrib-type="author"><name><surname>Riccardino</surname><given-names>Francesca</given-names></name><xref ref-type="aff" rid="au5">5</xref></contrib><contrib contrib-type="author"><name><surname>Macek</surname><given-names>Milan</given-names><suffix>Jr</suffix></name><xref ref-type="aff" rid="au6">6</xref></contrib><contrib contrib-type="author"><name><surname>Scriver</surname><given-names>Charles R.</given-names></name><xref ref-type="aff" rid="au2">2</xref></contrib><contrib contrib-type="author"><name><surname>Patrinos</surname><given-names>George P.</given-names></name><xref ref-type="aff" rid="au1">1</xref><xref ref-type="aff" rid="au7">7</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib><aff id="au1"><sup>1</sup><institution>Erasmus MC, MGC-Department of Cell Biology and Genetics</institution> <addr-line>Rotterdam, The Netherlands</addr-line></aff><aff id="au2"><sup>2</sup><institution>Montreal Children's Hospital Research Institute, McGill University</institution> <addr-line>Montreal, Canada</addr-line></aff><aff id="au3"><sup>3</sup><institution>Fox Chase Cancer Center, Human Genetics Division</institution> <addr-line>Philadelphia, PA, USA</addr-line></aff><aff id="au4"><sup>4</sup><institution>Centre for Human Genetics, Katholic University of Leuven</institution> <addr-line>Campus Gasthuisberg, Leuven, Belgium</addr-line></aff><aff id="au5"><sup>5</sup><institution>Dipartimento di Genetica, Biologia, Biochimica, Università di Torino</institution> <addr-line>Torino, Italy</addr-line></aff><aff id="au6"><sup>6</sup><institution>Department of Molecular Genetics, Institute of Biology and Medical Genetics–National Cystic Fibrosis Centre, University Hospital Motol and Second School of Medicine of Charles University</institution> <addr-line>Prague, Czech Republic</addr-line></aff><aff id="au7"><sup>7</sup><institution>Asclepion Genetics</institution> <addr-line>Lausanne, Switzerland</addr-line></aff></contrib-group><author-notes><corresp id="cor1"><sup>*</sup>To whom correspondence should be addressed. Tel: +31 10 408 7454; Fax: +31 10 408 9468; Email: <email>g.patrinos@erasmusmc.nl</email></corresp></author-notes><pub-date pub-type="collection"><month>1</month><year>2007</year></pub-date><pub-date pub-type="epub"><day>28</day><month>11</month><year>2006</year></pub-date><volume>35</volume><issue>suppl_1</issue><fpage>D690</fpage><lpage>D695</lpage><history><date date-type="received"><day>12</day><month>7</month><year>2006</year></date><date date-type="rev-recd"><day>13</day><month>10</month><year>2006</year></date><date date-type="accepted"><day>13</day><month>10</month><year>2006</year></date></history><copyright-statement>© 2006 The Author(s)</copyright-statement><copyright-year>2006</copyright-year><license license-type="openaccess"><p>This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.</p></license><abstract><p>Frequency of INherited Disorders database (FINDbase) (<ext-link ext-link-type="uri" xlink:href="http://www.findbase.org"></ext-link>) is a relational database, derived from the <italic>ETHNOS</italic> software, recording frequencies of causative mutations leading to inherited disorders worldwide. Database records include the population and ethnic group, the disorder name and the related gene, accompanied by links to any corresponding locus-specific mutation database, to the respective Online Mendelian Inheritance in Man entries and the mutation together with its frequency in that population. The initial information is derived from the published literature, locus-specific databases and genetic disease consortia. FINDbase offers a user-friendly query interface, providing instant access to the list and frequencies of the different mutations. Query outputs can be either in a table or graphical format, accompanied by reference(s) on the data source. Registered users from three different groups, namely administrator, national coordinator and curator, are responsible for database curation and/or data entry/correction online via a password-protected interface. Databaseaccess is free of charge and there are no registration requirements for data querying. FINDbase provides a simple, web-based system for population-based mutation data collection and retrieval and can serve not only as a valuable online tool for molecular genetic testing of inherited disorders but also as a non-profit model for sustainable database funding, in the form of a ‘database-journal’.</p></abstract></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo><title>FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide</title></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide</title></titleInfo><name type="personal"><namePart type="given">Sjozef</namePart><namePart type="family">van Baal</namePart><affiliation>Erasmus MC, MGC-Department of Cell Biology and Genetics Rotterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Polynikis</namePart><namePart type="family">Kaimakis</namePart><affiliation>Erasmus MC, MGC-Department of Cell Biology and Genetics Rotterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Manyphong</namePart><namePart type="family">Phommarinh</namePart><affiliation>Montreal Children's Hospital Research Institute, McGill University Montreal, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Daphne</namePart><namePart type="family">Koumbi</namePart><affiliation>Fox Chase Cancer Center, Human Genetics Division Philadelphia, PA, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Harry</namePart><namePart type="family">Cuppens</namePart><affiliation>Centre for Human Genetics, Katholic University of Leuven Campus Gasthuisberg, Leuven, Belgium</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Francesca</namePart><namePart type="family">Riccardino</namePart><affiliation>Dipartimento di Genetica, Biologia, Biochimica, Università di Torino Torino, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Milan</namePart><namePart type="family">Macek</namePart><namePart type="termsOfAddress">Jr</namePart><affiliation>Department of Molecular Genetics, Institute of Biology and Medical Genetics–National Cystic Fibrosis Centre, University Hospital Motol and Second School of Medicine of Charles University Prague, Czech Republic</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Charles R.</namePart><namePart type="family">Scriver</namePart><affiliation>Montreal Children's Hospital Research Institute, McGill University Montreal, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">George P.</namePart><namePart type="family">Patrinos</namePart><affiliation>Erasmus MC, MGC-Department of Cell Biology and Genetics Rotterdam, The Netherlands</affiliation><affiliation>Asclepion Genetics Lausanne, Switzerland</affiliation><affiliation>E-mail: g.patrinos@erasmusmc.nl</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="research-article"></genre><subject><topic>Articles</topic></subject><originInfo><publisher>Oxford University Press</publisher><dateIssued encoding="w3cdtf">2006-11-28</dateIssued><dateCreated encoding="w3cdtf">2006-11-28</dateCreated><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract>Frequency of INherited Disorders database (FINDbase) () is a relational database, derived from the ETHNOS software, recording frequencies of causative mutations leading to inherited disorders worldwide. Database records include the population and ethnic group, the disorder name and the related gene, accompanied by links to any corresponding locus-specific mutation database, to the respective Online Mendelian Inheritance in Man entries and the mutation together with its frequency in that population. The initial information is derived from the published literature, locus-specific databases and genetic disease consortia. FINDbase offers a user-friendly query interface, providing instant access to the list and frequencies of the different mutations. Query outputs can be either in a table or graphical format, accompanied by reference(s) on the data source. Registered users from three different groups, namely administrator, national coordinator and curator, are responsible for database curation and/or data entry/correction online via a password-protected interface. Databaseaccess is free of charge and there are no registration requirements for data querying. FINDbase provides a simple, web-based system for population-based mutation data collection and retrieval and can serve not only as a valuable online tool for molecular genetic testing of inherited disorders but also as a non-profit model for sustainable database funding, in the form of a ‘database-journal’.</abstract><relatedItem type="host"><titleInfo><title>Nucleic Acids Research</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0305-1048</identifier><identifier type="eISSN">1362-4962</identifier><identifier type="PublisherID">nar</identifier><identifier type="PublisherID-hwp">nar</identifier><part><date>2006</date><detail type="volume"><caption>vol.</caption><number>35</number></detail><detail type="supplement"><number>suppl_1</number></detail><extent unit="pages"><start>D690</start><end>D695</end></extent></part></relatedItem><identifier type="istex">5ABE0CB5861B7265895E632B2617DC1EC2B8C50F</identifier><identifier type="DOI">10.1093/nar/gkl934</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2006 The Author(s)</accessCondition><recordInfo><recordContentSource>OUP</recordContentSource></recordInfo></mods></metadata><covers><json:item><original>true</original><mimetype>image/tiff</mimetype><extension>tiff</extension><uri>https://api.istex.fr/document/5ABE0CB5861B7265895E632B2617DC1EC2B8C50F/covers/tiff</uri></json:item><json:item><original>true</original><mimetype>text/html</mimetype><extension>html</extension><uri>https://api.istex.fr/document/5ABE0CB5861B7265895E632B2617DC1EC2B8C50F/covers/html</uri></json:item></covers><annexes><json:item><original>true</original><mimetype>image/jpeg</mimetype><extension>jpeg</extension><uri>https://api.istex.fr/document/5ABE0CB5861B7265895E632B2617DC1EC2B8C50F/annexes/jpeg</uri></json:item><json:item><original>true</original><mimetype>image/gif</mimetype><extension>gif</extension><uri>https://api.istex.fr/document/5ABE0CB5861B7265895E632B2617DC1EC2B8C50F/annexes/gif</uri></json:item></annexes><enrichments><istex:catWosTEI uri="https://api.istex.fr/document/5ABE0CB5861B7265895E632B2617DC1EC2B8C50F/enrichments/catWos"><teiHeader><profileDesc><textClass><classCode scheme="WOS">BIOCHEMISTRY & MOLECULAR BIOLOGY</classCode></textClass></profileDesc></teiHeader></istex:catWosTEI><json:item><type>refBibs</type><uri>https://api.istex.fr/document/5ABE0CB5861B7265895E632B2617DC1EC2B8C50F/enrichments/refBibs</uri></json:item></enrichments><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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