Next generation sequencing in genetic diagnostics
Identifieur interne : 002372 ( Main/Corpus ); précédent : 002371; suivant : 002373Next generation sequencing in genetic diagnostics
Auteurs : Saskia BiskupSource :
- LaboratoriumsMedizin [ 0342-3026 ] ; 2010-NaN-01.
Abstract
The introduction of next-generation sequencing technologies in human genetic diagnostics is a challenge to many of its aspects. It is mainly positive, even revolutionary, which will be discussed as well as its critical aspects. It used to take several months or years to complete genetic testing. This already belongs to the past. As sequencing technologies are progressing at an extremely high speed, Germany recently introduced the new Gen Diagnostics Law in February 2010. Four common diseases with genetic contribution (dementia, Parkinson's syndrome, epilepsy, and hereditary eye diseases) will be used to exemplify the latest development of human genetic testing.
Url:
DOI: 10.1515/jlm.2010.056et
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ISTEX:492F97D8E044E8092C11B0111862AFDCDEAC737ALe document en format XML
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Dr. rer. nat. Saskia Biskup, Praxis für Humangenetik und CeGaT GmbH, Paul-Ehrlich-Str. 17, 72076 Tübingen, Germany Tel.: +49 7071-5654400 Fax: +49 7071-5654422 <email xlink:href="mailto:saskia.biskup@humangenetik-tuebingen.de">saskia.biskup@humangenetik-tuebingen.de</email></corresp></author-notes><pub-date pub-type="ppub"><day>01</day><month></month><year>2010</year><string-date></string-date></pub-date><pub-date pub-type="epub"><day>15</day><month>03</month><year>2011</year></pub-date><volume>34</volume><issue>6</issue><fpage>-</fpage><lpage>-</lpage><copyright-statement>©2010 by Walter de Gruyter Berlin New York</copyright-statement><copyright-year>2010</copyright-year><related-article related-article-type="pdf" xlink:href="jlm.2010.056et.pdf"></related-article><abstract><title>Abstract</title><p>The introduction of next-generation sequencing technologies in human genetic diagnostics is a challenge to many of its aspects. 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Four common diseases with genetic contribution (dementia, Parkinson's syndrome, epilepsy, and hereditary eye diseases) will be used to exemplify the latest development of human genetic testing.</p></abstract><kwd-group><title>Keywords</title><kwd>diagnostic panels</kwd><x>, </x><kwd>next-generation sequencing</kwd><x>, </x><kwd>SOLiD technology</kwd></kwd-group><counts><fig-count count="0"></fig-count><table-count count="0"></table-count><ref-count count="4"></ref-count></counts></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Next generation sequencing in genetic diagnostics</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Next generation sequencing in genetic diagnostics 1</title></titleInfo><name type="personal"><namePart type="given">Saskia</namePart><namePart type="family">Biskup</namePart><affiliation>Praxis für Humangenetik, CeGaT GmbH, Tübingen, Germany and Hertie-Institute for Clinical Brain Research, Tübingen, Germany</affiliation></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="research-article"></genre><originInfo><publisher>Walter de Gruyter</publisher><dateIssued encoding="w3cdtf">2010-NaN-01</dateIssued><dateCreated encoding="w3cdtf">2011-03-15</dateCreated><copyrightDate encoding="w3cdtf">2010</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="references">4</extent></physicalDescription><abstract lang="en">The introduction of next-generation sequencing technologies in human genetic diagnostics is a challenge to many of its aspects. 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