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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research</title><author><name sortKey="Thompson, Rachel" sort="Thompson, Rachel" uniqKey="Thompson R" first="Rachel" last="Thompson">Rachel Thompson</name><affiliation><nlm:aff id="Aff1">Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, London, UK</nlm:aff></affiliation></author><author><name sortKey="Johnston, Louise" sort="Johnston, Louise" uniqKey="Johnston L" first="Louise" last="Johnston">Louise Johnston</name><affiliation><nlm:aff id="Aff1">Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, London, UK</nlm:aff></affiliation></author><author><name sortKey="Taruscio, Domenica" sort="Taruscio, Domenica" uniqKey="Taruscio D" first="Domenica" last="Taruscio">Domenica Taruscio</name><affiliation><nlm:aff id="Aff2">Istituto Superiore di Sanità, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Monaco, Lucia" sort="Monaco, Lucia" uniqKey="Monaco L" first="Lucia" last="Monaco">Lucia Monaco</name><affiliation><nlm:aff id="Aff3">Fondazione Telethon, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Béroud">Christophe Béroud</name><affiliation><nlm:aff id="Aff4">Aix Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Gut, Ivo G" sort="Gut, Ivo G" uniqKey="Gut I" first="Ivo G." last="Gut">Ivo G. Gut</name><affiliation><nlm:aff id="Aff5">Centre Nacional d’Anàlisi Genòmica, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Hansson, Mats G" sort="Hansson, Mats G" uniqKey="Hansson M" first="Mats G." last="Hansson">Mats G. Hansson</name><affiliation><nlm:aff id="Aff6">Uppsala University, Uppsala, Sweden</nlm:aff></affiliation></author><author><name sortKey=" Hoen, Peter Bram A" sort=" Hoen, Peter Bram A" uniqKey=" Hoen P" first="Peter-Bram A." last=" Hoen">Peter-Bram A. Hoen</name><affiliation><nlm:aff id="Aff7">Leiden University Medical Centre, Leiden, Netherlands</nlm:aff></affiliation></author><author><name sortKey="Patrinos, George P" sort="Patrinos, George P" uniqKey="Patrinos G" first="George P." last="Patrinos">George P. Patrinos</name><affiliation><nlm:aff id="Aff8">University of Patras, Patras, Greece</nlm:aff></affiliation></author><author><name sortKey="Dawkins, Hugh" sort="Dawkins, Hugh" uniqKey="Dawkins H" first="Hugh" last="Dawkins">Hugh Dawkins</name><affiliation><nlm:aff id="Aff9">Office of Population Health Genomics, Department of Health Western Australia, Perth, Australia</nlm:aff></affiliation></author><author><name sortKey="Ensini, Monica" sort="Ensini, Monica" uniqKey="Ensini M" first="Monica" last="Ensini">Monica Ensini</name><affiliation><nlm:aff id="Aff1">Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, London, UK</nlm:aff></affiliation></author><author><name sortKey="Zatloukal, Kurt" sort="Zatloukal, Kurt" uniqKey="Zatloukal K" first="Kurt" last="Zatloukal">Kurt Zatloukal</name><affiliation><nlm:aff id="Aff10">Medical University of Graz, Graz, Austria</nlm:aff></affiliation></author><author><name sortKey="Koubi, David" sort="Koubi, David" uniqKey="Koubi D" first="David" last="Koubi">David Koubi</name><affiliation><nlm:aff id="Aff11">Finovatis, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Heslop, Emma" sort="Heslop, Emma" uniqKey="Heslop E" first="Emma" last="Heslop">Emma Heslop</name><affiliation><nlm:aff id="Aff1">Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, London, UK</nlm:aff></affiliation></author><author><name sortKey="Paschall, Justin E" sort="Paschall, Justin E" uniqKey="Paschall J" first="Justin E." last="Paschall">Justin E. Paschall</name><affiliation><nlm:aff id="Aff12">European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK</nlm:aff></affiliation></author><author><name sortKey="Posada, Manuel" sort="Posada, Manuel" uniqKey="Posada M" first="Manuel" last="Posada">Manuel Posada</name><affiliation><nlm:aff id="Aff13">Instituto de Salud Carlos III, Instituto de Investigación de Enfermedades Raras, CIBERER, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Robinson, Peter N" sort="Robinson, Peter N" uniqKey="Robinson P" first="Peter N." last="Robinson">Peter N. Robinson</name><affiliation><nlm:aff id="Aff14">Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin, Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Bushby, Kate" sort="Bushby, Kate" uniqKey="Bushby K" first="Kate" last="Bushby">Kate Bushby</name><affiliation><nlm:aff id="Aff1">Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, London, UK</nlm:aff></affiliation></author><author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name><affiliation><nlm:aff id="Aff1">Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, London, UK</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25029978</idno><idno type="pmc">4124112</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124112</idno><idno type="RBID">PMC:4124112</idno><idno type="doi">10.1007/s11606-014-2908-8</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">000A07</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000A07</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research</title><author><name sortKey="Thompson, Rachel" sort="Thompson, Rachel" uniqKey="Thompson R" first="Rachel" last="Thompson">Rachel Thompson</name><affiliation><nlm:aff id="Aff1">Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, London, UK</nlm:aff></affiliation></author><author><name sortKey="Johnston, Louise" sort="Johnston, Louise" uniqKey="Johnston L" first="Louise" last="Johnston">Louise Johnston</name><affiliation><nlm:aff id="Aff1">Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, London, UK</nlm:aff></affiliation></author><author><name sortKey="Taruscio, Domenica" sort="Taruscio, Domenica" uniqKey="Taruscio D" first="Domenica" last="Taruscio">Domenica Taruscio</name><affiliation><nlm:aff id="Aff2">Istituto Superiore di Sanità, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Monaco, Lucia" sort="Monaco, Lucia" uniqKey="Monaco L" first="Lucia" last="Monaco">Lucia Monaco</name><affiliation><nlm:aff id="Aff3">Fondazione Telethon, Milan, Italy</nlm:aff></affiliation></author><author><name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Béroud">Christophe Béroud</name><affiliation><nlm:aff id="Aff4">Aix Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Gut, Ivo G" sort="Gut, Ivo G" uniqKey="Gut I" first="Ivo G." last="Gut">Ivo G. Gut</name><affiliation><nlm:aff id="Aff5">Centre Nacional d’Anàlisi Genòmica, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Hansson, Mats G" sort="Hansson, Mats G" uniqKey="Hansson M" first="Mats G." last="Hansson">Mats G. Hansson</name><affiliation><nlm:aff id="Aff6">Uppsala University, Uppsala, Sweden</nlm:aff></affiliation></author><author><name sortKey=" Hoen, Peter Bram A" sort=" Hoen, Peter Bram A" uniqKey=" Hoen P" first="Peter-Bram A." last=" Hoen">Peter-Bram A. Hoen</name><affiliation><nlm:aff id="Aff7">Leiden University Medical Centre, Leiden, Netherlands</nlm:aff></affiliation></author><author><name sortKey="Patrinos, George P" sort="Patrinos, George P" uniqKey="Patrinos G" first="George P." last="Patrinos">George P. Patrinos</name><affiliation><nlm:aff id="Aff8">University of Patras, Patras, Greece</nlm:aff></affiliation></author><author><name sortKey="Dawkins, Hugh" sort="Dawkins, Hugh" uniqKey="Dawkins H" first="Hugh" last="Dawkins">Hugh Dawkins</name><affiliation><nlm:aff id="Aff9">Office of Population Health Genomics, Department of Health Western Australia, Perth, Australia</nlm:aff></affiliation></author><author><name sortKey="Ensini, Monica" sort="Ensini, Monica" uniqKey="Ensini M" first="Monica" last="Ensini">Monica Ensini</name><affiliation><nlm:aff id="Aff1">Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, London, UK</nlm:aff></affiliation></author><author><name sortKey="Zatloukal, Kurt" sort="Zatloukal, Kurt" uniqKey="Zatloukal K" first="Kurt" last="Zatloukal">Kurt Zatloukal</name><affiliation><nlm:aff id="Aff10">Medical University of Graz, Graz, Austria</nlm:aff></affiliation></author><author><name sortKey="Koubi, David" sort="Koubi, David" uniqKey="Koubi D" first="David" last="Koubi">David Koubi</name><affiliation><nlm:aff id="Aff11">Finovatis, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Heslop, Emma" sort="Heslop, Emma" uniqKey="Heslop E" first="Emma" last="Heslop">Emma Heslop</name><affiliation><nlm:aff id="Aff1">Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, London, UK</nlm:aff></affiliation></author><author><name sortKey="Paschall, Justin E" sort="Paschall, Justin E" uniqKey="Paschall J" first="Justin E." last="Paschall">Justin E. Paschall</name><affiliation><nlm:aff id="Aff12">European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK</nlm:aff></affiliation></author><author><name sortKey="Posada, Manuel" sort="Posada, Manuel" uniqKey="Posada M" first="Manuel" last="Posada">Manuel Posada</name><affiliation><nlm:aff id="Aff13">Instituto de Salud Carlos III, Instituto de Investigación de Enfermedades Raras, CIBERER, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Robinson, Peter N" sort="Robinson, Peter N" uniqKey="Robinson P" first="Peter N." last="Robinson">Peter N. Robinson</name><affiliation><nlm:aff id="Aff14">Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin, Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Bushby, Kate" sort="Bushby, Kate" uniqKey="Bushby K" first="Kate" last="Bushby">Kate Bushby</name><affiliation><nlm:aff id="Aff1">Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, London, UK</nlm:aff></affiliation></author><author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name><affiliation><nlm:aff id="Aff1">Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, London, UK</nlm:aff></affiliation></author></analytic><series><title level="j">Journal of General Internal Medicine</title><idno type="ISSN">0884-8734</idno><idno type="eISSN">1525-1497</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><title>ABSTRACT</title><p>Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not systematically connect data across clinical phenotype, genomic data, biomaterial availability, and research/trial data sets. Such data must be linked at both an individual-patient and whole-cohort level to enable researchers to gain a complete view of their disease and patient population of interest. Data access and authorization procedures are required to allow researchers in multiple institutions to securely compare results and gain new insights. Funded by the European Union’s Seventh Framework Programme under the International Rare Diseases Research Consortium (IRDiRC), RD-Connect is a global infrastructure project initiated in November 2012 that links genomic data with registries, biobanks, and clinical bioinformatics tools to produce a central research resource for rare diseases.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Gen Intern Med</journal-id><journal-id journal-id-type="iso-abbrev">J Gen Intern Med</journal-id><journal-title-group><journal-title>Journal of General Internal Medicine</journal-title></journal-title-group><issn pub-type="ppub">0884-8734</issn><issn pub-type="epub">1525-1497</issn><publisher><publisher-name>Springer US</publisher-name><publisher-loc>Boston</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">25029978</article-id><article-id pub-id-type="pmc">4124112</article-id><article-id pub-id-type="publisher-id">2908</article-id><article-id pub-id-type="doi">10.1007/s11606-014-2908-8</article-id><article-categories><subj-group subj-group-type="heading"><subject>Review Article</subject></subj-group></article-categories><title-group><article-title>RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Thompson</surname><given-names>Rachel</given-names></name><degrees>M.Chem.</degrees><xref ref-type="aff" rid="Aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Johnston</surname><given-names>Louise</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="Aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Taruscio</surname><given-names>Domenica</given-names></name><degrees>PhD, M.D.</degrees><xref ref-type="aff" rid="Aff2"></xref></contrib><contrib contrib-type="author"><name><surname>Monaco</surname><given-names>Lucia</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="Aff3"></xref></contrib><contrib contrib-type="author"><name><surname>Béroud</surname><given-names>Christophe</given-names></name><degrees>PharmD, Ph.D.</degrees><xref ref-type="aff" rid="Aff4"></xref></contrib><contrib contrib-type="author"><name><surname>Gut</surname><given-names>Ivo G.</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="Aff5"></xref></contrib><contrib contrib-type="author"><name><surname>Hansson</surname><given-names>Mats G.</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="Aff6"></xref></contrib><contrib contrib-type="author"><name><surname>’t Hoen</surname><given-names>Peter-Bram A.</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="Aff7"></xref></contrib><contrib contrib-type="author"><name><surname>Patrinos</surname><given-names>George P.</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="Aff8"></xref></contrib><contrib contrib-type="author"><name><surname>Dawkins</surname><given-names>Hugh</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="Aff9"></xref></contrib><contrib contrib-type="author"><name><surname>Ensini</surname><given-names>Monica</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="Aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Zatloukal</surname><given-names>Kurt</given-names></name><degrees>M.D.</degrees><xref ref-type="aff" rid="Aff10"></xref></contrib><contrib contrib-type="author"><name><surname>Koubi</surname><given-names>David</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="Aff11"></xref></contrib><contrib contrib-type="author"><name><surname>Heslop</surname><given-names>Emma</given-names></name><degrees>M.Sc.</degrees><xref ref-type="aff" rid="Aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Paschall</surname><given-names>Justin E.</given-names></name><degrees>M.A.</degrees><xref ref-type="aff" rid="Aff12"></xref></contrib><contrib contrib-type="author"><name><surname>Posada</surname><given-names>Manuel</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="Aff13"></xref></contrib><contrib contrib-type="author"><name><surname>Robinson</surname><given-names>Peter N.</given-names></name><degrees>M.D., Ph.D.</degrees><xref ref-type="aff" rid="Aff14"></xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Bushby</surname><given-names>Kate</given-names></name><degrees>M.D., F.R.C.P.</degrees><address><phone>0191 228737</phone><email>kate.bushby@newcastle.ac.uk</email></address><xref ref-type="aff" rid="Aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Lochmüller</surname><given-names>Hanns</given-names></name><degrees>Ph.D., M.D.</degrees><xref ref-type="aff" rid="Aff1"></xref></contrib><aff id="Aff1"><label></label>Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, London, UK</aff><aff id="Aff2"><label></label>Istituto Superiore di Sanità, Rome, Italy</aff><aff id="Aff3"><label></label>Fondazione Telethon, Milan, Italy</aff><aff id="Aff4"><label></label>Aix Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France</aff><aff id="Aff5"><label></label>Centre Nacional d’Anàlisi Genòmica, Barcelona, Spain</aff><aff id="Aff6"><label></label>Uppsala University, Uppsala, Sweden</aff><aff id="Aff7"><label></label>Leiden University Medical Centre, Leiden, Netherlands</aff><aff id="Aff8"><label></label>University of Patras, Patras, Greece</aff><aff id="Aff9"><label></label>Office of Population Health Genomics, Department of Health Western Australia, Perth, Australia</aff><aff id="Aff10"><label></label>Medical University of Graz, Graz, Austria</aff><aff id="Aff11"><label></label>Finovatis, Lyon, France</aff><aff id="Aff12"><label></label>European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK</aff><aff id="Aff13"><label></label>Instituto de Salud Carlos III, Instituto de Investigación de Enfermedades Raras, CIBERER, Madrid, Spain</aff><aff id="Aff14"><label></label>Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin, Berlin, Germany</aff></contrib-group><pub-date pub-type="epub"><day>17</day><month>7</month><year>2014</year></pub-date><pub-date pub-type="ppub"><month>8</month><year>2014</year></pub-date><volume>29</volume><issue>Suppl 3</issue><fpage>780</fpage><lpage>787</lpage><permissions><copyright-statement>© Society of General Internal Medicine 2014</copyright-statement></permissions><abstract id="Abs1"><title>ABSTRACT</title><p>Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not systematically connect data across clinical phenotype, genomic data, biomaterial availability, and research/trial data sets. Such data must be linked at both an individual-patient and whole-cohort level to enable researchers to gain a complete view of their disease and patient population of interest. Data access and authorization procedures are required to allow researchers in multiple institutions to securely compare results and gain new insights. Funded by the European Union’s Seventh Framework Programme under the International Rare Diseases Research Consortium (IRDiRC), RD-Connect is a global infrastructure project initiated in November 2012 that links genomic data with registries, biobanks, and clinical bioinformatics tools to produce a central research resource for rare diseases.</p></abstract><kwd-group xml:lang="en"><title>KEY WORDS</title><kwd>genetics</kwd><kwd>medical informatics</kwd><kwd>databases</kwd><kwd>clinical trials</kwd><kwd>Electronic health records</kwd></kwd-group><custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name><meta-value>© Society of General Internal Medicine 2014</meta-value></custom-meta></custom-meta-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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