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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Toward a mtDNA Locus-Specific Mutation Database Using the LOVD Platform</title><author><name sortKey="Elson, Joanna L" sort="Elson, Joanna L" uniqKey="Elson J" first="Joanna L." last="Elson">Joanna L. Elson</name><affiliation><nlm:aff id="A1">Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Mitochondrial Research Group, Institute of Genetic Medicine, Centre for Life, Central Parkway, Newcastle University, Newcastle upon Tyne, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name><affiliation><nlm:aff id="A3">Neurogenetics Unit, Department of Molecular Neuroscience, National Hospital for Neurology and Neurosurgery, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Procaccio, Vincent" sort="Procaccio, Vincent" uniqKey="Procaccio V" first="Vincent" last="Procaccio">Vincent Procaccio</name><affiliation><nlm:aff id="A4">LUNAM University, Department of Biochemistry and Genetics, Angers University Hospital Angers, UMR CNRS 6214-INSERM U1083, France</nlm:aff></affiliation></author><author><name sortKey="Yarham, John W" sort="Yarham, John W" uniqKey="Yarham J" first="John W." last="Yarham">John W. Yarham</name><affiliation><nlm:aff id="A1">Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Salas, Antonio" sort="Salas, Antonio" uniqKey="Salas A" first="Antonio" last="Salas">Antonio Salas</name><affiliation><nlm:aff id="A5">Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Medicina Legal, Facultade de Medicina, Universidad de Santiago de Compostela, Galicia, Spain</nlm:aff></affiliation></author><author><name sortKey="Kong, Qing Peng" sort="Kong, Qing Peng" uniqKey="Kong Q" first="Qing-Peng" last="Kong">Qing-Peng Kong</name><affiliation><nlm:aff id="A6">Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, P. R. China</nlm:aff></affiliation></author><author><name sortKey="Van Der Westhuizen, Francois H" sort="Van Der Westhuizen, Francois H" uniqKey="Van Der Westhuizen F" first="Francois H." last="Van Der Westhuizen">Francois H. Van Der Westhuizen</name><affiliation><nlm:aff id="A7">Centre for Human Metabonomics, North-West University, Potchefstroom, South Africa</nlm:aff></affiliation></author><author><name sortKey="Pitceathly, Robert D S" sort="Pitceathly, Robert D S" uniqKey="Pitceathly R" first="Robert D. S." last="Pitceathly">Robert D. S. Pitceathly</name><affiliation><nlm:aff id="A8">MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Thorburn, David R" sort="Thorburn, David R" uniqKey="Thorburn D" first="David R." last="Thorburn">David R. Thorburn</name><affiliation><nlm:aff id="A9">Murdoch Childrens Research Institute and University of Melbourne Department of Paediatrics, The Royal Children’s Hospital, Parkville, VIC, Australia</nlm:aff></affiliation></author><author><name sortKey="Lott, Marie T" sort="Lott, Marie T" uniqKey="Lott M" first="Marie T." last="Lott">Marie T. Lott</name><affiliation><nlm:aff id="A10">Center of Mitochondrial and Epigenomic Medicine, Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA</nlm:aff></affiliation></author><author><name sortKey="Wallace, Douglas C" sort="Wallace, Douglas C" uniqKey="Wallace D" first="Douglas C." last="Wallace">Douglas C. Wallace</name><affiliation><nlm:aff id="A10">Center of Mitochondrial and Epigenomic Medicine, Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA</nlm:aff></affiliation></author><author><name sortKey="Taylor, Robert W" sort="Taylor, Robert W" uniqKey="Taylor R" first="Robert W." last="Taylor">Robert W. Taylor</name><affiliation><nlm:aff id="A1">Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Mcfarland, Robert" sort="Mcfarland, Robert" uniqKey="Mcfarland R" first="Robert" last="Mcfarland">Robert Mcfarland</name><affiliation><nlm:aff id="A1">Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22581690</idno><idno type="pmc">4394605</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394605</idno><idno type="RBID">PMC:4394605</idno><idno type="doi">10.1002/humu.22118</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">002113</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002113</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Toward a mtDNA Locus-Specific Mutation Database Using the LOVD Platform</title><author><name sortKey="Elson, Joanna L" sort="Elson, Joanna L" uniqKey="Elson J" first="Joanna L." last="Elson">Joanna L. Elson</name><affiliation><nlm:aff id="A1">Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Mitochondrial Research Group, Institute of Genetic Medicine, Centre for Life, Central Parkway, Newcastle University, Newcastle upon Tyne, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name><affiliation><nlm:aff id="A3">Neurogenetics Unit, Department of Molecular Neuroscience, National Hospital for Neurology and Neurosurgery, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Procaccio, Vincent" sort="Procaccio, Vincent" uniqKey="Procaccio V" first="Vincent" last="Procaccio">Vincent Procaccio</name><affiliation><nlm:aff id="A4">LUNAM University, Department of Biochemistry and Genetics, Angers University Hospital Angers, UMR CNRS 6214-INSERM U1083, France</nlm:aff></affiliation></author><author><name sortKey="Yarham, John W" sort="Yarham, John W" uniqKey="Yarham J" first="John W." last="Yarham">John W. Yarham</name><affiliation><nlm:aff id="A1">Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Salas, Antonio" sort="Salas, Antonio" uniqKey="Salas A" first="Antonio" last="Salas">Antonio Salas</name><affiliation><nlm:aff id="A5">Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Medicina Legal, Facultade de Medicina, Universidad de Santiago de Compostela, Galicia, Spain</nlm:aff></affiliation></author><author><name sortKey="Kong, Qing Peng" sort="Kong, Qing Peng" uniqKey="Kong Q" first="Qing-Peng" last="Kong">Qing-Peng Kong</name><affiliation><nlm:aff id="A6">Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, P. R. China</nlm:aff></affiliation></author><author><name sortKey="Van Der Westhuizen, Francois H" sort="Van Der Westhuizen, Francois H" uniqKey="Van Der Westhuizen F" first="Francois H." last="Van Der Westhuizen">Francois H. Van Der Westhuizen</name><affiliation><nlm:aff id="A7">Centre for Human Metabonomics, North-West University, Potchefstroom, South Africa</nlm:aff></affiliation></author><author><name sortKey="Pitceathly, Robert D S" sort="Pitceathly, Robert D S" uniqKey="Pitceathly R" first="Robert D. S." last="Pitceathly">Robert D. S. Pitceathly</name><affiliation><nlm:aff id="A8">MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Thorburn, David R" sort="Thorburn, David R" uniqKey="Thorburn D" first="David R." last="Thorburn">David R. Thorburn</name><affiliation><nlm:aff id="A9">Murdoch Childrens Research Institute and University of Melbourne Department of Paediatrics, The Royal Children’s Hospital, Parkville, VIC, Australia</nlm:aff></affiliation></author><author><name sortKey="Lott, Marie T" sort="Lott, Marie T" uniqKey="Lott M" first="Marie T." last="Lott">Marie T. Lott</name><affiliation><nlm:aff id="A10">Center of Mitochondrial and Epigenomic Medicine, Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA</nlm:aff></affiliation></author><author><name sortKey="Wallace, Douglas C" sort="Wallace, Douglas C" uniqKey="Wallace D" first="Douglas C." last="Wallace">Douglas C. Wallace</name><affiliation><nlm:aff id="A10">Center of Mitochondrial and Epigenomic Medicine, Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA</nlm:aff></affiliation></author><author><name sortKey="Taylor, Robert W" sort="Taylor, Robert W" uniqKey="Taylor R" first="Robert W." last="Taylor">Robert W. Taylor</name><affiliation><nlm:aff id="A1">Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Mcfarland, Robert" sort="Mcfarland, Robert" uniqKey="Mcfarland R" first="Robert" last="Mcfarland">Robert Mcfarland</name><affiliation><nlm:aff id="A1">Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom</nlm:aff></affiliation></author></analytic><series><title level="j">Human mutation</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">The Human Variome Project (HVP) is a global effort to collect and curate all human genetic variation affecting health. Mutations of mitochondrial DNA (mtDNA) are an important cause of neurogenetic disease in humans; however, identification of the pathogenic mutations responsible can be problematic. In this article, we provide explanations as to why and suggest how such difficulties might be overcome. We put forward a case in support of a new Locus Specific Mutation Database (LSDB) implemented using the Leiden Open-source Variation Database (LOVD) system that will not only list primary mutations, but also present the evidence supporting their role in disease. Critically, we feel that this new database should have the capacity to store information on the observed phenotypes alongside the genetic variation, thereby facilitating our understanding of the complex and variable presentation of mtDNA disease. LOVD supports fast queries of both seen and hidden data and allows storage of sequence variants from high-throughput sequence analysis. The LOVD platform will allow construction of a secure mtDNA database; one that can fully utilize currently available data, as well as that being generated by high-throughput sequencing, to link genotype with phenotype enhancing our understanding of mitochondrial disease, with a view to providing better prognostic information.</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>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9215429</journal-id><journal-id journal-id-type="pubmed-jr-id">2408</journal-id><journal-id journal-id-type="nlm-ta">Hum Mutat</journal-id><journal-id journal-id-type="iso-abbrev">Hum. Mutat.</journal-id><journal-title-group><journal-title>Human mutation</journal-title></journal-title-group><issn pub-type="ppub">1059-7794</issn><issn pub-type="epub">1098-1004</issn></journal-meta><article-meta><article-id pub-id-type="pmid">22581690</article-id><article-id pub-id-type="pmc">4394605</article-id><article-id pub-id-type="doi">10.1002/humu.22118</article-id><article-id pub-id-type="manuscript">NIHMS677722</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Toward a mtDNA Locus-Specific Mutation Database Using the LOVD Platform</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Elson</surname><given-names>Joanna L.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref rid="FN1" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Sweeney</surname><given-names>Mary G.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Procaccio</surname><given-names>Vincent</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Yarham</surname><given-names>John W.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Salas</surname><given-names>Antonio</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Kong</surname><given-names>Qing-Peng</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>van der Westhuizen</surname><given-names>Francois H.</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Pitceathly</surname><given-names>Robert D.S.</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Thorburn</surname><given-names>David R.</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Lott</surname><given-names>Marie T.</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Wallace</surname><given-names>Douglas C.</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Taylor</surname><given-names>Robert W.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>McFarland</surname><given-names>Robert</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib></contrib-group><aff id="A1"><label>1</label>Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom</aff><aff id="A2"><label>2</label>Mitochondrial Research Group, Institute of Genetic Medicine, Centre for Life, Central Parkway, Newcastle University, Newcastle upon Tyne, United Kingdom</aff><aff id="A3"><label>3</label>Neurogenetics Unit, Department of Molecular Neuroscience, National Hospital for Neurology and Neurosurgery, London, United Kingdom</aff><aff id="A4"><label>4</label>LUNAM University, Department of Biochemistry and Genetics, Angers University Hospital Angers, UMR CNRS 6214-INSERM U1083, France</aff><aff id="A5"><label>5</label>Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Medicina Legal, Facultade de Medicina, Universidad de Santiago de Compostela, Galicia, Spain</aff><aff id="A6"><label>6</label>Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, P. R. China</aff><aff id="A7"><label>7</label>Centre for Human Metabonomics, North-West University, Potchefstroom, South Africa</aff><aff id="A8"><label>8</label>MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom</aff><aff id="A9"><label>9</label>Murdoch Childrens Research Institute and University of Melbourne Department of Paediatrics, The Royal Children’s Hospital, Parkville, VIC, Australia</aff><aff id="A10"><label>10</label>Center of Mitochondrial and Epigenomic Medicine, Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA</aff><author-notes><corresp id="FN1"><label>*</label>Correspondence to: Joanna L. Elson, Institute of Genetic Medicine, Department of Statistical Genetics, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom. <email>joanna.elson@ncl.ac.uk</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>7</day><month>4</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>02</day><month>7</month><year>2012</year></pub-date><pub-date pub-type="ppub"><month>9</month><year>2012</year></pub-date><pub-date pub-type="pmc-release"><day>13</day><month>4</month><year>2015</year></pub-date><volume>33</volume><issue>9</issue><fpage>1352</fpage><lpage>1358</lpage><pmc-comment>elocation-id from pubmed: 10.1002/humu.22118</pmc-comment>
<permissions><copyright-statement>© 2012 Wiley Periodicals, Inc.</copyright-statement><copyright-year>2012</copyright-year></permissions><abstract><p id="P1">The Human Variome Project (HVP) is a global effort to collect and curate all human genetic variation affecting health. Mutations of mitochondrial DNA (mtDNA) are an important cause of neurogenetic disease in humans; however, identification of the pathogenic mutations responsible can be problematic. In this article, we provide explanations as to why and suggest how such difficulties might be overcome. We put forward a case in support of a new Locus Specific Mutation Database (LSDB) implemented using the Leiden Open-source Variation Database (LOVD) system that will not only list primary mutations, but also present the evidence supporting their role in disease. Critically, we feel that this new database should have the capacity to store information on the observed phenotypes alongside the genetic variation, thereby facilitating our understanding of the complex and variable presentation of mtDNA disease. LOVD supports fast queries of both seen and hidden data and allows storage of sequence variants from high-throughput sequence analysis. The LOVD platform will allow construction of a secure mtDNA database; one that can fully utilize currently available data, as well as that being generated by high-throughput sequencing, to link genotype with phenotype enhancing our understanding of mitochondrial disease, with a view to providing better prognostic information.</p></abstract><kwd-group><kwd>MtDNA</kwd><kwd>LOVD</kwd><kwd>mutation</kwd><kwd>human variome project</kwd><kwd>haplogroup</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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