Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit.
Identifieur interne : 002624 ( PubMed/Corpus ); précédent : 002623; suivant : 002625Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit.
Auteurs : P. Ostergaard ; M A Simpson ; Steve JefferySource :
- Clinical genetics [ 1399-0004 ] ; 2011.
English descriptors
- KwdEn :
- MESH :
- congenital : Lymphedema.
- diagnosis : Lymphedema.
- genetics : Lymphedema.
- methods : High-Throughput Nucleotide Sequencing.
- Genetic Linkage, Humans, Sequence Analysis, DNA.
Abstract
Primary lymphoedema is a clinically and genetically heterogeneous group of disorders characterized by disruption of the lymphatic system. To date, the majority of the causative genes in primary lymphoedema have been identified through linkage analysis in large families with multiple affected subjects. Studies aimed at isolating additional genes responsible for primary lymphoedema have been hampered by cohorts comprised primarily of sporadic cases and small affected kindreds. In the absence of genetic heterogeneity, recent development of massively parallel DNA sequencing technology, specifically exome sequencing, has provided novel paradigms for disease gene identification in such cohorts. In this review, we summarize the novel approaches to disease gene discovery with massively parallel sequencing also known as Next Generation Sequencing (NGS), and show how the selection of unrelated affected cases from clinically homogenous phenotypic subclassifications is proving to be a successful approach for disease gene discovery in primary lymphoedema.
DOI: 10.1111/j.1399-0004.2011.01706.x
PubMed: 21595654
Links to Exploration step
pubmed:21595654Le document en format XML
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Ostergaard</name><affiliation><nlm:affiliation>Medical Genetics Unit, Biomedical Sciences, St George's University of London, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Simpson, M A" sort="Simpson, M A" uniqKey="Simpson M" first="M A" last="Simpson">M A Simpson</name></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2011">2011</date><idno type="RBID">pubmed:21595654</idno><idno type="pmid">21595654</idno><idno type="doi">10.1111/j.1399-0004.2011.01706.x</idno><idno type="wicri:Area/PubMed/Corpus">002624</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002624</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit.</title><author><name sortKey="Ostergaard, P" sort="Ostergaard, P" uniqKey="Ostergaard P" first="P" last="Ostergaard">P. Ostergaard</name><affiliation><nlm:affiliation>Medical Genetics Unit, Biomedical Sciences, St George's University of London, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Simpson, M A" sort="Simpson, M A" uniqKey="Simpson M" first="M A" last="Simpson">M A Simpson</name></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name></author></analytic><series><title level="j">Clinical genetics</title><idno type="eISSN">1399-0004</idno><imprint><date when="2011" type="published">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetic Linkage</term><term>High-Throughput Nucleotide Sequencing (methods)</term><term>Humans</term><term>Lymphedema (congenital)</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>High-Throughput Nucleotide Sequencing</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Genetic Linkage</term><term>Humans</term><term>Sequence Analysis, DNA</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Primary lymphoedema is a clinically and genetically heterogeneous group of disorders characterized by disruption of the lymphatic system. To date, the majority of the causative genes in primary lymphoedema have been identified through linkage analysis in large families with multiple affected subjects. Studies aimed at isolating additional genes responsible for primary lymphoedema have been hampered by cohorts comprised primarily of sporadic cases and small affected kindreds. In the absence of genetic heterogeneity, recent development of massively parallel DNA sequencing technology, specifically exome sequencing, has provided novel paradigms for disease gene identification in such cohorts. In this review, we summarize the novel approaches to disease gene discovery with massively parallel sequencing also known as Next Generation Sequencing (NGS), and show how the selection of unrelated affected cases from clinically homogenous phenotypic subclassifications is proving to be a successful approach for disease gene discovery in primary lymphoedema.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">21595654</PMID><DateCreated><Year>2011</Year><Month>07</Month><Day>13</Day></DateCreated><DateCompleted><Year>2011</Year><Month>11</Month><Day>08</Day></DateCompleted><DateRevised><Year>2017</Year><Month>09</Month><Day>02</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1399-0004</ISSN><JournalIssue CitedMedium="Internet"><Volume>80</Volume><Issue>2</Issue><PubDate><Year>2011</Year><Month>Aug</Month></PubDate></JournalIssue><Title>Clinical genetics</Title><ISOAbbreviation>Clin. Genet.</ISOAbbreviation></Journal><ArticleTitle>Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit.</ArticleTitle><Pagination><MedlinePgn>110-6</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1111/j.1399-0004.2011.01706.x</ELocationID><Abstract><AbstractText>Primary lymphoedema is a clinically and genetically heterogeneous group of disorders characterized by disruption of the lymphatic system. To date, the majority of the causative genes in primary lymphoedema have been identified through linkage analysis in large families with multiple affected subjects. Studies aimed at isolating additional genes responsible for primary lymphoedema have been hampered by cohorts comprised primarily of sporadic cases and small affected kindreds. In the absence of genetic heterogeneity, recent development of massively parallel DNA sequencing technology, specifically exome sequencing, has provided novel paradigms for disease gene identification in such cohorts. In this review, we summarize the novel approaches to disease gene discovery with massively parallel sequencing also known as Next Generation Sequencing (NGS), and show how the selection of unrelated affected cases from clinically homogenous phenotypic subclassifications is proving to be a successful approach for disease gene discovery in primary lymphoedema.</AbstractText><CopyrightInformation>© 2011 John Wiley & Sons A/S.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ostergaard</LastName><ForeName>P</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Medical Genetics Unit, Biomedical Sciences, St George's University of London, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Simpson</LastName><ForeName>M A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Jeffery</LastName><ForeName>Steve</ForeName><Initials>S</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>BHF_PG/10/58/28477</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant><Grant><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2011</Year><Month>06</Month><Day>13</Day></ArticleDate></Article><MedlineJournalInfo><Country>Denmark</Country><MedlineTA>Clin Genet</MedlineTA><NlmUniqueID>0253664</NlmUniqueID><ISSNLinking>0009-9163</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D008040" MajorTopicYN="N">Genetic Linkage</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D059014" MajorTopicYN="N">High-Throughput Nucleotide Sequencing</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="Y">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000151" MajorTopicYN="N">congenital</QualifierName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D017422" MajorTopicYN="Y">Sequence Analysis, DNA</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2011</Year><Month>5</Month><Day>21</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2011</Year><Month>5</Month><Day>21</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2011</Year><Month>11</Month><Day>9</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">21595654</ArticleId><ArticleId IdType="doi">10.1111/j.1399-0004.2011.01706.x</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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