Diagnostic interpretation of array data using public databases and internet sources
Identifieur interne : 001643 ( Istex/Corpus ); précédent : 001642; suivant : 001644Diagnostic interpretation of array data using public databases and internet sources
Auteurs : Nicole De Leeuw ; Trijnie Dijkhuizen ; Jayne Y. Hehir-Kwa ; Nigel P. Carter ; Lars Feuk ; Helen V. Firth ; Robert M. Kuhn ; David H. Ledbetter ; Christa Lese Martin ; Conny M. A. Van Ravenswaaij-Arts ; Steven W. Scherer ; Soheil Shams ; Steven Van Vooren ; Rolf Sijmons ; Morris Swertz ; Ros HastingsSource :
- Human Mutation [ 1059-7794 ] ; 2012-06.
English descriptors
- KwdEn :
Abstract
The range of commercially available array platforms and analysis software packages is expanding and their utility is improving, making reliable detection of copy‐number variants (CNVs) relatively straightforward. Reliable interpretation of CNV data, however, is often difficult and requires expertise. With our knowledge of the human genome growing rapidly, applications for array testing continuously broadening, and the resolution of CNV detection increasing, this leads to great complexity in interpreting what can be daunting data. Correct CNV interpretation and optimal use of the genotype information provided by single‐nucleotide polymorphism probes on an array depends largely on knowledge present in various resources. In addition to the availability of host laboratories' own datasets and national registries, there are several public databases and Internet resources with genotype and phenotype information that can be used for array data interpretation. With so many resources now available, it is important to know which are fit‐for‐purpose in a diagnostic setting. We summarize the characteristics of the most commonly used Internet databases and resources, and propose a general data interpretation strategy that can be used for comparative hybridization, comparative intensity, and genotype‐based array data. Hum Mutat 33:930–940, 2012. © 2012 Wiley Periodicals, Inc.
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DOI: 10.1002/humu.22049
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ISTEX:48ED99E15E5C0D637F4412A409E02C16FF88D9C5Le document en format XML
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Firth</name><affiliation><mods:affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Medical Genetics, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Kuhn, Robert M" sort="Kuhn, Robert M" uniqKey="Kuhn R" first="Robert M." last="Kuhn">Robert M. Kuhn</name><affiliation><mods:affiliation>Center for Biomolecular Science and Engineering, University of California, Santa Cruz, California</mods:affiliation></affiliation></author><author><name sortKey="Ledbetter, David H" sort="Ledbetter, David H" uniqKey="Ledbetter D" first="David H." last="Ledbetter">David H. Ledbetter</name><affiliation><mods:affiliation>Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania</mods:affiliation></affiliation></author><author><name sortKey="Martin, Christa Lese" sort="Martin, Christa Lese" uniqKey="Martin C" first="Christa Lese" last="Martin">Christa Lese Martin</name><affiliation><mods:affiliation>Department of Human Genetics, Emory Genetics Laboratory, Emory University School of Medicine, Atlanta, Georgia</mods:affiliation></affiliation></author><author><name sortKey="Van Ravenswaaij Rts, Conny M A" sort="Van Ravenswaaij Rts, Conny M A" uniqKey="Van Ravenswaaij Rts C" first="Conny M. A." last="Van Ravenswaaij-Arts">Conny M. A. 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Scherer</name><affiliation><mods:affiliation>McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada</mods:affiliation></affiliation></author><author><name sortKey="Shams, Soheil" sort="Shams, Soheil" uniqKey="Shams S" first="Soheil" last="Shams">Soheil Shams</name><affiliation><mods:affiliation>BioDiscovery, Inc., El Segundo, California</mods:affiliation></affiliation></author><author><name sortKey="Van Vooren, Steven" sort="Van Vooren, Steven" uniqKey="Van Vooren S" first="Steven" last="Van Vooren">Steven Van Vooren</name><affiliation><mods:affiliation>Cartagenia, Leuven, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Sijmons, Rolf" sort="Sijmons, Rolf" uniqKey="Sijmons R" first="Rolf" last="Sijmons">Rolf Sijmons</name><affiliation><mods:affiliation>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Swertz, Morris" sort="Swertz, Morris" uniqKey="Swertz M" first="Morris" last="Swertz">Morris Swertz</name><affiliation><mods:affiliation>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Hastings, Ros" sort="Hastings, Ros" uniqKey="Hastings R" first="Ros" last="Hastings">Ros Hastings</name><affiliation><mods:affiliation>Cytogenetic European Quality Assessment and United Kingdom National External Quality Assessment Service for Clinical Cytogenetics, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, United Kingdom</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Mutation</title><title level="j" type="abbrev">Hum. Mutat.</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2012-06">2012-06</date><biblScope unit="volume">33</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="930">930</biblScope><biblScope unit="page" to="940">940</biblScope></imprint><idno type="ISSN">1059-7794</idno></series><idno type="istex">48ED99E15E5C0D637F4412A409E02C16FF88D9C5</idno><idno type="DOI">10.1002/humu.22049</idno><idno type="ArticleID">HUMU22049</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>CNV</term><term>array</term><term>classification</term><term>data interpretation</term><term>database</term><term>diagnostic</term><term>genome wide</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The range of commercially available array platforms and analysis software packages is expanding and their utility is improving, making reliable detection of copy‐number variants (CNVs) relatively straightforward. Reliable interpretation of CNV data, however, is often difficult and requires expertise. With our knowledge of the human genome growing rapidly, applications for array testing continuously broadening, and the resolution of CNV detection increasing, this leads to great complexity in interpreting what can be daunting data. Correct CNV interpretation and optimal use of the genotype information provided by single‐nucleotide polymorphism probes on an array depends largely on knowledge present in various resources. In addition to the availability of host laboratories' own datasets and national registries, there are several public databases and Internet resources with genotype and phenotype information that can be used for array data interpretation. With so many resources now available, it is important to know which are fit‐for‐purpose in a diagnostic setting. We summarize the characteristics of the most commonly used Internet databases and resources, and propose a general data interpretation strategy that can be used for comparative hybridization, comparative intensity, and genotype‐based array data. Hum Mutat 33:930–940, 2012. © 2012 Wiley Periodicals, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Nicole de Leeuw</name><affiliations><json:string>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</json:string></affiliations></json:item><json:item><name>Trijnie Dijkhuizen</name><affiliations><json:string>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</json:string></affiliations></json:item><json:item><name>Jayne Y. Hehir‐Kwa</name><affiliations><json:string>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</json:string></affiliations></json:item><json:item><name>Nigel P. Carter</name><affiliations><json:string>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom</json:string></affiliations></json:item><json:item><name>Lars Feuk</name><affiliations><json:string>Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Sweden</json:string></affiliations></json:item><json:item><name>Helen V. Firth</name><affiliations><json:string>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom</json:string><json:string>Department of Medical Genetics, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom</json:string></affiliations></json:item><json:item><name>Robert M. Kuhn</name><affiliations><json:string>Center for Biomolecular Science and Engineering, University of California, Santa Cruz, California</json:string></affiliations></json:item><json:item><name>David H. Ledbetter</name><affiliations><json:string>Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania</json:string></affiliations></json:item><json:item><name>Christa Lese Martin</name><affiliations><json:string>Department of Human Genetics, Emory Genetics Laboratory, Emory University School of Medicine, Atlanta, Georgia</json:string></affiliations></json:item><json:item><name>Conny M. A. van Ravenswaaij‐Arts</name><affiliations><json:string>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</json:string></affiliations></json:item><json:item><name>Steven W. Scherer</name><affiliations><json:string>McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada</json:string><json:string>The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada</json:string></affiliations></json:item><json:item><name>Soheil Shams</name><affiliations><json:string>BioDiscovery, Inc., El Segundo, California</json:string></affiliations></json:item><json:item><name>Steven Van Vooren</name><affiliations><json:string>Cartagenia, Leuven, Belgium</json:string></affiliations></json:item><json:item><name>Rolf Sijmons</name><affiliations><json:string>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</json:string></affiliations></json:item><json:item><name>Morris Swertz</name><affiliations><json:string>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</json:string></affiliations></json:item><json:item><name>Ros Hastings</name><affiliations><json:string>Cytogenetic European Quality Assessment and United Kingdom National External Quality Assessment Service for Clinical Cytogenetics, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, United Kingdom</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>array</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>classification</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>CNV</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>database</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>data interpretation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>diagnostic</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genome wide</value></json:item></subject><articleId><json:string>HUMU22049</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>The range of commercially available array platforms and analysis software packages is expanding and their utility is improving, making reliable detection of copy‐number variants (CNVs) relatively straightforward. Reliable interpretation of CNV data, however, is often difficult and requires expertise. With our knowledge of the human genome growing rapidly, applications for array testing continuously broadening, and the resolution of CNV detection increasing, this leads to great complexity in interpreting what can be daunting data. Correct CNV interpretation and optimal use of the genotype information provided by single‐nucleotide polymorphism probes on an array depends largely on knowledge present in various resources. In addition to the availability of host laboratories' own datasets and national registries, there are several public databases and Internet resources with genotype and phenotype information that can be used for array data interpretation. With so many resources now available, it is important to know which are fit‐for‐purpose in a diagnostic setting. We summarize the characteristics of the most commonly used Internet databases and resources, and propose a general data interpretation strategy that can be used for comparative hybridization, comparative intensity, and genotype‐based array data. Hum Mutat 33:930–940, 2012. © 2012 Wiley Periodicals, Inc.</abstract><qualityIndicators><score>7.316</score><pdfVersion>1.3</pdfVersion><pdfPageSize>595.245 x 793.66 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>7</keywordCount><abstractCharCount>1383</abstractCharCount><pdfWordCount>8515</pdfWordCount><pdfCharCount>54564</pdfCharCount><pdfPageCount>11</pdfPageCount><abstractWordCount>193</abstractWordCount></qualityIndicators><title>Diagnostic interpretation of array data using public databases and internet sources</title><genre><json:string>article</json:string></genre><host><volume>33</volume><publisherId><json:string>HUMU</json:string></publisherId><pages><total>11</total><last>940</last><first>930</first></pages><issn><json:string>1059-7794</json:string></issn><issue>6</issue><author><json:item><name>Birgit Sikkema‐Raddatz</name></json:item><json:item><name>Rolf H. 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Box 9101, 6500 HB Nijmegen, the Netherlands.</p></note><affiliation>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</affiliation></author><author xml:id="author-2"><persName><forename type="first">Trijnie</forename><surname>Dijkhuizen</surname></persName><affiliation>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</affiliation></author><author xml:id="author-3"><persName><forename type="first">Jayne Y.</forename><surname>Hehir‐Kwa</surname></persName><affiliation>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</affiliation></author><author xml:id="author-4"><persName><forename type="first">Nigel P.</forename><surname>Carter</surname></persName><affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom</affiliation></author><author xml:id="author-5"><persName><forename type="first">Lars</forename><surname>Feuk</surname></persName><affiliation>Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Sweden</affiliation></author><author xml:id="author-6"><persName><forename type="first">Helen V.</forename><surname>Firth</surname></persName><affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom</affiliation><affiliation>Department of Medical Genetics, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom</affiliation></author><author xml:id="author-7"><persName><forename type="first">Robert M.</forename><surname>Kuhn</surname></persName><affiliation>Center for Biomolecular Science and Engineering, University of California, Santa Cruz, California</affiliation></author><author xml:id="author-8"><persName><forename type="first">David H.</forename><surname>Ledbetter</surname></persName><affiliation>Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania</affiliation></author><author xml:id="author-9"><persName><forename type="first">Christa Lese</forename><surname>Martin</surname></persName><affiliation>Department of Human Genetics, Emory Genetics Laboratory, Emory University School of Medicine, Atlanta, Georgia</affiliation></author><author xml:id="author-10"><persName><forename type="first">Conny M. A.</forename><surname>van Ravenswaaij‐Arts</surname></persName><affiliation>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</affiliation></author><author xml:id="author-11"><persName><forename type="first">Steven W.</forename><surname>Scherer</surname></persName><affiliation>McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada</affiliation><affiliation>The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada</affiliation></author><author xml:id="author-12"><persName><forename type="first">Soheil</forename><surname>Shams</surname></persName><affiliation>BioDiscovery, Inc., El Segundo, California</affiliation></author><author xml:id="author-13"><persName><forename type="first">Steven</forename><surname>Van Vooren</surname></persName><affiliation>Cartagenia, Leuven, Belgium</affiliation></author><author xml:id="author-14"><persName><forename type="first">Rolf</forename><surname>Sijmons</surname></persName><affiliation>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</affiliation></author><author xml:id="author-15"><persName><forename type="first">Morris</forename><surname>Swertz</surname></persName><affiliation>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</affiliation></author><author xml:id="author-16"><persName><forename type="first">Ros</forename><surname>Hastings</surname></persName><affiliation>Cytogenetic European Quality Assessment and United Kingdom National External Quality Assessment Service for Clinical Cytogenetics, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, United Kingdom</affiliation></author></analytic><monogr><title level="j">Human Mutation</title><title level="j" type="abbrev">Hum. 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Reliable interpretation of CNV data, however, is often difficult and requires expertise. With our knowledge of the human genome growing rapidly, applications for array testing continuously broadening, and the resolution of CNV detection increasing, this leads to great complexity in interpreting what can be daunting data. Correct CNV interpretation and optimal use of the genotype information provided by single‐nucleotide polymorphism probes on an array depends largely on knowledge present in various resources. In addition to the availability of host laboratories' own datasets and national registries, there are several public databases and Internet resources with genotype and phenotype information that can be used for array data interpretation. With so many resources now available, it is important to know which are fit‐for‐purpose in a diagnostic setting. We summarize the characteristics of the most commonly used Internet databases and resources, and propose a general data interpretation strategy that can be used for comparative hybridization, comparative intensity, and genotype‐based array data. 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Kingdom</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">array</keyword><keyword xml:id="kwd2">classification</keyword><keyword xml:id="kwd3">CNV</keyword><keyword xml:id="kwd4">database</keyword><keyword xml:id="kwd5">data interpretation</keyword><keyword xml:id="kwd6">diagnostic</keyword><keyword xml:id="kwd7">genome wide</keyword></keywordGroup><fundingInfo><fundingAgency>DECIPHER is supported by the Wellcome Trust (grant number WT077008)</fundingAgency></fundingInfo><supportingInformation><p> Additional Supporting information may be found in the online version of this article </p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:10597794:media:humu22049:humu_22049_sm_SuppInfo"></mediaResource><caption>Supporting Information</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The range of commercially available array platforms and analysis software packages is expanding and their utility is improving, making reliable detection of copy‐number variants (CNVs) relatively straightforward. Reliable interpretation of CNV data, however, is often difficult and requires expertise. With our knowledge of the human genome growing rapidly, applications for array testing continuously broadening, and the resolution of CNV detection increasing, this leads to great complexity in interpreting what can be daunting data. Correct CNV interpretation and optimal use of the genotype information provided by single‐nucleotide polymorphism probes on an array depends largely on knowledge present in various resources. In addition to the availability of host laboratories' own datasets and national registries, there are several public databases and Internet resources with genotype and phenotype information that can be used for array data interpretation. With so many resources now available, it is important to know which are fit‐for‐purpose in a diagnostic setting. We summarize the characteristics of the most commonly used Internet databases and resources, and propose a general data interpretation strategy that can be used for comparative hybridization, comparative intensity, and genotype‐based array data. Hum Mutat 33:930–940, 2012. © 2012 Wiley Periodicals, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>For the Focus on CNV Detection with Diagnostic Arrays</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Diagnostic interpretation of array data using public databases and internet sources</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Diagnostic interpretation of array data using public databases and internet sources</title></titleInfo><name type="personal"><namePart type="given">Nicole</namePart><namePart type="family">de Leeuw</namePart><affiliation>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</affiliation><description>Correspondence: Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, the Netherlands.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Trijnie</namePart><namePart type="family">Dijkhuizen</namePart><affiliation>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jayne Y.</namePart><namePart type="family">Hehir‐Kwa</namePart><affiliation>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nigel P.</namePart><namePart type="family">Carter</namePart><affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lars</namePart><namePart type="family">Feuk</namePart><affiliation>Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Helen V.</namePart><namePart type="family">Firth</namePart><affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom</affiliation><affiliation>Department of Medical Genetics, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Robert M.</namePart><namePart type="family">Kuhn</namePart><affiliation>Center for Biomolecular Science and Engineering, University of California, Santa Cruz, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David H.</namePart><namePart type="family">Ledbetter</namePart><affiliation>Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christa Lese</namePart><namePart type="family">Martin</namePart><affiliation>Department of Human Genetics, Emory Genetics Laboratory, Emory University School of Medicine, Atlanta, Georgia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Conny M. A.</namePart><namePart type="family">van Ravenswaaij‐Arts</namePart><affiliation>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Steven W.</namePart><namePart type="family">Scherer</namePart><affiliation>McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada</affiliation><affiliation>The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Soheil</namePart><namePart type="family">Shams</namePart><affiliation>BioDiscovery, Inc., El Segundo, California</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Steven</namePart><namePart type="family">Van Vooren</namePart><affiliation>Cartagenia, Leuven, Belgium</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rolf</namePart><namePart type="family">Sijmons</namePart><affiliation>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Morris</namePart><namePart type="family">Swertz</namePart><affiliation>Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ros</namePart><namePart type="family">Hastings</namePart><affiliation>Cytogenetic European Quality Assessment and United Kingdom National External Quality Assessment Service for Clinical Cytogenetics, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2012-06</dateIssued><dateCaptured encoding="w3cdtf">2011-11-08</dateCaptured><dateValid encoding="w3cdtf">2012-01-27</dateValid><copyrightDate encoding="w3cdtf">2012</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">4</extent><extent unit="tables">3</extent><extent unit="references">34</extent></physicalDescription><abstract lang="en">The range of commercially available array platforms and analysis software packages is expanding and their utility is improving, making reliable detection of copy‐number variants (CNVs) relatively straightforward. Reliable interpretation of CNV data, however, is often difficult and requires expertise. With our knowledge of the human genome growing rapidly, applications for array testing continuously broadening, and the resolution of CNV detection increasing, this leads to great complexity in interpreting what can be daunting data. Correct CNV interpretation and optimal use of the genotype information provided by single‐nucleotide polymorphism probes on an array depends largely on knowledge present in various resources. In addition to the availability of host laboratories' own datasets and national registries, there are several public databases and Internet resources with genotype and phenotype information that can be used for array data interpretation. With so many resources now available, it is important to know which are fit‐for‐purpose in a diagnostic setting. We summarize the characteristics of the most commonly used Internet databases and resources, and propose a general data interpretation strategy that can be used for comparative hybridization, comparative intensity, and genotype‐based array data. Hum Mutat 33:930–940, 2012. © 2012 Wiley Periodicals, Inc.</abstract><note type="content">*For the Focus on CNV Detection with Diagnostic Arrays</note><note type="funding">DECIPHER is supported by the Wellcome Trust (grant number WT077008)</note><subject lang="en"><genre>keywords</genre><topic>array</topic><topic>classification</topic><topic>CNV</topic><topic>database</topic><topic>data interpretation</topic><topic>diagnostic</topic><topic>genome wide</topic></subject><relatedItem type="host"><titleInfo><title>Human Mutation</title></titleInfo><titleInfo type="abbreviated"><title>Hum. Mutat.</title></titleInfo><name type="personal"><namePart type="given">Birgit</namePart><namePart type="family">Sikkema‐Raddatz</namePart></name><name type="personal"><namePart type="given">Rolf H.</namePart><namePart type="family">Sijmons</namePart></name><genre type="journal">journal</genre><note type="content"> Additional Supporting information may be found in the online version of this articleSupporting Info Item: Supporting Information - </note><subject><genre>article-category</genre><topic>Special Article</topic></subject><identifier type="ISSN">1059-7794</identifier><identifier type="eISSN">1098-1004</identifier><identifier type="DOI">10.1002/(ISSN)1098-1004</identifier><identifier type="PublisherID">HUMU</identifier><part><date>2012</date><detail type="title"><title>Focus on CNV Detection with Diagnostic Arrays</title></detail><detail type="volume"><caption>vol.</caption><number>33</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>930</start><end>940</end><total>11</total></extent></part></relatedItem><identifier type="istex">48ED99E15E5C0D637F4412A409E02C16FF88D9C5</identifier><identifier type="DOI">10.1002/humu.22049</identifier><identifier type="ArticleID">HUMU22049</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2012 Wiley Periodicals, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><enrichments><json:item><type>multicat</type><uri>https://api.istex.fr/document/48ED99E15E5C0D637F4412A409E02C16FF88D9C5/enrichments/multicat</uri></json:item></enrichments><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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