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Article: Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy.

TitleCoverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy.
Authors
Issue Date2018
PublisherNature Publishing Group: Open Access Journals - Option C. The Journal's web site is located at http://www.nature.com/srep/index.html
Citation
Scientific Reports, 2018, v. 8 n. 1, p. article no. 10846 How to Cite?
AbstractTargeted next generation sequencing of gene panels has become a popular tool for the genetic diagnosis of hypertrophic (HCM) and dilated cardiomyopathy (DCM). However, it is uncertain whether the use of Whole Exome Sequencing (WES) represents a more effective approach for diagnosis of cases with HCM and DCM. In this study, we performed indirect comparisons of the coverage and diagnostic yield of WES on genes and variants related to HCM and DCM versus 4 different commercial gene panels using 40 HCM and DCM patients, assuming perfect coverage in those panels. We identified 6 pathogenic or likely pathogenic among 14 HCM patients (diagnostic yield 43%). 3 pathogenic or likely pathogenic were found among the 26 DCM patients (diagnostic yield 12%). The coverage was similar to that of four existing commercial gene panels due to the clustering of mutation within MYH7, MYBPC3, TPM1, TNT2, and TTN. Moreover, the coverage of WES appeared inadequate for TNNI3 and PLN. We conclude that most of the pathogenic variants for HCM and DCM can be found within a small number of genes which were covered by all the commercial gene panels, and the application of WES did not increase diagnostic yield.
Persistent Identifierhttp://hdl.handle.net/10722/259382
ISSN
2017 Impact Factor: 4.122
2015 SCImago Journal Rankings: 2.073
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorMak, SHT-
dc.contributor.authorLee, YK-
dc.contributor.authorTang, SM-
dc.contributor.authorHai, SHJJ-
dc.contributor.authorRan, X-
dc.contributor.authorSham, PC-
dc.contributor.authorTse, HF-
dc.date.accessioned2018-09-03T04:06:30Z-
dc.date.available2018-09-03T04:06:30Z-
dc.date.issued2018-
dc.identifier.citationScientific Reports, 2018, v. 8 n. 1, p. article no. 10846-
dc.identifier.issn2045-2322-
dc.identifier.urihttp://hdl.handle.net/10722/259382-
dc.description.abstractTargeted next generation sequencing of gene panels has become a popular tool for the genetic diagnosis of hypertrophic (HCM) and dilated cardiomyopathy (DCM). However, it is uncertain whether the use of Whole Exome Sequencing (WES) represents a more effective approach for diagnosis of cases with HCM and DCM. In this study, we performed indirect comparisons of the coverage and diagnostic yield of WES on genes and variants related to HCM and DCM versus 4 different commercial gene panels using 40 HCM and DCM patients, assuming perfect coverage in those panels. We identified 6 pathogenic or likely pathogenic among 14 HCM patients (diagnostic yield 43%). 3 pathogenic or likely pathogenic were found among the 26 DCM patients (diagnostic yield 12%). The coverage was similar to that of four existing commercial gene panels due to the clustering of mutation within MYH7, MYBPC3, TPM1, TNT2, and TTN. Moreover, the coverage of WES appeared inadequate for TNNI3 and PLN. We conclude that most of the pathogenic variants for HCM and DCM can be found within a small number of genes which were covered by all the commercial gene panels, and the application of WES did not increase diagnostic yield.-
dc.languageeng-
dc.publisherNature Publishing Group: Open Access Journals - Option C. The Journal's web site is located at http://www.nature.com/srep/index.html-
dc.relation.ispartofScientific Reports-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.titleCoverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy.-
dc.typeArticle-
dc.identifier.emailMak, SHT: tshmak@hku.hk-
dc.identifier.emailLee, YK: carol801@hku.hk-
dc.identifier.emailTang, SM: claratang@hku.hk-
dc.identifier.emailHai, SHJJ: haishjj@hku.hk-
dc.identifier.emailSham, PC: pcsham@hku.hk-
dc.identifier.emailTse, HF: hftse@hkucc.hku.hk-
dc.identifier.authorityTang, SM=rp02105-
dc.identifier.authorityHai, SHJJ=rp02047-
dc.identifier.authoritySham, PC=rp00459-
dc.identifier.authorityTse, HF=rp00428-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1038/s41598-018-29263-3-
dc.identifier.scopuseid_2-s2.0-85050360344-
dc.identifier.hkuros288695-
dc.identifier.volume8-
dc.identifier.issue1-
dc.identifier.spagearticle no. 10846-
dc.identifier.epagearticle no. 10846-
dc.identifier.isiWOS:000439026000007-
dc.publisher.placeUnited Kingdom-

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