Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application

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dc.authorid0000-0002-1142-3872
dc.authorid0000-0002-0582-8881
dc.authorid0000-0002-8738-1242
dc.authorid0000-0002-9037-5599
dc.authorid0000-0002-4109-9401
dc.authorid0000-0001-7542-7787
dc.contributor.authorAtik, Tahir
dc.contributor.authorAvci Durmusalioglu, Enise
dc.contributor.authorIsik, Esra
dc.contributor.authorKose, Melis
dc.contributor.authorKanmaz, Seda
dc.contributor.authorAykut, Ayca
dc.contributor.authorCogulu, Ozgur
dc.contributor.authorDurmaz, Asude
dc.contributor.authorOzkinay, Ferda
dc.date.accessioned2025-05-06T09:38:19Z
dc.date.available2025-05-06T09:38:19Z
dc.date.issued2024
dc.departmentEge Üniversitesi, Tıp Fakültesi, Dahili Bilimler Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractNext-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in the emergence of Mendelian disorders. In this study, we evaluated the diagnostic yield of exome sequencing-based CNV analysis in 449 patients with suspected Mendelian disorders. We aimed to assess the diagnostic yield of this recently utilized method and expand the clinical spectrum of intragenic CNVs. The cohort underwent whole exome sequencing (WES) and clinical exome sequencing (CES). Using GATK-gCNV, we identified 12 pathogenic CNVs that correlated with their clinical findings and resulting in a diagnostic yield of 2.67%. Importantly, the study emphasizes the role of CNVs in the etiology of Mendelian disorders and highlights the value of exome sequencing-based CNV analysis in routine diagnostic processes.
dc.identifier.citationAtik, T., Durmusalioglu, E. A., Isik, E., Kose, M., Kanmaz, S., Aykut, A., Durmaz, A., Ozkinay, F., & Cogulu, O. (2024). Diagnostic yield of exome sequencing-based copy number variation analysis in mendelian disorders: A clinical application. BMC Medical Genomics, 17(1), 239-9.
dc.identifier.doi10.1186/s12920-024-02015-1
dc.identifier.endpage9
dc.identifier.issn17558794
dc.identifier.issue1
dc.identifier.pmid39350166
dc.identifier.scopus2-s2.0-85205447191
dc.identifier.scopusqualityQ3
dc.identifier.startpage1
dc.identifier.urihttps://doi.org/10.1186/s12920-024-02015-1
dc.identifier.urihttps://hdl.handle.net/11454/117201
dc.identifier.volume17
dc.identifier.wosWOS:001325776000003
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAtik, Tahir
dc.institutionauthorAvci Durmusalioglu, Enise
dc.institutionauthorIsik, Esra
dc.institutionauthorKanmaz, Seda
dc.institutionauthorAykut, Ayca
dc.institutionauthorCogulu, Ozgur
dc.institutionauthorDurmaz, Asude
dc.institutionauthorOzkinay, Ferda
dc.institutionauthorid0000-0002-1142-3872
dc.institutionauthorid0000-0002-0582-8881
dc.institutionauthorid0000-0002-8738-1242
dc.institutionauthorid0000-0002-9037-5599
dc.institutionauthorid0000-0002-4109-9401
dc.institutionauthorid0000-0001-7542-7787
dc.language.isoen
dc.publisherBMC
dc.relation.ispartofBMC Medical Genomics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectCopy number variations
dc.subjectNext-generation sequencing
dc.subjectCNV analysis
dc.subjectMendelian disorders
dc.titleDiagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application
dc.typeArticle

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