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

Küçük Resim Yok

Tarih

2024

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

BMC

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

Next-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.

Açıklama

Anahtar Kelimeler

Copy number variations, Next-generation sequencing, CNV analysis, Mendelian disorders

Kaynak

BMC Medical Genomics

WoS Q Değeri

Q3

Scopus Q Değeri

Q3

Cilt

17

Sayı

1

Künye

Atik, 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.