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.
