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

• Main Authors: Tahir Atik (Author), Enise Avci Durmusalioglu (Author), Esra Isik (Author), Melis Kose (Author), Seda Kanmaz (Author), Ayca Aykut (Author), Asude Durmaz (Author), Ferda Ozkinay (Author), Ozgur Cogulu (Author)
• Format: Book
• Published: BMC, 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 p...