Detecting copy number variation in next generation sequencing data from diagnostic gene panels

• Main Authors: Ashish Kumar Singh (Author), Maren Fridtjofsen Olsen (Author), Liss Anne Solberg Lavik (Author), Trine Vold (Author), Finn Drabløs (Author), Wenche Sjursen (Author)
• Format: Book
• Published: BMC, 2021-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. However, CNV detection based on NGS data is in general not often used i...