Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

Abstract Background As exome sequencing (ES) integrates into clinical practice, we should make every effort to utilize all information generated. Copy-number variation can lead to Mendelian disorders, but small copy-number variants (CNVs) often get overlooked or obscured by under-powered data collec...

Full description

Bibliographic Details
Main Authors: Dayne L. Filer, Fengshen Kuo, Alicia T. Brandt, Christian R. Tilley, Piotr A. Mieczkowski, Jonathan S. Berg, Kimberly Robasky, Yun Li, Chris Bizon, Jeffery L. Tilson, Bradford C. Powell, Darius M. Bost, Clark D. Jeffries, Kirk C. Wilhelmsen
Format: Article
Language:English
Published: BMC 2021-07-01
Series:BMC Bioinformatics
Subjects:
Exome sequencing
Copy number variation
Capture
Online Access:https://doi.org/10.1186/s12859-021-04246-w

Internet

https://doi.org/10.1186/s12859-021-04246-w

Similar Items