For inference and visualization of germline copy number variants (CNVs) from targeted NGS data.

Description: VisCap is a copy number detection and visualization tool written in R ( for analysis of next-generation sequencing data derived from hybrid-capture experiments. It requires installation of the R libraries "gplots", "zoo", and “cluster”. We reported validation of this algorithm for detection of germline variation in Genetics in Medicine:
Authors: Trevor J. Pugh, Sami S. Amr, Mark J. Bowser, Sivakumar Gowrisankar, Elizabeth Hynes, Lisa M. Mahanta, Heidi L. Rehm, Birgit Funke, Matthew S. Lebo
Lab: Pugh
Version: 0.8
Keywords: VisCap, copy number variation, visualization, germline variation, R
Licensing: -


Pugh, T. J., Amr, S. S., Bowser, M. J., Gowrisankar, S., Hynes, E., Mahanta, L. M., ... & Lebo, M. S. (2016). VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data. Genetics in Medicine, 18(7), 712-719.