VisCap

VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number variants (CNVs) from targeted next-generation sequencing data.

There are two versions of this software: the original version published in Genetics in Medicine for calling germline variation based on automated thresholding of log2ratios with sensitivity down to single exon CNV calling (VisCap, https://github.com/pughlab/VisCap) and a version for calling somatic variants that uses circular binary segmentation to enable gene-level CNV calling and uses a series of static thresholds corresponding to different levels of expected tumour content (VisCapCancer, https://github.com/pughlab/VisCapCancer).