ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data
André E. Minoche, Ben Lundie, Greg B. Peters, Thomas Ohnesorg, Mark Pinese, David Morgan Thomas, Andreas Zankl, Tony Roscioli, Nicole Schönrock, Sarah Kummerfeld, Leslie Burnett, Marcel E. Dinger, Mark J. Cowley
ClinSV detects structural and copy number variants from whole genome sequencing data with high sensitivity and low false positive rates, outperforming clinical microarrays in identifying reportable variants.
Genome Medicine · Feb 25, 2021Peer-reviewedGenetic & Genomic Medicine