Genetic & Genomic MedicineGenome MedicinePeer-reviewed
ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data
André E. Minoche, Ben Lundie, Greg B. Peters…·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.
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