BioinformaticsBriefings in BioinformaticsPeer-reviewed
CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications
Melivoia Rapti, Yassine Zouaghi, Jenny Meylan…·Federico Andrea Santoni
CoverageMaster detects and visualizes CNVs in exome and genome data using wavelet compression and HMM, potentially replacing probe-based methods.