GenomicsGenesPeer-reviewed
VarGenius-HZD allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage
Francesco Musacchia, Marianthi Karali, Annalaura Torella…·Sandro Banfi
VarGenius-HZD detects rare homozygous and hemizygous deletions in targeted sequencing with higher sensitivity than existing tools.
6 citations