BioinformaticsNAR Genomics and BioinformaticsPeer-reviewed
Detection of homozygous and hemizygous partial exon deletions by whole-exome sequencing
Benedetta Bigio, Yoann Seeleuthner, Gaspard Kerner…·Aurélie Cobat
HMZDelFinder_opt improves detection of homozygous and hemizygous partial exon deletions in WES data by optimizing reference controls and using a sliding window approach.
15 citations