Check out our paper on mapping long reads to segmental duplications: doi.org/10.1093/nar/gk…

Copy number discussions continue with Timofey Prodanov: "Robust and accurate estimation of paralog-specific copy number for duplicated genes using whole-genome sequencing" #hitseq2021 #ismbeccb2021

So excited to have this preprint out! Severus is a new tool for somatic SV calling in cancer using long reads. It supports tumor/normal analysis, takes advantage of long-read phasing and can cluster and annotate complex SV events. medrxiv.org/content/10.110…