Is there a method/pipeline or tools to get a hint about heterozygous large deletions (> 1kb) in exome sequencing and targeted panel seq data ? Is there a way apart from manual checking in IGV ?
I have been collecting some papers about CNV analysis (link). There is a topic about Whole Exome Sequencing (WES). Nowadays, I'm using Exomedepth+cnvScan. I'm also trying to add more callers to my pipeline.