BAMdelbee is a novel tool for discovering homozygous deletions in Whole-exome-sequencing (WES) and whole-genome-sequencing (WGS) data and can run on a common laptop.
BAMdelbee can spot homozygous deletions absent from VCF files for being too vast, yet undetectable by chromosomal microarrays (CMA) for being too small.
We use BAMdelbee in every recessive disease study that includes WES and WGS and recommend doing so to address the blind spot that is not investigated using CMA and VCF files.
BAMdelbee‘s poster at the European Society of Human Genetics 2022 conference:
