I would like to know the working of NIPTmer. what does "A.2. Creating blacklist of known polymorphisms" do? which are the vcf files to be supplied?
I've a set of BAM files. I'm able to do the first step:
A. Creating reference kmer lists A.1. Creating chromosome (or sub-chromosomal region) specific lists
Please help me.
Thanks with regards.
Greeshma Thulasi