The SAMtools mpileup utility provides a summary of the coverage of mapped reads on a reference sequence at a single base pair resolution. In addition, the output from mpileup can be piped to BCFtools to call genomic variants. I'm currently working with some Sanger sequenced PCR products, which I would like to call variants on. There are various tools for variant detection on Sanger sequences but I wanted to take this opportunity to check out SAMtools mpileup and BCFtools. In this post, I illustrate the BWA-MEM, SAMtools mpileup, and BCFtools pipeline with a bunch of randomly generated sequences.
I want to compare the genotype concordance between two VCF files and I came across SnpSift, which seems to calculate the statistics that I want. However, the format of the results from my run differ from the format in the documentation. In this post, I will try to come up with the exact scenarios that fall into each of the summary statistics (to satisfy my curiosity).