This site is now read-only. You can find our new documentation site and support forum for posting questions here.
Be sure to read our welcome blog!
UnifiedGenotyper false call with no support in BAM
I used GATK 3.2-2 to do indel realignment and multisample calling with UnifiedGenotyper (I cannot use HaplotypeCaller because it is incompatible with the type of data I am analyzing).
Among the ~96 samples sequenced, I have one sample with two nearby variant calls, an indel and a missense, that we checked by Sanger. The missense is real but we found no trace of the indel in the Sanger traces. When I look at indel call in the multisample vcf, it has good allele depth and GQ, but suspiciously has the same AD as the missense call. Additionally, when I look at the bam in IGV, I see no evidence for the indel whatsoever and the variant is not called in any other samples in this project.
chr13:101755523 CA>C GT:AD:DP:GQ:PL 0/1:55,56:111:99:1388,0,1538
chr13:101755530 A>G GT:AD:DP:GQ:PL 0/1:55,56:111:99:2170,0,2125
I went back and recalled just this one sample (single sample calling)… which resulted in the correct variants, i.e. the indel was not called at all, but the SNP, which does validate, is called.
I understand that this is not an easy region to call because of the 7xA repeat, but it’s not obvious to me why this happens only in multisample mode and I'd like to have a better understanding of what is going on.