gatk
gatk copied to clipboard
GenotypeGVCFs can't handle somatic GVCFs from DRAGEN 3.8.4
Bug Report
Affected tool(s) or class(es)
GenotypeGVCFs
Affected version(s)
- [x] Latest public release version [version?]
- [x] Latest master branch as of [date of test?]
Description
GenotypeGVCFs won't joint call DRAGEN mitochondrial data because of the DRAGEN somatic output format.
We should be able to use the DRAGEN SQ in place of Mutect2's TLOD (see line 279 in GenotypeGVCFsEngine) Note that DRAGEN SQ is a Phred-scaled double
Steps to reproduce
DRAGEN somatic GVCF entries from version 3.8.4 look like: chrM 1 . G <NON_REF> . weak_evidence END=1 GT:AD:DP:SQ:MIN_DP 0/0:112,1579:1691:0:1691
Run GenotypeGVCFs with -V to a file like that (reference GenotypeGVCFsIntegrationTest::testGenotypingForSomaticGVCFs() for more details)
Must include --input-is-somatic
as of now
Expected behavior
The task should run to completion, calculating a site quality store using the DRAGEN SQ value
Actual behavior
Error from AlleleFrequencyCalculator about not having PLs or GQ.
Replaces #7797