QC under one umbrella (well mostly) under QuaC
QuaC is heavily reworked to be a companion pipeline to small variant caller pipeline and will now perform most of the QC analyses for WGS/WES data.
- While the small caller pipeline will still run few QC tools (for pragmatic reasons), QuaC will now take over the heavylifting of QC, including the QC-checkup.
- QuaC can perform both sample-level and project-level QC. This is the major reason why it was decided to separate QC from small-variant caller pipeline, as it could only perform single-sample QC.
- More QC tools were added
- For QC checkup, QuaC now heavily expands to vcf metrics and adds significant amount of QC thresholds for bam metrics.
- QuaC's input are output from the small variant caller pipeline, and former's output will fit seemlessly with the latter's output.
- QuaC accepts pedigree file as input. A dummy pedigree file creator script is provided, which will be handy until phenotips is made available to us.
- System-level testing is added
Following may need to be included as part of the MR review:
-
Documentation review -
Install QuaC and run it with test dataset -
Review thresholds and metrics defined in QC-checkup config file -
Is testing performed sufficient? -
Is the repo reasonably structured? -
Review MR template
Note to self: Ensure following are discussed or taken care of before merging:
-
Include workflow config file as part of repo or not (#20 (closed)) -
Remove panoptes before merging the branch to master (#23 (closed)) -
Need alternative name for "CGDS QC checkup"? (#24 (closed)) -
Set --rerun_failed
to 1 before merging [#22 (closed)] -
Mean and median coverage stats vary heavily between Qualimap and Picard. Which one to use? (#16 (closed)) -
Update changelog.md
Edited by Brandon M Wilk