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QC under one umbrella (well mostly) under QuaC

Manavalan Gajapathy requested to merge qc_under_one_umbrella into master

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

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