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📚 update docs for genotype filtering #57

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@dmiller15 dmiller15 commented Dec 19, 2024

Description

Updating the docs and pub app formatting for the genotyping workflow.

Part of https://d3b.atlassian.net/browse/BIXU-3800

Type of change

  • Documentation update

How Has This Been Tested?

Please describe the tests that you ran to verify your changes. Provide instructions so we can reproduce. Please also list any relevant details for your test configuration

  • Nothing to test

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  • Environment:
  • Test files:

Checklist:

  • My code follows the style guidelines of this project
  • I have performed a self-review of my own code
  • I have commented my code, particularly in hard-to-understand areas
  • I have made corresponding changes to the documentation
  • My changes generate no new warnings
  • I have added tests that prove my fix is effective or that my feature works
  • New and existing unit tests pass locally with my changes
  • Any dependent changes have been merged and published in downstream modules
  • I have checked my code and corrected any misspellings
  • I have committed any related changes to the PR

@dmiller15 dmiller15 added documentation Regarding developer or user documentation bix-dev This issue or pull request is bix-dev work labels Dec 19, 2024
@dmiller15 dmiller15 self-assigned this Dec 19, 2024
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@migbro migbro left a comment

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Looks pretty good overall, a couple small questions and comments

docs/GATK_GERMLINE_README.md Outdated Show resolved Hide resolved
small-scale experiments, such as targeted gene panels or exome studies with
fewer than 30 exomes." Therefore, VQSR is only activated in this workflow when
the input gVCFs for this workflow come from whole genome sequencing experiments
or when the user provides 30 or more exome gVCFs.
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If you provide 30+ exomes, target, do you get a joint called VCF, or individual calls with VQSR?

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They all get jointly processed. 30+ exomes will go to VQSR, 30+ targeted will still be hard filtered.

Targeted seq just is too high depth and too low data to work properly in VQSR.

Hard Filtering is really only constrained by having sufficient depth. In the
case of exome and targeted sequencing, the depths are more than sufficient. Our
current approach for hard filtering mirrors the default approach outlined in
the GATK documentation. However as they point out, "You absolutely SHOULD
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Is there link to the various filtering possibilities/syntax?

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There are but they are GATK doc links, which means they'll just end up dead sooner or later.

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I'm debating making archive links to everything, but in the ticket.

@dmiller15 dmiller15 force-pushed the dm-update-genotyping-docs branch from bea6e65 to 60db58d Compare December 20, 2024 14:54
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3 participants