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First draft of Toolbox use cases #4

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merged 34 commits into from
Dec 18, 2024
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KoalaQin
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@KoalaQin KoalaQin commented Oct 1, 2024

This PR includes the following examples:

  • Get variant count

    • Get variant count by AF for a release
    • Get variant count by AF for a gene interval
  • Filter to variants by VEP annotations

    • Filter to LOF variants
    • Filter to pLOF variants that we used to compute constraint metrics
  • Get 'freq' for specific genetic ancestry groups

    • Get 'freq' for multiple groups for an (gene) interval
    • Get 'freq' for a specific group and a specific variant

I also removed the "setup.py" because it caused problems while starting a cluster, we have 'setup.py' in gnomad_methods, but we don't have it in gnomad_qc, do we really need it here?

@KoalaQin KoalaQin self-assigned this Oct 1, 2024
@KoalaQin KoalaQin requested a review from jkgoodrich October 1, 2024 16:48
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ch-kr commented Dec 4, 2024

I also removed the "setup.py" because it caused problems while starting a cluster, we have 'setup.py' in gnomad_methods, but we don't have it in gnomad_qc, do we really need it here?

this file is needed to create a python package with this repo, right? so we would want to keep it

@KoalaQin
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KoalaQin commented Dec 4, 2024

I also removed the "setup.py" because it caused problems while starting a cluster, we have 'setup.py' in gnomad_methods, but we don't have it in gnomad_qc, do we really need it here?

this file is needed to create a python package with this repo, right? so we would want to keep it

I will try to solve the cluster issue when it circles back.

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- Add a description of the repo structure to the README
- Add some potential requirements
- Update the documentation and make sure it works
- Create a notebook specific to loading gnomAD release data and just showing what each dataset looks like.
- Add a description of the repo structure to the README
- Add some potential requirements
- Update the documentation and make sure it works
- Create a notebook specific to loading gnomAD release data and just showing what each dataset looks like.
- Addition of variant.py to store some functions that can also be used by frequency based filtering
- Changes to frequency filtering to use new default settings if not passed a ht
KoalaQin and others added 5 commits December 13, 2024 13:07
@jkgoodrich jkgoodrich changed the base branch from main to development December 18, 2024 18:47
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lgtm for the development branch

@jkgoodrich jkgoodrich merged commit ef83b20 into development Dec 18, 2024
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@jkgoodrich jkgoodrich deleted the qh/draft_toolbox branch December 18, 2024 18:55
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3 participants