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@ch-kr ch-kr commented Jul 14, 2025

Also adds release resources and constants

Code is currently written to use v4 for testing; testing done here https://workbench.researchallofus.org/workspaces/aou-rw-4b0bd63f/gnomadproduction/analysis/preview/z_PR_692_test_run.ipynb

@ch-kr ch-kr marked this pull request as ready for review July 29, 2025 13:45
@ch-kr ch-kr requested a review from a team as a code owner July 29, 2025 13:45
@ch-kr ch-kr requested a review from mike-w-wilson July 29, 2025 15:42
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This is looking good to me at first pass -- I have some initial feedback. I know we still need to update to AoU for real testing and also add in downsamplings/histogram merge. Most of my comments are pretty minor/style/org stuff.

)
hl.default_reference("GRCh38")

# TODO: Remove this?
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This was a suggestion from Dan King during v4 prod but it may have become the default -- we can ask Chris in our next meeting, or dive into the hail codebase

# TODO: Add support for subtracting gnomAD v4 samples.
aou_ht = _rename_fields(aou_ht, "aou")
gnomad_ht = _rename_fields(gnomad_ht, "gnomad")
ht = aou_ht.join(gnomad_ht, "outer")
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Same question as above where coverage used a "left" join. I cant think of a reason why they should be different so just looking for why we specify and why specify differently per stat

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hm. 🤔 not sure...I'll move this to "left" but with the above, happy to use "inner"

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ch-kr commented Oct 24, 2025

this is finally ready for re-review, though I've added some discussion questions into the code as TODOs (e.g., should we only merge the overall adj AN when merging the gnomAD + AoU ANs?)

Jobs from gnomAD code tests:

  • Generage gnomAD group membership HT: 2917835324fc4db8b794ebfb0dacd5db
  • Generate gnomAD AN/coverage: 48c6bfa2a07b4816b153900d1bd3aa45
  • Merge gnomAD coverage: e42c4e820694430990917a1e3fbcd686
  • Merge gnomAD AN: 837d62b66c8c424eaff34f9a1f6be6d8

AoU testing: https://workbench.researchallofus.org/workspaces/aou-rw-4b0bd63f/gnomadproduction/analysis/z_PR_692_test_run.ipynb

:param environment: Environment to use. Default is "rwb".
:return: Coverage TSV path.
"""
return f"{_release_root(release_version, test=test, extension='tsv', environment=environment)}/gnomad.genomes.v{release_version}.coverage.all.tsv.bgz"
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will this ever not be "all" (looks like "all" was removed in release_coverage_path cause no longer needed)?

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no this should always be all. I think I forgot to remove this here after porting the paths from the v4 resources

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ch-kr commented Nov 7, 2025

back to you @klaricch !

New tests:

  • gnomAD group membership: f9c387494a704b6e960325a663a5ef5f
  • gnomAD cov/AN HT: e15a4ce86b0349fab41ef4b329c09ffe
  • merge gnomAD cov: 8966df2f72b2477fa8e99183b8e862dd
  • merge gnomAD AN: bb30b7ca8a28434191eda108682b6e0d

New AoU tests also in https://workbench.researchallofus.org/workspaces/aou-rw-4b0bd63f/gnomadproduction/analysis/preview/z_PR_692_test_run.ipynb

@ch-kr ch-kr requested a review from klaricch November 7, 2025 17:21
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