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Add in OurDNA data in main RD workflow#12

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MattWellie wants to merge 6 commits intomainfrom
add_in_OurDNA_data
Open

Add in OurDNA data in main RD workflow#12
MattWellie wants to merge 6 commits intomainfrom
add_in_OurDNA_data

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@MattWellie
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@MattWellie MattWellie commented Aug 12, 2025

Purpose

  • Integrate OurDNA into Main RD workflow
  • Even if we don't want that included for every run, it can be commented out. The rest of this PR is a cleanup/restructure of the existing seqr_loader/annotate_cohort components, which makes the code easier to read, and optimises use of checkpoints to speed things up

Proposed Changes

  • Tidies up the main method by pulling the external HT annotations out into separate methods

    • one for VEP, ClinVar, Seqr_loader
    • one for OurDNA (optional)
    • one for gnomAD 4 (commented out)
  • Removes a checkpoint which wasn't doing anything (immediately after reading)

  • Moves the global annotations up and condenses into a single mt.annotate_globals event

  • Condenses the variant_qc annotation into a single block instead of splitting across 2 calls

The diff here might look a bit dodgy, but I think it will result in an easier to read process

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