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gnomad svs #1031

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bpblanken
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@bpblanken bpblanken commented Feb 6, 2025

Updates the gnomad sv field names.

@bpblanken bpblanken marked this pull request as ready for review February 6, 2025 17:34
@bpblanken bpblanken requested a review from a team as a code owner February 6, 2025 17:34
@bpblanken bpblanken changed the base branch from main to benb/bugfix_allow_fields_with_periods_in_name February 6, 2025 17:34
Base automatically changed from benb/bugfix_allow_fields_with_periods_in_name to main February 6, 2025 20:57
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hanars commented Feb 6, 2025

I don't think it is a good idea for the previously loaded SVs in seqr to be annotated with one version of gnomad and the new samples to be annotated with a different version. Are we planning to go back and update the annotations for everything we currently have?

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I don't think we have the capability to go back and update any of the old variants. I know we, at some point, discussed how the gnomad annotations work and whether or not we should own them as part of our pipeline, and I believe the answer was to leave them as part of the WDL. That leaves us in this situation though.

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hanars commented Feb 6, 2025

This is a blocker for us accepting the data from the Talkowski team, as having a random mix of gnomad versions within a seqr project is an unacceptable end user experience. They either need to deliver us a callset that is annotated with the SAME annotations as past data, specifically using the same version of gnomad, or they need to deliver us an updated version of the previous callset with updated gnomad annotations

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👍 I will follow up.

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Closing in favor of moving gnomad to reference dataset + SVConcordance.

@bpblanken bpblanken closed this Feb 14, 2025
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2 participants