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cancervariants / variation-normalization

Services and guidelines for normalizing variants
https://normalize.cancervariants.org/variation/
MIT License
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feat!: add more support for queries in gnomad_vcf_to_protein #529

Closed korikuzma closed 7 months ago

korikuzma commented 8 months ago

close #362

@wesleygoar still in draft, but your feedback would be nice

wesleygoar commented 8 months ago

Screenshot 2024-01-11 at 12 48 10 PM Example from vcf in varhouse

wesleygoar commented 8 months ago

image (12) annotated by varhouse as...

wesleygoar commented 8 months ago

@korikuzma we should consider asking @ahwagner to review as well to confirm.

korikuzma commented 7 months ago

Since this endpoint needs gene-normalizer data, I'm wondering if we should use ProteinSequenceConsequence. Right now, I have the catvar pydantic models in metakb (it made development easier). Maybe we should move them here or in a different place?

wesleygoar commented 7 months ago

Since this endpoint needs gene-normalizer data, I'm wondering if we should use ProteinSequenceConsequence. Right now, I have the catvar pydantic models in metakb (it made development easier). Maybe we should move them here or in a different place?

Hmm. I will default to where @ahwagner thinks is best for them since he runs the whole show.

korikuzma commented 7 months ago

@ahwagner Do you have time to review this?

wesleygoar commented 7 months ago

@korikuzma I am pretty sure I have reviewed this at least once if not more. Is there any reason for me to review again?

korikuzma commented 7 months ago

@korikuzma I am pretty sure I have reviewed this at least once if not more. Is there any reason for me to review again?

@wesleygoar no, when changes get made the reviews are dismissed. I only re-request reviews when I need things to be reviewed again.