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feat!: add more support for queries in gnomad_vcf_to_protein #529

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merged 15 commits into from
Feb 7, 2024

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@korikuzma korikuzma commented Jan 11, 2024

close #362

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

@korikuzma korikuzma added enhancement New feature or request priority:medium Medium priority labels Jan 11, 2024
@korikuzma korikuzma self-assigned this Jan 11, 2024
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Screenshot 2024-01-11 at 12 48 10 PM
Example from vcf in varhouse

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image (12)
annotated by varhouse as...

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This all seems correct to me.

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

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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?

"""Define response for gnomad vcf to protein service"""

gene_context: Optional[core_models.Gene] = None
vrs_ref_allele_seq: Optional[StrictStr] = None
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I could have just added this to variation extensions field, but thought it'd be easier for varcat if we had a field to retrieve

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I am always pro making varcat better (easier to develop). @ahwagner any objections?

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Yes, this is good info to include. I would like there to be a gene_context field on the VRS 2.x SequenceReference class but it doesn't exist yet, so we can leave that as a downstream issue.

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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.

wesleygoar
wesleygoar previously approved these changes Feb 1, 2024
Base automatically changed from issue-408 to staging February 5, 2024 12:41
@korikuzma korikuzma dismissed wesleygoar’s stale review February 5, 2024 12:41

The base branch was changed.

korikuzma added a commit that referenced this pull request Feb 5, 2024
* Updates cool-seq-tool + ga4gh.vrs versions. This mainly had to do with fixing inter-residue positions. cool-seq-tool previous versions returned 0-based coordinates. 
* Temporarily removes gnomad_vcf_to_protein, which will be added back in #529
@korikuzma korikuzma changed the base branch from staging to main February 5, 2024 13:11
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@ahwagner Do you have time to review this?

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ahwagner previously approved these changes Feb 7, 2024
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Overall outstanding work. 👍
I noticed a few minor docstring clarifications and thread comments.

I spot tested a few of the provided tests, they check out.

"""Define response for gnomad vcf to protein service"""

gene_context: Optional[core_models.Gene] = None
vrs_ref_allele_seq: Optional[StrictStr] = None
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Yes, this is good info to include. I would like there to be a gene_context field on the VRS 2.x SequenceReference class but it doesn't exist yet, so we can leave that as a downstream issue.

variation/gnomad_vcf_to_protein_variation.py Outdated Show resolved Hide resolved
tests/test_gnomad_vcf_to_protein.py Outdated Show resolved Hide resolved
tests/test_gnomad_vcf_to_protein.py Outdated Show resolved Hide resolved
tests/test_gnomad_vcf_to_protein.py Outdated Show resolved Hide resolved
tests/test_gnomad_vcf_to_protein.py Outdated Show resolved Hide resolved
tests/test_gnomad_vcf_to_protein.py Outdated Show resolved Hide resolved
tests/test_gnomad_vcf_to_protein.py Show resolved Hide resolved
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@korikuzma I am pretty sure I have reviewed this at least once if not more. Is there any reason for me to review again?

Co-authored-by: Alex H. Wagner, PhD <Alex.Wagner@nationwidechildrens.org>
Co-authored-by: Alex H. Wagner, PhD <Alex.Wagner@nationwidechildrens.org>
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@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.

korikuzma and others added 4 commits February 7, 2024 15:44
Co-authored-by: Alex H. Wagner, PhD <Alex.Wagner@nationwidechildrens.org>
Co-authored-by: Alex H. Wagner, PhD <Alex.Wagner@nationwidechildrens.org>
Co-authored-by: Alex H. Wagner, PhD <Alex.Wagner@nationwidechildrens.org>
Co-authored-by: Alex H. Wagner, PhD <Alex.Wagner@nationwidechildrens.org>
@korikuzma korikuzma marked this pull request as ready for review February 7, 2024 20:53
@korikuzma korikuzma merged commit cdde139 into main Feb 7, 2024
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@korikuzma korikuzma deleted the issue-362-2-alpha branch February 7, 2024 20:56
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Add more support for deletions/insertions gnomad_vcf_to_protein
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