cancervariants / variation-normalization

Services and guidelines for normalizing variants
https://normalize.cancervariants.org/variation/
MIT License
10 stars 2 forks source link

feat: add more support for gnomad VCF expressions in normalize #479

Closed korikuzma closed 1 year ago

korikuzma commented 1 year ago

Close #478

Eventually, we'll want to look at #231 but then gnomad vcf wouldn't follow the same tokenize/classify/validate/translate steps. I'm not sure if that would be an issue or not. Using the translate from would help speed up performance I think.

I need an eye break, so opening now. I made need to look at adding additional tests.

korikuzma commented 1 year ago

@wesleygoar Once you confirm the logic looks okay, I will run the GENIE genomic data with the normalizer