search

PharmGKB / PharmCAT

The Pharmacogenomic Clinical Annotation Tool
Mozilla Public License 2.0
120 stars 39 forks source link

Update UGT1A1 handling #37

Closed whaleyr closed 3 years ago

whaleyr commented 3 years ago

The allele definitions for UGT1A1 have been updated substantially so the custom allele calling rules need to be updated accordingly.

More specifics to come...

katrinsangkuhl commented 3 years ago

I thought we addressed this. We took out the flag in the google sheet that prior resulted in not using the reference for UGT1A1 calling rather just determine the present alleles and then using the logic to determine the function and phenotype. UGT1A1 for v1 has no exception.

whaleyr commented 3 years ago

Perfect, thanks for the reminder and, yes, we did address this. I will consider this done then.