New PharmCAT release
Highlights of the latest releases (v3.1.0- v3.1.1) are:
- CPIC function and phenotype assignments are used to provide genotype-level guidance from all sources including DPWG and FDA. For a detailed blog see, Genotype-Phenotype Mapping for Guideline and Drug Label Curation.
- Allele definitions are up to date to PharmVar’s Version 6.2.17.2, which adds new alleles for NAT2, CYP2C19, CYP2C9, SLCO1B1.
- Recommendation updates (see full list of gene and drugs included in PharmCAT)
- Addition of new DPWG recommendation for CYP2C19-mavacamten and UGT1A1-atazanavir. Updates to several existing DPWG recommendations, e.g. SLCO1B1-statin pairs, TPMT/NUDT15 guidelines
- Addition of the CPIC NAT2-hydralazine guideline, which also enables the translation of NAT2 genotypes into phenotypes
- Addition of NAT2-FDA content
- The preprocessor now supports BCF files, although PharmCAT still only supports VCF.
- Ability to call a single gene with the -g flag.
- PharmCAT is now a part of ClinPGx and has a new logo
The latest version is available on PharmCAT.org, GitHub, and DockerHub.