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.orgGitHub, and DockerHub.

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