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PharmCAT Version 2.0 Released

Version 2.0 of the Pharmacogenomics Clinical Annotation Tool (PharmCAT) has been released October 20, 2022. PharmCAT is a software tool that takes the genetic data (VCF file) of an individual as input, interprets the pharmacogene alleles, diplotypes, and phenotypes, and generates a report with genotype-based drug prescribing recommendations. In

There is no ontology term for Phenoconversion in BioPortal

There are two papers ahead of print in Pharmacogenomics both discussing how important phenoconversion is to consider in the implementation of PGx in clinical practice. Phenoconversion in the PGx context is a drug-drug interaction that impacts a drug metabolizing phenotype such that it mimics the effects of a metabolizer genotype.

New tutorial and walkthrough videos now available

We are pleased to announce the release of our PharmGKB walkthroughs and tutorial videos on YouTube. Users can now view detailed video walkthroughs of each of the main annotation types on PharmGKB as well as a longer video combining resources from across the site. We have also produced a series

PharmGKB and Reactome collaborate on two pathways

PharmGKB has collaborated with Reactome for two new pharmacokinetics pathways, Ribavirin, and Prednisone and Prednisolone available via both formats: Ribavirin Pathway, Pharmacokinetics on Reactome on PharmGKB Prednisone and Prednisolone Pathway, Pharmacokinetics on Reactomeon PharmGKB

Study of vitamin K pathways presents potential new warfarin candidates

Almost two decades after the cloning of VKORC1 and association with warfarin dose, a new pathway of vitamin K cycling has been published. Mishima et al [PMID:35922516] report on the Ferroptosis suppressor protein 1 (FSP1), coded for by the AIFM2 gene, and its mechanism of maintaining vitamin K in

PharmVar GeneFocus paper for SLCO1B1 is published

The PharmVar GeneFocus: SLCO1B1 paper has just been published by Clinical Pharmacology & Therapeutics. This review provides a general overview of SLCO1B1 as well as a deeper dive into its nomenclature. This GeneFocus covers genetic variability, functional impact, clinical relevance, gene nomenclature before and after PharmVar updates, methods for allele

CYP2A6 now released on PharmVar

PharmVar and PharmGKB are excited to share that CYP2A6 has been transitioned into the PharmVar database. CYP2A6 metabolizes several substates including coumarin, nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Owing to its highly polymorphic nature, CYP2A6 activity varies considerably between individuals. Due to the complex nature of the CYP2A gene

Clinical Genomics Career Panel webinar series 2022

ClinGen is hosting a Clinical Genomics Career Panel webinar series this summer for individuals interested in career in clinical genomics. Sessions are moderated and panel members will discuss their work and career paths. All are welcome to join!

PharmGKB Acyclovir/Ganciclovir Pathway Published

The PharmGKB Acyclovir/Ganciclovir Pathway has recently been published in the journal Pharmacogenetics and Genomics. Acyclovir (ACV) and ganciclovir (GCV) are commonly prescribed antivirals to treat infections caused by herpes viruses, varicella-zoster virus or cytomegalovirus (eg. cold sores, shingles and chicken pox, etc.). The pathway, co-developed by Maud Maillard along

Expansion of pharmacogenetics education agreed as part of lawsuit settlement

Oregon Health & Science University (OHSU) will introduce new educational initiatives on the risks of prescribing the chemotherapy drug capecitabine to patients with DPD deficiency as part of a lawsuit settlement. The settlement was reached with Joanne McIntyre, whose husband David died as a result of severe capecitabine toxicity. David