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White paper on assigning LOE to clinical annotations now published

A previous blog post described our new quantitative system for assigning a level of evidence (LOE) to clinical annotations. We are pleased to announce that our white paper about the system has now been published in Clinical Pharmacology and Therapeutics and is available on the PharmGKB website. The paper details

New PK pathways for drugs on the CPIC gene-drug pairs list

PharmGKB has curated new pathways for the pharmacokinetics of the following drugs that are on the CPIC gene-drug pairs list and either have existing guidelines or are slated for future consideration. Antidepressant: Trimipramine Inhaled anesthetics: Desflurane Enflurane Halothane Methoxyflurane Sevoflurane NSAIDs: Flurbiprofen Lornoxicam Meloxicam A complete list of PharmGKB pathways

CPIC releases guideline for MT-RNR1 and aminoglycosides

The CPIC guideline for aminoglycoside antibiotics and variation in the mitochondrial gene MT-RNR1 has been published in the journal Clinical Pharmacology and Therapeutics. Aminoglycosides are widely used antibiotics which inhibit protein synthesis in bacteria by binding to the bacterial 16S ribosomal subunit. They are also associated with adverse events, including

PharmGKB/CPIC Twitter chat for Healthcare Providers Genomics Education week

PharmGKB and CPIC recently hosted a Twitter chat sharing pharmacogenomics resources as part of NHGRI's Healthcare Providers Genomics Education week (#MedGeneEd21). An archive of the chat is displayed below. #MedGeneEd21 PGx chat - Curated tweets by pharmgkb

Expanded Pharmacokinetics Pathways for PPIs

The Proton Pump Inhibitor Pathway, Pharmacokinetics has been updated and expanded to now highlight four pathways with candidate genes and drug metabolites involved for: Omeprazole and esomeprazole, Lanzoprazole and dexlansoprazole, Pantoprazole and Rabeprazole. The pathways illustrate the subtle differences between the metabolism of drugs in the class, their different sensitivities

CPIC seeks feedback for MT-RNR1 terminology

We announced last December that the Clinical Pharmacogenetics Implementation Consortium (CPIC) was launching its Term Standardization Pharmacogenetic Test Results - Part 2 project. The project is currently focused on MT-RNR1, as that guideline wraps up. The MT-RNR1 Gene/Disease and PGx expert panels have agreed on terminology for MT-RNR1 and

Rollout of genotype picker tool on DPWG guideline annotations

The allele pull-down menu (also known as the genotype-picker tool) on PharmGKB annotations of CPIC guidelines is an extremely popular feature among users. We are pleased to now expand this functionality to annotations of guidelines from the Royal Dutch Association for the Advancement of Pharmacy - Pharmacogenetics Working Group (DPWG)

CYP3A4 now available in PharmVar

PharmVar and PharmGKB are excited to announce that CYP3A4 has been transitioned into the PharmVar database. Check it out here. Numerous changes and revisions have been made during an extensive curation process including limiting the upstream and downstream regions used for allele definitions and the removal of introns of unknown

PharmGKB introduces scoring system for variant and clinical annotations and updated Levels of Evidence

Since their introduction in 2010, clinical annotations have become one of the most popular features of PharmGKB. Each clinical annotation summarizes a phenotypic association between a drug and genetic variant, shows relevant findings from the curated literature as variant annotations and is assigned a level of evidence to indicate the

Two new pathways released: Allopurinol Pharmacokinetics and Pimozide Pharmacokinetics.

Allopurinol is a purine analogue used in the treatment of gout. This drug has a level A CPIC Guideline for allopurinol and HLA-B. The new pathway shows the candidate genes and metabolites involved in Allopurinol Pharmacokinetics.Pimozide is a typical antipsychotic FDA approved for treatment of Tourette’s disorder. The