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A collection of 54 issues

ClinGen Pharmacogenomics Working Group (PGxWG) Follow-Up Survey

The ClinGen Pharmacogenomics Working Group (PGxWG) has just launched a second survey to solicit feedback about the criteria and terminology that should be used to define clinical validity and actionability for pharmacogenes and variants from both the PGx community and the wider genetics and medical communities. Please note that this

ClinGen Pharmacogenomics Working Group (PGxWG) Survey

The ClinGen Pharmacogenomics Working Group (PGxWG) has launched a survey to solicit feedback about the criteria and terminology that should be used to define clinical validity and actionability for pharmacogenes and variants. The ClinGen PGxWG is a multi-disciplinary team of researchers and professionals with expertise in pharmacogenomics (PGx), clinical pharmacology,

PharmVar updates for CYP3A4 star allele definitions

PharmVar announces several updates for CYP3A4 star allele definitions. Retirement of the CYP3A4*1G allele: this allele was defined by a common variant in intron 10 (c.1026+12G>A) which was also found on many other haplotypes (or star alleles). PharmVar transiently designated the CYP3A4*1G allele as

CYP4F2 is now fully curated by PharmVar

CYP4F2 contributes to the synthesis of cholesterol, steroids and other lipids. It has been shown to regulate the bioavailability of vitamin E and vitamin K, a co-factor that is critical to blood clotting. Variations in this important pharmacogene can affect vitamin K levels and thus, the dosing of vitamin K

PharmGKB selected in the first list of Global Core Biodata Resources

We are pleased to announce that PharmGKB is included in the first list of Global Core Biodata Resources (GCBRs), a collection of resources whose long term funding and sustainability is critical to life science and biomedical research worldwide. The Global Biodata Coalition (GBC) brings together major public and charitable funders,

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

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!

Update to PharmGKB Pediatric Summaries - BPCA Drugs

The latest round of PharmGKB’s pediatric drug summaries is now live on PharmGKB pediatric. This release includes summaries for 55 drugs, bringing the total summary count to over 180, now including all drugs on the Best Pharmaceuticals for Children Act (BPCA) priority list in addition to all CPIC guideline

Ask a Curator for Healthcare Professionals on June 7th

We are holding an Ask a Curator zoom targeted towards healthcare professionals wanting to learn more about PharmGKB and pharmacogenomics. This is part of NHGRI’s Healthcare Professionals Genomics Education Week (#MedGeneEd22). Be sure to spread the word to colleagues who may find this useful. We are asking people to

"Ask a Curator" live zoom event

PharmGKB curators will hold a series of live Q&A events over Zoom to help people find and use different aspects of the knowledgebase. We hope this will be a great way to answer questions about PharmGKB and PGx which are specific to users’ individual needs or projects. These