PharmVar announces the release of a major update. Notable new features include a revised haplotype naming system, the introduction of unique haplotype IDs, displaying impact next to the causative SNV in brackets and a revised allele (CYP2D6*14A is now *114). The new gene page design has customizable display options and allows the user to see variation info across reference sequences and genome builds and rsIDs without leaving the page.
The update also features nomenclature for the first non-CYP gene, NUDT15. Papers describing the new features, and how NUDT15 nomenclature was developed are close to being published in CPT. A presentation with an overview of PharmVar and highlights of the new features can be found under the ABOUT tab. It’s pretty cool – check it out at www.pharmvar.org
The Hub team