PGx Allele Definitions and PGx Guidelines

DRAGEN Array star allele calling leverages the star allele definitions provided by PharmVar and PharmGKB. DRAGEN Array star allele phenotype annotation, using the “star-alle annotate” command, is achieved through direct lookup into public PGx guidelines CPIC or DPWG, which is selected by the user when running DRAGEN Array.

See table below for details of the data sources.

Data Source	Version	URL
PharmVar	6.0.5	https://www.pharmvar.org
PharmGKB	Snapshot-2023.08.30	https://www.pharmgkb.org/
CPIC guidelines	1.30.0	https://cpicpgx.org/guidelines/ https://github.com/cpicpgx/cpic-data/
DPWG guidelines	June 2023	https://www.pharmgkb.org/page/dpwgMapping

DRAGEN Array “star-alle annotate” command provides both metabolizer status and activity score annotations for genes covered by the CPIC and DPWG guidelines.

Specifically, CPIC metabolizer/phenotype annotations are supported for CACNA1S, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A5, DPYD, G6PD, MT-RNR1, NUDT15, RYR1, SLCO1B1, TPMT, UGT1A1, CFTR, IFNL3/IFNL4 and VKORC1, among them activity scores are supported for CYP2C9, CYP2D6, and DPYD. DPWG metabolizer/phenotype annotations are supported for CYP1A2, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, DPYD, NUDT15, SLCO1B1, TPMT, UGT1A1, VKORC1 and F5, among them activity scores are supported for CYP2D6 and DPYD.