An end-to-end workflow for pharmacogenomic target enrichment, star allele annotation, and CYP2D6 resolution


LC2025 Pharmacogenetics PO_1245

Haplotype resolved variant calling, including CYP2D6 structural and copy number variations, through scalable Oxford Nanopore sequencing of pharmacogenetic gene panels and the EPI2ME wf-pgx analysis solution

Download the poster to discover:

  • How Oxford Nanopore adaptive sampling and the Twist Alliance Long-Read PGx Panel target and enrich pharmacogenes, allowing for scalable library preparation and streamlined analysis with wf-pgx
  • How The EPI2ME wf-pgx pipeline accurately genotypes CYP2D6 structural variants with Chinook, a targeted assembly method, and resolves SNV ambiguities in other pharmacogenes with PharmCAT