Real-time enrichment of a comprehensive pharmacogenomic panel with Oxford Nanopore sequencing

Overview

Accurate, rapid identification of pharmacogenomic (PGx) variants can provide information critical to understanding an individual’s response to pharmaceutical compounds, holding the potential for personalised medicine. Oxford Nanopore sequencing delivers accurate, comprehensive analysis of PGx targets from a single sample-to-star-allele workflow. Utilising real-time targeted sequencing with adaptive sampling, it is possible to enrich a comprehensive PGx panel with no need for additional library preparation steps.

This streamlined, end-to-end workflow provides unambiguous allele and variant calls, phased haplotypes, and full resolution of CYP2D6, for confident PGx analysis without compromise.

In this workflow overview, you will:

• Discover how adaptive sampling enables bioinformatics-based enrichment of PGx targets during sequencing
• Learn how to prepare samples for PCR-free sequencing, from extraction to simple multiplexed library preparation
• Learn about our recommended sequencing devices and data analysis with the EPI2ME platform