An end-to-end workflow for pharmacogenomic target enrichment, star allele annotation, and CYP2D6 resolution using nanopore sequencing
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This poster presents a targeted end-to-end pharmacogenomics workflow encompassing enrichment, sequencing, and star allele annotation of 18 genes with CPIC guidelines, including CYP2D6.
Download the poster to discover:
On-target capture efficiencies across all targets, as well as star allele concordance
Chinook, a tool for CYP2D6 locus reconstruction
How this approach resolves short-read mismapping errors
How methylation provides additional insights for pharmacogenetic variants
