Thank you for your interest in long-read nanopore pharmacogenomic sequencing (PGx workflow). This product is currently moving in to the Beta testing phase and will available soon for testing for selected users.
Conventional microarray and short-read sequencing technologies have limited resolution for pharmacogenomic sequencing. Nanopore long-read sequencing technology overcomes these limitations by providing the ability to disambiguate pseudogene homology, detect and characterize complicated structural variants and gene-pseudogene conversions, and phase haplotypes. In collaboration with Twist Bioscience, Oxford Nanopore has demonstrated a sample-to-star allele workflow with high performance.
The end-to-end workflow combines the Twist Alliance Long-Read PGx Panel with Oxford Nanopore Technology library preparation, sequencing, data analysis, and star allele calling (Figure 1). The Twist panel captures 49 genes covering 2 Mb of the genome (Figure 2).
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