Targeted adaptive sampling enables clinical pharmacogenomics testing and genome-wide genotyping

Over 90% of people carry variants that could impact drug efficacy or safety. Here, the authors validated Oxford Nanopore sequencing for haplotype-resolved testing of 35 pharmacogenomic targets. They achieved >99% and >95% accuracy for small and structural variants, respectively, and used off-target reads for genome-wide genotyping — demonstrating the potential of Oxford Nanopore sequencing as an accurate, scalable, and cost-effective tool for personalised medicine in the future.

Watch Pamela Gan’s lightning talk at London Calling 2025 in the auditorium.