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.

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Authors: Pamela Gan Hui Peng, Yeo Han Lin, Muhammad Irfan Bin Hajis, Yusuf Maulana, Audrey Ng Qi Hui, Kevin Nathanael Ramanto, Marta Nisita Dewanggana, Astrid Irwanto, Levana Sani, Ling Goh Liuh, Mar Gonzalez-Porta