A Multiplex Pharmacogenetics Assay using the MinION Nanopore Sequencing Device
A Multiplex Pharmacogenetics Assay using the MinION Nanopore Sequencing Device
Abstract AimThe MinION nanopore sequencing device opens the opportunity to cost-effective and point-of-care DNA sequencing. We developed a multiplex assay targeting pharmacogenetic variants related to clopidogrel and warfarin, two commonly used drugs that show response variability due to genetic polymorphisms. Materials & MethodsSix reference and 78 clinical DNA samples were amplified by PCR to generate 15 amplicons targeting key variants. These products were then barcoded to enable sample multiplexing. Three variant calling tools were used to compare genotyping accuracy. Results and ConclusionsAll but three samples were successfully sequenced and genotyped. Nanopolish software achieved accuracy > 90 % for all except one variant. While minor mis-genotyping issues exist, this work demonstrates that drug-specific or broad pharmacogenetic screening assays are possible on the MinION sequencing device.
Cree Simone L.、Gladding Patrick A.、Pearson John F.、Kennedy Martin A.、Maggo Simran、Liau Yusmiati、Miller Allison L.
Department of Pathology and Biomedical Science, University of OtagoTheranostics Laboratory, North Shore HospitalDepartment of Pathology and Biomedical Science, University of OtagoDepartment of Pathology and Biomedical Science, University of OtagoDepartment of Pathology and Biomedical Science, University of OtagoDepartment of Pathology and Biomedical Science, University of OtagoDepartment of Pathology and Biomedical Science, University of Otago
医学研究方法药学遗传学
MinIONNanopore sequencingpharmacogenetics panelclopidogrelwarfarin
Cree Simone L.,Gladding Patrick A.,Pearson John F.,Kennedy Martin A.,Maggo Simran,Liau Yusmiati,Miller Allison L..A Multiplex Pharmacogenetics Assay using the MinION Nanopore Sequencing Device[EB/OL].(2025-03-28)[2025-05-15].https://www.biorxiv.org/content/10.1101/563262.点此复制
评论