Human genome assembly and analysis using R10.4.1, Kit 14, and duplex data

Abstract

Recent improvements in read length, accuracy, and software have enabled ultra-rapid, nanopore-based whole-genome sequencing analysis. The addition of Kit 14 chemistry and the R10.4.1 nanopore could yield state-of-the-art, phased, de novo assemblies exceeding Q40+ accuracy. Furthermore, duplex data, combined with DNA methylation information, will contribute towards genome finishing applications. This scalable and affordable framework could result in a paradigm shift for population-level genomics and human health applications. We present our latest results on genome assembly, variant calling, and evaluation of the R10.4.1 pore and Kit 14.