Article

A <i>De Novo</i> Algorithm for Allele Reconstruction from Oxford Nanopore Amplicon Reads, with Application to <i>CYP2D6</i>

2025-11-08

Abstract excerpt

The Oxford Nanopore Technologies’ sequencing platform offers a path towards bedside genomics, producing long reads that can completely cover a gene of interest, and thus detect any known or novel variant the gene contains. However, the analysis of these long reads to identify actionable genotypes remains challenging and typically requires customization depending on the target gene. Here, we describe a generic algo...

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Literature Corpus work: 91037fb8-8da9-5e16-9c4e-8e1148d49d5f
DOI: 10.1101/2025.11.06.687066

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