Presented at London Calling 2016

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Author: Arthur C Rand
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Cytosine Variant Calling with High-throughput Nanopore Sequencing


Created on 4th April 2016

Arthur C Rand; Miten Jain; Jordan Eizenga; Audrey Musselman-Brown; Hugh E Olsen; Mark Akeson; Benedict Paten;


Chemical modifications to DNA regulate cellular state and function. The Oxford Nanopore MinION is a portable single-molecule DNA sequencer that can sequence long fragments of genomic DNA. Here we show that the MinION can be used to detect and map two chemical modifications cytosine, 5-methylcytosine and 5-hydroxymethylcytosine. We present a probabilistic method that enables expansion of the nucleotide alphabet to include bases containing chemical modifications. Our results on synthetic DNA show that individual cytosine base modifications can be classified with accuracy up to 95% in a three-way comparison and 98% in a two-way comparison.

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