Article

Benchmarking small variant detection with ONT reveals high performance in challenging regions

2020-10-23

Abstract excerpt

<h4>Background</h4> The development of long read sequencing (LRS) has led to greater access to the human genome. LRS produces long read lengths at the cost of high error rates and has shown to be more useful in calling structural variants than short read sequencing (SRS) data. In this paper we evaluate how to use LRS data from Oxford Nanopore Technologies (ONT) to call small variants in regions in- and outside th...

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Literature Corpus work: 894b675e-33df-5546-a346-047146c4c362
DOI: 10.1101/2020.10.22.350009

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