Article

<i>n</i> PoRe: <i>n</i> -Polymer Realigner for improved pileup variant calling

2022-02-18

Abstract excerpt

<h4>ABSTRACT</h4> Despite recent improvements in nanopore basecalling accuracy, germline variant calling of small insertions and deletions (INDELs) remains poor. Although precision and recall for single nucleotide polymorphisms (SNPs) now regularly exceeds 99.5%, INDEL recall at relatively high coverages (85×) remains below 80% for standard R9.4.1 flow cells [22, 23, 31]. Current nanopore variant callers work in...

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Literature Corpus work: b76983de-9815-5f8b-90e7-dde5a663f84d
DOI: 10.1101/2022.02.15.480561

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