n PoRe: n -polymer realigner for improved pileup-based variant calling

Tim Dunn,David Blaauw,Reetuparna Das,Satish Narayanasamy

BMC bioinformatics（2023）

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摘要

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 exceeds 99.5

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关键词

Germline variant calling,Alignment,N-polymer,Homopolymer,Short tandem repeat,Copy number,Nanopore sequencing,Variable gap penalty

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