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

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

Abstract 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%, INDEL recall remains below 80% for standard R9.4.1 flow...

Full description

Bibliographic Details
Main Authors: Tim Dunn, David Blaauw, Reetuparna Das, Satish Narayanasamy
Format: Article
Language:English
Published: BMC 2023-03-01
Series:BMC Bioinformatics
Subjects:
Germline variant calling
Alignment
N-polymer
Homopolymer
Short tandem repeat
Copy number
Online Access:https://doi.org/10.1186/s12859-023-05193-4

Internet

https://doi.org/10.1186/s12859-023-05193-4

Similar Items