Title |
nPoRe: n-polymer realigner for improved pileup-based variant calling
|
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Published in |
BMC Bioinformatics, March 2023
|
DOI | 10.1186/s12859-023-05193-4 |
Pubmed ID | |
Authors |
Tim Dunn, David Blaauw, Reetuparna Das, Satish Narayanasamy |
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 cells. We show that read phasing and realignment can recover a significant portion of false negative INDELs. In particular, we extend Needleman-Wunsch affine gap alignment by introducing new gap penalties for more accurately aligning repeated n-polymer sequences such as homopolymers ([Formula: see text]) and tandem repeats ([Formula: see text]). At the same precision, haplotype phasing improves INDEL recall from 63.76 to [Formula: see text] and nPoRe realignment improves it further to [Formula: see text]. |
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Geographical breakdown
Country | Count | As % |
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United Kingdom | 2 | 13% |
United States | 2 | 13% |
Poland | 1 | 7% |
India | 1 | 7% |
Canada | 1 | 7% |
Unknown | 8 | 53% |
Demographic breakdown
Type | Count | As % |
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Scientists | 8 | 53% |
Members of the public | 7 | 47% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 4 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Unspecified | 1 | 25% |
Student > Ph. D. Student | 1 | 25% |
Researcher | 1 | 25% |
Student > Postgraduate | 1 | 25% |
Readers by discipline | Count | As % |
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Unspecified | 1 | 25% |
Agricultural and Biological Sciences | 1 | 25% |
Chemistry | 1 | 25% |
Unknown | 1 | 25% |