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Duet: SNP-Assisted Structural Variant Calling and Phasing Using Oxford Nanopore Sequencing

2022-07-05

Abstract excerpt

<h4>Background</h4> Whole genome sequencing (WGS) using the long-read Oxford Nanopore Technologies (ONT) MinION sequencer provides a cost-effective option for structural variant (SV) detection in clinical applications. Despite the advantage of using long reads, however, accurate SV calling and phasing are still challenging. <h4>Results</h4> We introduce Duet, an SV detection tool optimized for SV calling and pha...

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Literature Corpus work
a71c47c5-09ce-59f4-8ce4-b3070e7b6b4f
DOI
10.1101/2022.07.04.498779
Open publication

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Duet: SNP-Assisted Structural Variant Calling and Phasing Using Oxford Nanopore SequencingDOI 10.1101/2022.07.04.498779
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