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Article

Duet: SNP-assisted structural variant calling and phasing using Oxford nanopore sequencing.

BMC bioinformatics - 7 Nov 2022

Zhou Yekai, Leung Amy Wing-Sze, Ahmed Syed Shakeel, Lam Tak-Wah, Luo Ruibang

Abstract excerpt

BACKGROUND: Whole genome sequencing 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. RESULTS: We introduce Duet, an SV detection tool optimized for SV calling and phasing using ONT data....

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Identifiers

PMID: 36344913
DOI: 10.1186/s12859-022-05025-x
PMCID: PMC9639287

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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