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

Abstract 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...

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Autors principals:	Yekai Zhou, Amy Wing-Sze Leung, Syed Shakeel Ahmed, Tak-Wah Lam, Ruibang Luo
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2022-11-01
Col·lecció:	BMC Bioinformatics
Matèries:	Structural variant (SV) calling SV phasing SV genotyping SNP calling Oxford Nanopore Sequencing
Accés en línia:	https://doi.org/10.1186/s12859-022-05025-x
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