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

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 c...

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Detalles Bibliográficos
Autores principales: Zhou, Yekai, Leung, Amy Wing-Sze, Ahmed, Syed Shakeel, Lam, Tak-Wah, Luo, Ruibang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9639287/
https://www.ncbi.nlm.nih.gov/pubmed/36344913
http://dx.doi.org/10.1186/s12859-022-05025-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9639287/
https://www.ncbi.nlm.nih.gov/pubmed/36344913
http://dx.doi.org/10.1186/s12859-022-05025-x

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