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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
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| Materias: | |
| 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 |