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HQAlign: Aligning nanopore reads for SV detection using current-level modeling
MOTIVATION: Detection of structural variants (SV) from the alignment of sample DNA reads to the reference genome is an important problem in understanding human diseases. Long reads that can span repeat regions, along with an accurate alignment of these long reads play an important role in identifyin...
Autores principales: | Joshi, Dhaivat, Diggavi, Suhas, Chaisson, Mark J.P., Kannan, Sreeram |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9881981/ https://www.ncbi.nlm.nih.gov/pubmed/36712127 http://dx.doi.org/10.1101/2023.01.08.523172 |
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