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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...

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Detalles Bibliográficos
Autores principales: Joshi, Dhaivat, Diggavi, Suhas, Chaisson, Mark J.P., Kannan, Sreeram
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cornell University 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9882582/
https://www.ncbi.nlm.nih.gov/pubmed/36713252

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