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Enhancing breakpoint resolution with deep segmentation model: A general refinement method for read-depth based structural variant callers

Read-depths (RDs) are frequently used in identifying structural variants (SVs) from sequencing data. For existing RD-based SV callers, it is difficult for them to determine breakpoints in single-nucleotide resolution due to the noisiness of RD data and the bin-based calculation. In this paper, we pr...

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Detalles Bibliográficos
Autores principales: Zhang, Yao-zhong, Imoto, Seiya, Miyano, Satoru, Yamaguchi, Rui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504719/
https://www.ncbi.nlm.nih.gov/pubmed/34634042
http://dx.doi.org/10.1371/journal.pcbi.1009186