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BreakNet: detecting deletions using long reads and a deep learning approach
BACKGROUND: Structural variations (SVs) occupy a prominent position in human genetic diversity, and deletions form an important type of SV that has been suggested to be associated with genetic diseases. Although various deletion calling methods based on long reads have been proposed, a new approach...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8641175/ https://www.ncbi.nlm.nih.gov/pubmed/34856923 http://dx.doi.org/10.1186/s12859-021-04499-5 |