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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...

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Detalles Bibliográficos
Autores principales: Luo, Junwei, Ding, Hongyu, Shen, Jiquan, Zhai, Haixia, Wu, Zhengjiang, Yan, Chaokun, Luo, Huimin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
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