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Validation of genetic variants from NGS data using deep convolutional neural networks

Accurate somatic variant calling from next-generation sequencing data is one most important tasks in personalised cancer therapy. The sophistication of the available technologies is ever-increasing, yet, manual candidate refinement is still a necessary step in state-of-the-art processing pipelines....

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Detalles Bibliográficos
Autores principales: Vaisband, Marc, Schubert, Maria, Gassner, Franz Josef, Geisberger, Roland, Greil, Richard, Zaborsky, Nadja, Hasenauer, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10116675/
https://www.ncbi.nlm.nih.gov/pubmed/37081386
http://dx.doi.org/10.1186/s12859-023-05255-7