Understanding structure-guided variant effect predictions using 3D convolutional neural networks

Predicting pathogenicity of missense variants in molecular diagnostics remains a challenge despite the available wealth of data, such as evolutionary information, and the wealth of tools to integrate that data. We describe DeepRank-Mut, a configurable framework designed to extract and learn from phy...

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Detalles Bibliográficos
Autores principales: Ramakrishnan, Gayatri, Baakman, Coos, Heijl, Stephan, Vroling, Bas, van Horck, Ragna, Hiraki, Jeffrey, Xue, Li C., Huynen, Martijn A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10354367/
https://www.ncbi.nlm.nih.gov/pubmed/37475887
http://dx.doi.org/10.3389/fmolb.2023.1204157

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10354367/
https://www.ncbi.nlm.nih.gov/pubmed/37475887
http://dx.doi.org/10.3389/fmolb.2023.1204157

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