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

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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Bibliographic Details
Main Authors: Gayatri Ramakrishnan, Coos Baakman, Stephan Heijl, Bas Vroling, Ragna van Horck, Jeffrey Hiraki, Li C. Xue, Martijn A. Huynen
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Molecular Biosciences
Subjects:
protein structure
3D CNN
missense variant
machine learning
gain-of-function
loss-of-function
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2023.1204157/full

Internet

https://www.frontiersin.org/articles/10.3389/fmolb.2023.1204157/full

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