Predicting the effect of variants on splicing using Convolutional Neural Networks

Mutations that cause an error in the splicing of a messenger RNA (mRNA) can lead to diseases in humans. Various computational models have been developed to recognize the sequence pattern of the splice sites. In recent studies, Convolutional Neural Network (CNN) architectures were shown to outperform...

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Bibliographic Details
Main Authors: Thanyathorn Thanapattheerakul, Worrawat Engchuan, Jonathan H. Chan
Format: Article
Language:English
Published: PeerJ Inc. 2020-07-01
Series:PeerJ
Subjects:
Online Access:https://peerj.com/articles/9470.pdf