Table 3.
Deep Learning in SNV and Indel Detection
Model Type | Appliance | Study |
---|---|---|
Convolutional Neural Network (CNN) | For automated extraction of local features from genetic data, detection of SNVs and Indels | Improved accuracy and recall of variant detection109 |
Randomized neural networks (RNNs) and LSTMs | For capturing temporal dependence in gene expression, especially in low-frequency mutation detection110,111 | Excellent performance in low-frequency mutation detection |
Variable Auto-Encoder (VAE) | Detection of cancer-associated SNVs and Indels by generating patterns of potential variants | Successful identification of multiple mutations associated with cancer111 |