CNNScoreVariants
Annotates a VCF with scores from a Convolutional Neural Network.
What it does
Annotates a VCF with scores from a Convolutional Neural Network. Streams variants and their reference context to a Python program that evaluates a pre-trained neural network on each variant. Supports 1D models (reference sequence convolutions combined with variant annotations via a multilayer perceptron) and 2D models (convolutions over aligned reads, reference sequence, and variant annotations). Pre-trained 1D and 2D models are included in the distribution; users can also train custom models with CNNVariantWriteTensors and CNNVariantTrain.
- Variant filtering
- Annotating VCF files with CNN-based scores
- Applying pre-trained 1D and 2D neural network models to variants
- Category
- Healthcare data and research
- Users
- Bioinformatics researchers and practitioners performing variant filtering
- Public API
- Not offered
- Deployment
- Self-hosted, On-premises
Not yet disclosed: platforms, languages and support channels.
Pricing
Pricing isn't published
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Security and compliance
No security details published yet
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