dohlee/spliceai-pytorch
Implementation of SpliceAI, Illumina's deep neural network to predict variant effects on splicing, in PyTorch.
This tool helps geneticists and researchers evaluate how genetic variations in DNA sequences might impact gene splicing. You input a genetic variant within a DNA sequence, and it outputs predictions about how likely that variant is to create or destroy splice sites, which are critical for proper gene function. Genetic researchers, clinical geneticists, and bioinformatics specialists who study genetic diseases would use this to understand potential disease mechanisms.
No commits in the last 6 months. Available on PyPI.
Use this if you need to predict the effect of genetic variants on splicing, helping to identify potential disease-causing mutations.
Not ideal if you are looking for a tool to analyze gene expression levels or protein folding, as its scope is specifically focused on splicing prediction.
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Jupyter Notebook
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Last pushed
Mar 03, 2023
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