rachellea / medgenetics

Mutation pathogenicity prediction for channelopathic and cardiomyopathic genes RYR2, KCNQ1, KCNH2, and SCN5A

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GENESIS

This is the code for the mutation pathogenicity prediction model GENESIS (GENe-specific EnSemble grId Search). GENESIS identifies high-performing, gene-specific logistic regression and feedforward neural network models that predict whether a mutation will cause disease.

If you find this code helpful, please consider citing us:

Draelos, Rachel L., Jordan E. Ezekian, Farica Zhuang, Mary E. Moya-Mendez, Zhushan Zhang, Michael B. Rosamilia, Perathu KR Manivannan, Ricardo Henao, and Andrew P. Landstrom. "GENESIS: Gene-Specific Machine Learning Models for Variants of Uncertain Significance Found in Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome-Associated Genes." Circulation: Arrhythmia and Electrophysiology 15, no. 4 (2022): e010326.

Requirements

Python 3.5.1 See requirements.txt for packages

A tutorial is coming soon!

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Mutation pathogenicity prediction for channelopathic and cardiomyopathic genes RYR2, KCNQ1, KCNH2, and SCN5A

License:MIT License


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Language:Python 100.0%