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README.md

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[![DOI](https://zenodo.org/badge/328127288.svg)](https://zenodo.org/badge/latestdoi/328127288)
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# Evolutionary model of Variant Effects (EVE)
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This is the official code repository for the paper "Large-scale clinical interpretation of genetic variants using evolutionary data and deep learning" (https://www.biorxiv.org/content/10.1101/2020.12.21.423785v1). This project is a joint collaboration between the Marks lab (https://www.deboramarkslab.com/) and the OATML group (https://oatml.cs.ox.ac.uk/).
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Please note that we have migrated the official repo to the following address: https://github.com/OATML-Markslab/EVE.
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## Overview
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EVE is a set of protein-specific models providing for any single amino acid mutation of interest a score reflecting the propensity of the resulting protein to be pathogenic. For each protein family, a Bayesian VAE learns a distribution over amino acid sequences from evolutionary data. It enables the computation of an evolutionary index for each mutant, which approximates the log-likelihood ratio of the mutant vs the wild type. A global-local mixture of Gaussian Mixture Models separates variants into benign and pathogenic clusters based on that index. The EVE scores reflect probabilistic assignments to the pathogenic cluster.
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## Reference
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If you use this code, please cite the following paper:
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```
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Large-scale clinical interpretation of genetic variants using evolutionary data and deep learning
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Jonathan Frazer, Pascal Notin, Mafalda Dias, Aidan Gomez, Kelly Brock, Yarin Gal, Debora S. Marks
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bioRxiv 2020.12.21.423785
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doi: https://doi.org/10.1101/2020.12.21.423785
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```bibtex
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@article{Frazer2021DiseaseVP,
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title={Disease variant prediction with deep generative models of evolutionary data.},
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author={Jonathan Frazer and Pascal Notin and Mafalda Dias and Aidan Gomez and Joseph K Min and Kelly P. Brock and Yarin Gal and Debora S. Marks},
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journal={Nature},
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year={2021}
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}
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```

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