Article

Variant pathogenicity prediction based on the ESGMM algorithm

2024-05-25

Abstract excerpt

<title>Abstract</title> <p>Modeling the functional impact of sequence variation is a critical issue for both understanding and developing proteins. An Evolutionary Sequence and Gaussian Mixture Model (ESGMM) for predicting variant pathogenicity is presented in this paper. The model is trained on 2715 clinical proteins and their homologous sequences, using a Transformer-based protein language model to discover evo...

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Literature Corpus work: 900c8c76-a9f1-501b-bb59-fe1c863235c7
DOI: 10.21203/rs.3.rs-4380588/v1

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