Generative modeling; Protein; Mutation effects prediction

Disease Variant Prediction with Deep Generative Models of Evolutionary Data

Disease Variant Prediction with Deep Generative Models of Evolutionary Data

Jonathan Frazer, Pascal Notin, Mafalda Dias, Aidan Gomez, Joseph Min, Kelly Brock, Yarin Gal, Debora Marks
Nature, 2021. Deep Generative Models (Bayesian VAEs) of evolutionary sequences to predict the effects of missense mutations in human proteins.
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