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Predicting disease variants using biodiversity and machine learning

An algorithm that uses evolutionary data to predict disease variants makes a case for embracing computational evidence for clinical interpretation of genetic variation.

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Fig. 1: The EVE model predicts human variant pathogenicity using evolutionary information.


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Correspondence to Nuria Lopez-Bigas.

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Arnedo-Pac, C., Lopez-Bigas, N. & Muiños, F. Predicting disease variants using biodiversity and machine learning. Nat Biotechnol 40, 27–28 (2022).

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