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National Academy of Sciences, Proceedings of the National Academy of Sciences, 16(115), p. 4164-4169, 2018

DOI: 10.1073/pnas.1715896115

Elsevier, Biophysical Journal, 3(114), p. 232a, 2018

DOI: 10.1016/j.bpj.2017.11.1291

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Structural Dynamics is a Determinant of the Functional Significance of Missense Variants

Journal article published in 2018 by Luca Ponzoni ORCID, Ivet Bahar ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Significance Discrimination of clinically relevant mutations from neutral mutations is of paramount importance in precision medicine and pharmacogenomics. Our study shows that current computational predictions of pathogenicity, mostly based on analysis of sequence conservation, may be improved by considering the changes in the structural dynamics of the protein due to point mutations. We introduce and demonstrate the utility of a classifier that takes advantage of efficient evaluation of structural dynamics by elastic network models.