Structural dynamics is a determinant of the functional significance of missense variants

@article{Ponzoni2018StructuralDI,
  title={Structural dynamics is a determinant of the functional significance of missense variants},
  author={Luca Ponzoni and Ivet Bahar},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2018},
  volume={115},
  pages={4164 - 4169}
}
  • Luca Ponzoni, I. Bahar
  • Published 2 February 2018
  • Biology
  • Proceedings of the National Academy of Sciences of the United States of America
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… 

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