In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics.

@article{Tchernitchko2004InSP,
  title={In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics.},
  author={Dimitri Olegovitch Tchernitchko and Michel Goossens and Henri Wajcman},
  journal={Clinical chemistry},
  year={2004},
  volume={50 11},
  pages={1974-8}
}
When a sequence variation is found in a candidate gene for a disease, it is important to establish whether this change is neutral or responsible for the observed disorders in a patient. To answer this question, in the absence of further experimental investigations, several simulation programs have been proposed to predict whether a nonsynonymous single-nucleotide polymorphism is likely to have or not have a deleterious effect on the phenotype. In this work, we tested two such programs, PolyPhen… CONTINUE READING

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