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IMHOTEP—a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants

The in silico prediction of the functional consequences of mutations is an important goal of human pathogenetics. However, bioinformatic tools that classify mutations according to their functionality employ different algorithms so that predictions may vary markedly between tools. We therefore integr...

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Foilsithe in:Nucleic Acids Res
Main Authors: Knecht, Carolin, Mort, Matthew, Junge, Olaf, Cooper, David N., Krawczak, Michael, Caliebe, Amke
Formáid: Artigo
Teanga:Inglês
Foilsithe: Oxford University Press 2017
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5388428/
https://ncbi.nlm.nih.gov/pubmed/28180317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkw886
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