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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...
Autores principales: | Knecht, Carolin, Mort, Matthew, Junge, Olaf, Cooper, David N., Krawczak, Michael, Caliebe, Amke |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388428/ https://www.ncbi.nlm.nih.gov/pubmed/28180317 http://dx.doi.org/10.1093/nar/gkw886 |
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