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Family-specific analysis of variant pathogenicity prediction tools

Using the presently available datasets of annotated missense variants, we ran a protein family-specific benchmarking of tools for predicting the pathogenicity of single amino acid variants. We find that despite the high overall accuracy of all tested methods, each tool has its Achilles heel, i.e. pr...

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Detalles Bibliográficos
Autores principales: Zaucha, Jan, Heinzinger, Michael, Tarnovskaya, Svetlana, Rost, Burkhard, Frishman, Dmitrij
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7671395/
https://www.ncbi.nlm.nih.gov/pubmed/33575576
http://dx.doi.org/10.1093/nargab/lqaa014