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EvoTol: a protein-sequence based evolutionary intolerance framework for disease-gene prioritization

Methods to interpret personal genome sequences are increasingly required. Here, we report a novel framework (EvoTol) to identify disease-causing genes using patient sequence data from within protein coding-regions. EvoTol quantifies a gene's intolerance to mutation using evolutionary conservati...

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Detalles Bibliográficos
Autores principales: Rackham, Owen J. L., Shihab, Hashem A., Johnson, Michael R., Petretto, Enrico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357693/
https://www.ncbi.nlm.nih.gov/pubmed/25550428
http://dx.doi.org/10.1093/nar/gku1322