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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2015
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| 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 |