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Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence
BACKGROUND: Strict guidelines delimit the use of computational information in the clinical setting, due to the still moderate accuracy of in silico tools. These guidelines indicate that several tools should always be used and that full coincidence between them is required if we want to consider thei...
Autores principales: | de la Campa, Elena Álvarez, Padilla, Natàlia, de la Cruz, Xavier |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558188/ https://www.ncbi.nlm.nih.gov/pubmed/28812538 http://dx.doi.org/10.1186/s12864-017-3914-0 |
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