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...

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Detalles Bibliográficos
Autores principales: de la Campa, Elena Álvarez, Padilla, Natàlia, de la Cruz, Xavier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
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

Internet

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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