Article
Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence.
BMC genomics - 11 Aug 2017
de la Campa Elena Álvarez, Padilla Natàlia, de la Cruz Xavier
Abstract excerpt
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 their results as supporting evidence in medical decision processes. Application of this simple rule certainly decreases...
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