Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence

Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence

Elena Álvarez de la Campa1,2, Natàlia Padilla1 and Xavier de la Cruz1,3*

From VarI-SIG 2016: identification and annotation of genetic variants in the context of structure, function, and disease Orlando, Florida, USA. 09 July 2016

Conclusion. Focusing development efforts on the case of variants for which known methods disagree we may obtain pathogenicity predictors with improved performances. Although we have not yet reached the success rate that allows the use of this computational evidence in a clinical setting, the simplicity of the approach indicates that more advanced methods may reach this goal in a close future.

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