La Red Pirepred se amplia

De acuerdo con los objetivos del proyecto Pirepred, esta Red transfronteriza de interpretación del cribado neonatal | Un réseau Trans-Frontalier d’interprétation du criblage néonatal | FEDER, se ha visto ampliada por la inclusión de 2 nuevos socios asociados.

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Las dos entidades son: la Agencia Estatal Consejo Superior de Investigaciones Científicas (CSIC), y el Hospital Sant Joan de Déu (HSJD), representadas por Juan Fernández Recio y Francesc Palau, respectivamente.

Desde aquí les agradecemos su buena disposición a formar parte de nuestro proyecto y les damos una calurosa bienvenida.

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.

Full text 2017