Article
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency.
Human mutation - 1 Sept 2018
Giacopuzzi Edoardo, Laffranchi Mattia, Berardelli Romina, Ravasio Viola, Ferrarotti Ilaria, Gooptu Bibek, Borsani Giuseppe, Fra Annamaria
Abstract excerpt
The growth of publicly available data informing upon genetic variations, mechanisms of disease, and disease subphenotypes offers great potential for personalized medicine. Computational approaches are likely required to assess a large number of novel genetic variants. However, the integration of genetic, structural, and pathophysiological data still represents a challenge for computational predictions and their...
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