Demag predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features

HIGHLIGHTS

  • who: Federica Luppino from the (UNIVERSITY) have published the research: DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features, in the Journal: (JOURNAL) of 25/04/2022
  • what: The authors develop Deciphering Mutations in Actionable Genes (DeMAG), a supervised classifier for missense variants trained using extensive diagnostic data available in 59 actionable disease genes (American College of Medical Genetics and Genomics Secondary Findings v2.0, ACMG SF v2.0). The authors provide the tool and predictions for all missense variants in 316 clinically actionable disease genes (demag . . .

     

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