Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

HIGHLIGHTS

• who: Xiaolei Zhang from the (UNIVERSITY) have published the research: Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions, in the Journal: (JOURNAL) of 13/Oct/2020
• what: For these reasons, while the authors show advantages of the proposed model for variant classification in known disease genes over existing genome-wide tools, the authors emphasize that CardioBoost is not intended for use as a standalone clinical decision tool, or as a replacement for the existing ACMG/ AMP guidelines for variant interpretation.
• how: The authors explored alternative models for cardiomyopathy . . .
  

   

  

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