Optimo-ldlr: an integrated in silico model with enhanced predictive power for ldl receptor variants, unraveling hot spot pathogenic residues

HIGHLIGHTS

• What: To enhance the prediction of pathogenic variants in the LDLR, this study aims to integrate the predicted effects of each missense mutation using existing software, thereby enhancing the individual predictive capabilities of these tools. 2024, 11, 2305177 To validate the model, the authors obtained the predicted pathogenicity scores of 93 LDLR variants classified as Benign/Likely Benign /Pathogenic/Likely Pathogenic by the ClinVar expert panel. OptiMo-LDLr model shows higher reliability than the individual ones and as the result of optimizing each software contribution, this model provides a higher predictive power than each software when tested . . .
  

   

  

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