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Accuracy of renovo predictions on variants reclassified over time.

Emanuele BonettiGiulia TiniLuca Mazzarella
Published in: Journal of translational medicine (2024)
Time trend analysis demonstrates that the current model of variant interpretation cannot keep up with variant discovery. Machine learning-based tools like RENOVO confirm high accuracy that can aid in clinical practice and research.
Keyphrases
  • machine learning
  • clinical practice
  • small molecule
  • copy number
  • high throughput
  • gene expression
  • deep learning
  • dna methylation