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Sara Mazzucato1, Piervito Lopriore2, Francesco Daddoveri3
1Istituto di Biorobotica, Dipartimento di Eccellenza Robotics & AI, Scuola Superiore Sant'Anna, Pisa - Centro di Ricerca Interdisciplinare Health Science, Scuola Superiore Sant'Anna, Pisa.
Recenti Progressi in Medicina
|October 2, 2025
Abstract:
This study shows that machine learning can accurately distinguish between mitochondrial and nuclear DNA mutations in primary mitochondrial diseases using only non-genetic and non-histological clinical data. While language models underperform in comparison, they show potential as complementary diagnostic tools.