Genetic & Genomic MedicineJMIR Biomedical EngineeringPeer-reviewed
Machine Learning for Interpretation of DNA Variants of Maturity-Onset Diabetes of the Young Genes Based on ACMG Criteria
Yichuan Liu, Hui‐Qi Qu, Adam S Wenocur…·Hakon H. Hakonarson
This paper develops a machine learning model to interpret DNA variants in MODY genes using ACMG criteria, achieving over 95% accuracy for gene-specific classification.
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