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, Jingchun Qu, Xiao Chang, Joseph Glessner, Patrick M. Abou‐Sleiman, Lifeng Tian, 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.
JMIR Biomedical Engineering · Nov 3, 2020Peer-reviewedGenetic & Genomic Medicine