Article
Machine learning to predict mitochondrial diseases by phenotypes.
Mitochondrion - 1 Sept 2025
Kuo Chieh-Wen, Chen Hui-An, Hsu Rai-Hseng, Wu Chao-Szu, Hsu Ching, Lee Ming-Jen, Chien Yin-Hsiu, Hsueh Hsueh-Wen, Yang Feng-Jung, Fan Pi-Chuan, Weng Wen-Chin, Lin Ru-Jen, Chen Ta-Ching, Yang Chih-Chao, Lee Wang-Tso, Hwu Wuh-Liang, Lee Ni-Chung
Abstract excerpt
Diagnosing mitochondrial diseases remains challenging because of the heterogeneous symptoms. This study aims to use machine learning to predict mitochondrial diseases from phenotypes to reduce genetic testing costs. This study included patients who underwent whole exome or mitochondrial genome sequencing for suspected mitochondrial diseases. Clinical phenotypes were coded, and machine learning models (support...
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