Diagnosis of a Single-Nucleotide Variant in Whole-Exome Sequencing Data for Patients With Inherited Diseases: Machine Learning Study Using Artificial Intelligence Variant Prioritization

Yu-Shan Huang   ¹ , MSc ;   Ching Hsu   ² , MSc ;   Yu-Chang Chune   ¹ , MSc ;   I-Cheng Liao   ¹ , MSc ;   Hsin Wang   ² , MSc ;   Yi-Lin Lin   ³ , MSc ;   Wuh-Liang Hwu   ⁴ , MD, PhD ;   Ni-Chung Lee   ³ , MD, PhD ;   Feipei Lai   ^{1, 2} , PhD

¹ Department of Computer Science and Information Engineering, National Taiwan University, Taipei City, Taiwan

² Graduate Institute of Biomedical Electronics and Bioinformatics, National Taiwan University, Taipei City, Taiwan

³ Department of Medical Genetics, National Taiwan University Hospital, Taipei City, Taiwan

⁴ Department of Pediatrics, National Taiwan University Hospital, Taipei City, Taiwan