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

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

Authors of this article:

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