This paper is in the following e-collection/theme issue:

Genome Analysis and Visualization (13) Machine Learning (1194) Clinical Information and Decision Making (1125) Decision Support for Health Professionals (930) Artificial Intelligence (922) Clinical Informatics (706)

Published on in Vol 3, No 1 (2022): Jan-Dec

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/37701, first published .
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

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 Author Orcid Image ;   Ching Hsu 2 Author Orcid Image ;   Yu-Chang Chune 1 Author Orcid Image ;   I-Cheng Liao 1 Author Orcid Image ;   Hsin Wang 2 Author Orcid Image ;   Yi-Lin Lin 3 Author Orcid Image ;   Wuh-Liang Hwu 4 Author Orcid Image ;   Ni-Chung Lee 3 Author Orcid Image ;   Feipei Lai 1, 2 Author Orcid Image
Article Authors Cited by Tweetations (2) Metrics

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

Corresponding Author:

  • Feipei Lai, PhD
  • Graduate Institute of Biomedical Electronics and Bioinformatics
  • National Taiwan University
  • Number 1, Roosevelt Road, Section 4
  • Taipei City, 106319
  • Taiwan
  • Phone: 886 2-33664924
  • Fax: 886 2-23628167
  • Email: flai@ntu.edu.tw