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

Genome Analysis and Visualization (6) Machine Learning (1001) Clinical Information and Decision Making (901) Decision Support for Health Professionals (734) Artificial Intelligence (662) Clinical Informatics (539)

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 , TW

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

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

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

Corresponding Author:

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