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
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