Open AccessDiagnosis of a Single-Nucleotide Variant in Whole-Exome Sequencing Data for Patients With Inherited Diseases: Machine Learning Study Using Artificial Intelligence Variant Prioritization
Author(s) -
Yushan Huang,
Ching Hsu,
Yu-Chang Chune,
I-Cheng Liao,
Hsin Wang,
Yilin Lin,
WuhLiang Hwu,
NiChung Lee,
Feipei Lai
Publication year - 2022
Publication title -
jmir bioinformatics and biotechnology
Language(s) - English
Resource type - Journals
ISSN - 2563-3570
DOI - 10.2196/37701
Subject(s) - exome sequencing , exome , artificial intelligence , computer science , machine learning , dna sequencing , data mining , computational biology , bioinformatics , mutation , genetics , biology , gene