作者
Pablo Roman-Naranjo, Alberto M Parra-Perez, Jose A Lopez-Escamez
发表日期
2023/7/1
来源
Journal of biomedical informatics
卷号
143
页码范围
104429
出版商
Academic Press
简介
Background
The diagnosis of rare genetic diseases is often challenging due to the complexity of the genetic underpinnings of these conditions and the limited availability of diagnostic tools. Machine learning (ML) algorithms have the potential to improve the accuracy and speed of diagnosis by analyzing large amounts of genomic data and identifying complex multiallelic patterns that may be associated with specific diseases. In this systematic review, we aimed to identify the methodological trends and the ML application areas in rare genetic diseases.
Methods
We performed a systematic review of the literature following the PRISMA guidelines to search studies that used ML approaches to enhance the diagnosis of rare genetic diseases. Studies that used DNA-based sequencing data and a variety of ML algorithms were included, summarized, and analyzed using bibliometric methods, visualization tools, and a feature …
学术搜索中的文章
P Roman-Naranjo, AM Parra-Perez… - Journal of biomedical informatics, 2023