当前位置: 首页 > 详情页

RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis

文献详情

资源类型:

收录情况: ◇ SCIE

机构: [1]The Center for Bioinformatics and Computational Biology, Shanghai Key Laboratory of Regulatory Biology, The Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai, China, [2]Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, The Ministry of Education Key Laboratory of Major Diseases in Children, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China, [3]National Center for International Research of Biological Targeting Diagnosis and Therapy/Guangxi Key Laboratory of Biological Targeting Diagnosis and Therapy Research/Collaborative Innovation Center for Targeting Tumor Diagnosis and Therapy, Guangxi Medical University, Nanning, Guangxi, China
出处:
ISSN:

关键词: rare disease phenotype machine learning diagnostic model web-based tools

摘要:
DNA sequencing has allowed for the discovery of the genetic cause for a considerable number of diseases, paving the way for new disease diagnostics. However, due to the lack of clinical samples and records, the molecular cause for rare diseases is always hard to identify, significantly limiting the number of rare Mendelian diseases diagnosed through sequencing technologies. Clinical phenotype information therefore becomes a major resource to diagnose rare diseases. In this article, we adopted both a phenotypic similarity method and a machine learning method to build four diagnostic models to support rare disease diagnosis. All the diagnostic models were validated using the real medical records from RAMEDIS. Each model provides a list of the top 10 candidate diseases as the prediction outcome and the results showed that all models had a high diagnostic precision (>= 98%) with the highest recall reaching up to 95% while the models with machine learning methods showed the best performance. To promote effective diagnosis for rare disease in clinical application, we developed the phenotype-based Rare Disease Auxiliary Diagnosis system (RDAD) to assist clinicians in diagnosing rare diseases with the above four diagnostic models. The system is freely accessible through http://www.unimd.org/RDAD/.

基金:
语种:
被引次数:
WOS:
PubmedID:
中科院(CAS)分区:
出版当年[2017]版:
大类 | 2 区 生物
小类 | 3 区 遗传学
最新[2023]版:
大类 | 3 区 生物学
小类 | 3 区 遗传学
JCR分区:
出版当年[2016]版:
Q2 GENETICS & HEREDITY
最新[2023]版:
Q2 GENETICS & HEREDITY

影响因子: 最新[2023版] 最新五年平均 出版当年[2016版] 出版当年五年平均 出版前一年[2015版] 出版后一年[2017版]

第一作者:
第一作者机构: [1]The Center for Bioinformatics and Computational Biology, Shanghai Key Laboratory of Regulatory Biology, The Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai, China,
共同第一作者:
通讯作者:
通讯机构: [1]The Center for Bioinformatics and Computational Biology, Shanghai Key Laboratory of Regulatory Biology, The Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai, China, [2]Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, The Ministry of Education Key Laboratory of Major Diseases in Children, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China, [3]National Center for International Research of Biological Targeting Diagnosis and Therapy/Guangxi Key Laboratory of Biological Targeting Diagnosis and Therapy Research/Collaborative Innovation Center for Targeting Tumor Diagnosis and Therapy, Guangxi Medical University, Nanning, Guangxi, China
推荐引用方式(GB/T 7714):
APA:
MLA:

资源点击量:16409 今日访问量:0 总访问量:869 更新日期:2025-01-01 建议使用谷歌、火狐浏览器 常见问题

版权所有©2020 首都医科大学宣武医院 技术支持:重庆聚合科技有限公司 地址:北京市西城区长椿街45号宣武医院