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,临床科室科研平台职能科室耳鼻咽喉头颈外科临床流行病与循证医学中心儿科研究所首都医科大学附属北京儿童医院[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
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:
China Human Proteomics Project [2014DFB30010,2014DFB30030]; National High Technology Research and Development Program of ChinaNational High Technology Research and Development Program of China [2015AA020108]; National Science Foundation of ChinaNational Natural Science Foundation of China [31671377, 31771460, 91629103]; Shanghai 111 Project [B14019]
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):
Jinmeng Jia,Ruiyuan Wang,Zhongxin An,et al.RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis[J].FRONTIERS IN GENETICS.2018,9:-.doi:10.3389/fgene.2018.00587.
APA:
Jinmeng Jia,Ruiyuan Wang,Zhongxin An,Yongli Guo,Xi Ni&Tieliu Shi.(2018).RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis.FRONTIERS IN GENETICS,9,
MLA:
Jinmeng Jia,et al."RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis".FRONTIERS IN GENETICS 9.(2018):-