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 200241, 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 100045, 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]Beijing Key Laboratory for Genetics of Birth Defects, The Ministry of Education Key Laboratory of Major Diseases in Children, Center for Medical Genetics, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China科研平台职能科室出生缺陷遗传学研究室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
Rare diseases affect over a hundred million people worldwide, most of these patients are not accurately diagnosed and effectively treated. The limited knowledge of rare diseases forms the biggest obstacle for improving their treatment. Detailed clinical phenotyping is considered as a keystone of deciphering genes and realizing the precision medicine for rare diseases. Here, we preset a standardized system for various types of rare diseases, called encyclopedia of Rare disease Annotations for Precision Medicine (eRAM). eRAM was built by text-mining nearly 10 million scientific publications and electronic medical records, and integrating various data in existing recognized databases (such as Unified Medical Language System (UMLS), Human Phenotype Ontology, Orphanet, OMIM, GWAS). eRAM systematically incorporates currently available data on clinical manifestations and molecular mechanisms of rare diseases and uncovers many novel associations among diseases. eRAM provides enriched annotations for 15 942 rare diseases, yielding 6147 human disease related phenotype terms, 31 661 mammalians phenotype terms, 10,202 symptoms from UMLS, 18 815 genes and 92 580 genotypes. eRAM can not only provide information about rare disease mechanism but also facilitate clinicians to make accurate diagnostic and therapeutic decisions to-wards rare diseases. eRAM can be freely accessed at http://www.unimd.org/eram/.
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 Natural Science Foundation of ChinaNational Natural Science Foundation of China [31671377]; Shanghai 111 Project [B14019]; Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding Support [ZYLX201508]; Beijing Municipal Science and Technology Project [D131100005313014]
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 200241, 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 200241, 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 100045, China
推荐引用方式(GB/T 7714):
Jinmeng Jia,Zhongxin An,Yue Ming,et al.eRAM: encyclopedia of rare disease annotations for precision medicine[J].NUCLEIC ACIDS RESEARCH.2018,46(D1):D937-D943.doi:10.1093/nar/gkx1062.
APA:
Jinmeng Jia,Zhongxin An,Yue Ming,Yongli Guo,Wei Li...&Tieliu Shi.(2018).eRAM: encyclopedia of rare disease annotations for precision medicine.NUCLEIC ACIDS RESEARCH,46,(D1)
MLA:
Jinmeng Jia,et al."eRAM: encyclopedia of rare disease annotations for precision medicine".NUCLEIC ACIDS RESEARCH 46..D1(2018):D937-D943