期刊
NUCLEIC ACIDS RESEARCH
卷 46, 期 D1, 页码 D937-D943出版社
OXFORD UNIV PRESS
DOI: 10.1093/nar/gkx1062
关键词
-
资金
- China Human Proteomics Project [2014DFB30010, 2014DFB30030]
- National High Technology Research and Development Program of China [2015AA020108]
- National 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]
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/.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据