Article
eRAM: encyclopedia of rare disease annotations for precision medicine.
Nucleic acids research - 4 Jan 2018
Jia Jinmeng, An Zhongxin, Ming Yue, Guo Yongli, Li Wei, Liang Yunxiang, Guo Dongming, Li Xin, Tai Jun, Chen Geng, Jin Yaqiong, Liu Zhimei, Ni Xin, Shi Tieliu
Abstract excerpt
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...
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