A multi-omics annotation platform for rare disease to benefit precision medicine

In recent years, with the development of biomedical technology as well as the concept of “precision medicine”, much effort has been devoted to relevant preclinical and clinical research, leading to the molecular study of diseases. Meanwhile, the diagnosis and treatment of diseases are becoming more and more personalized. With low incidence, complicated pathogenesis and large difficulty in treatment, rare diseases have aroused public awareness. Latest studies have found that detailed clinical phenotype is the keystone of deciphering genes and precise treatment for rare diseases. To develop precision medicine and to improve the diagnosis and treatment of rare diseases, we built a standardized Chinese platform named Encyclopedia of Rare Disease Annotation for Precision Medicine (eRAM, www.unimd.cn/eram ), which systematically integrates the clinical manifestations and molecular annotations of rare diseases and provides new connections among rare diseases. At present, the platform contains a rich annotation for 15,942 rare diseases, including 6,147 human disease-related phenotypes, 31,661 mammalian phenotypes, 10,202 symptoms from UMLS, 18,815 genes, and 92,580 genotypes. eRAM provides enriched disease multi-level annotations, as well as connections among rare diseases. Moreover, additional functions are provided, including disease prediction and EMR (electric medical records) submission for users, providing information about rare disease mechanisms and assisting clinicians to make accurate diagnosis and treatment decisions for rare diseases.