Simulated Rare Disease Patients HPO - IMCLA 2024
收藏DataCite Commons2024-12-23 更新2025-04-19 收录
下载链接：
https://figshare.com/articles/dataset/Simulated_Rare_Disease_Patients_HPO_-_IMCLA_2024/27155997
下载链接
链接失效反馈官方服务：
资源简介：
This dataset contains nearly 5 million simulated rare disease patients. The patients are represented by HPO terms. There are 1000 patients simulated for each of approximately 5,000 disease genes as referenced in the Human Phenotype Ontology resources. Details on the method used for patient simulation are provided in the ICMLA 2024 paper, Automated Shared Phenotype Discovery in Undiagnosed Cohorts for Rare Disease Research and https://github.com/masino-lab/icmla-2024
提供机构：
figshare
创建时间：
2024-12-23
