Engaging a community to enable disease-centric data sharing with the NF Data Portal
Engaging a community to enable disease-centric data sharing with the NF Data Portal
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DOI：
10.1038/s41597-019-0317-x
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发表时间：
2019-12-13
期刊：
影响因子：
9.8
通讯作者：
Gosline, Sara J. C.
中科院分区：
文献类型：
--
作者：
Allaway, Robert J.;La Rosa, Salvatore;Gosline, Sara J. C.
罕见疾病社区面临的一个重大挑战是找到足够数量和种类的数据来开发和测试特定疾病的假设。在这里，我们描述了一种数据共享的方法，其中来自神经纤维瘤病（NF）研究社区的利益相关者合作开发了一个以疾病为中心的数据门户网站，其目标是支持社区内外的科学家以及临床医生和患者倡导者。
A significant challenge facing rare disease communities is finding a sufficient quantity and variety of data to develop and test disease-specific hypotheses. Here we describe an approach to data sharing in which stakeholders from the neurofibromatosis (NF) research community collaborated to develop a disease-focused data portal with the goal of supporting scientists within and outside the community as well as clinicians and patient advocates.