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Updated: Jan 11, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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稀有链接:基于REDCap的可扩展的罕见病互操作性框架,将国际注册表与FHIR和Phenopackets连接起来

Adam S L Graefe1,2, Filip Rehburg3, Samer Alkarkoukly4

  • 1Berlin Institute of Health at Charité‒Universitätsmedizin Berlin, Berlin, Germany. adam.graefe@charite.de.

NPJ genomic medicine
|November 18, 2025
PubMed
概括

RareLink是一个开源框架,通过从REDCap到全球卫生标准进行标准化数据交换来增强罕见疾病研究. 这促进了互操作性和用于罕见疾病研究的二次数据的使用.

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