【摘 要】
：
Rare disease registries represent a core element for effective rare disease translational research.Registries should have a wide geographical scope,focus on a d
【机 构】
：
CentreforComparativeGenomics,MurdochUniversity,Australia
【出 处】
：
The 2nd International Rare Diseases Research Consortium Conf
论文部分内容阅读
Rare disease registries represent a core element for effective rare disease translational research.Registries should have a wide geographical scope,focus on a disease or group of diseases,enable interoperability and share data elements.They are critical in order for IRDiRC to achieve one of its stated 2020 goals,namely,to establish and provide access to harmonized data and samples.However,the majority of registries are standalone systems,data element are not easily shared nor are there agreed standard descriptions for data elements.
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