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Updated: Jun 12, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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一个相互连接的数据基础设施,以支持大规模的罕见病研究.

Lennart F Johansson1, Steve Laurie2,3, Dylan Spalding4

  • 1Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands.

GigaScience
|September 20, 2024
PubMed
概括

"Solve-RD"项目开发了一个数据基础设施,通过分析各种患者数据来改善罕见疾病诊断. 这种协作平台使研究人员能够存储,连接和分析遗传和表型信息,提高诊断成功率.

关键词:
生物信息学是一种生物信息学.计算生物学是计算生物学.公平的数据 公平的数据遗传学 遗传学 遗传学 是一个基础设施基础设施基础设施的基础设施.罕见疾病是一种罕见的疾病.

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