在国际平台上培训变种科学家
medRxiv : the preprint server for health sciences
|September 5, 2025
概括
国际研讨会有效地促进了临床基因组资源 (ClinGen) 变异治疗接口 (VCI) 的使用. 培训当地科学家促进了与ClinGen的持续合作
科学领域:
- 基因组医学
- 临床基因组学
- 生物信息学工具
背景情况:
- 临床基因组资源 (ClinGen) 旨在集中临床相关的遗传知识.
- 广泛采用ClinGen工具对于基因组医学的发展至关重要.
- 参与国际遗传学社区是资源传播的关键.
研究的目的:
- 评估ClinGen工具的持续使用,特别是变异化界面 (VCI).
- 评估国际培训研讨会在促进采用ClinGen工具方面的有效性.
- 分析与部署ClinGen VCI实例相关的组织方面和成本.
主要方法:
- 通过使用ClinGen变异治疗接口 (VCI) 与国际遗传学小组进行培训研讨会.
- 研讨会前和后进行问卷调查以评估参与者的知识和预期的工具使用情况.
- 分析了ClinGen工具使用数据,并评估了创建专用VCI实例的成本.
主要成果:
- 超过200名参与者参加了研讨会,
- 大约79%的参与者表示可能会在研讨会后使用VCI,尽管他们最初对变种分类不熟悉.
- 大约10%的参与者创建了永久VCI账户,估计每个VCI实例的成本为3美元.
结论:
- 国际研讨会在推动持续使用ClinGen的变种策划工具方面是有效的.
- 参与当地科学家对于成功的研讨会部署和工具采用至关重要.
- 未来的努力应考虑分层的用户群体和持续的当地参与,以获得最佳影响.
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