Leveraging the electronic health record to implement genomic medicine.
Leveraging the electronic health record to implement genomic medicine.
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DOI：
10.1038/gim.2012.131
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发表时间：
2013-04
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--
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评论：通过下一代测序鉴定的“可操作”变体在报告之前需要在正交平台上进行验证，这一点尚不清楚。下一代测序平台的进步可能会提高分析的有效性，从而消除对验证性测试的需求。Health Level Seven是在信息系统之间传输数据的标准，Health Level Seven组织发布了一份实施指南，概述了用于报告结构化基因检测结果的医疗保健数据标准。3基因组测序测试的监管指南可能有助于其在临床环境中的使用。一项早期任务将是制定指导方针，说明全基因组/外显子组测序和未来可能的重新分析如何以及在何种情况下得到补偿。
COMMENTARY“actionable” variants identified by next-generation sequencing would need validation on an orthogonal platform, before reporting, is unclear. It is possible that advances in next-generation sequencing platforms will improve analytic validity to the point of obviating need for confirmatory testing. Health Level Seven is a standard for transferring data between information systems, and the Health Level Seven organization has published an implementation guide outlining health-care data standards for reporting structured genetic test results. 3 Regulatory guidance for genome sequencing tests may facilitate its use in the clinical setting. An early task would be to develop guidelines for how and under what circumstances whole-genome/exome sequencing and potential future re-analyses would be reimbursed.
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影响因子：
5.3
作者：
Hoffman, Mark A.;Williams, Marc S.
通讯作者：
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影响因子：
8.8
作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
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DOI：
10.1136/jamia.2010.004366
发表时间：
2010-09-01
影响因子：
6.4
作者：
Kullo, Iftikhar J.;Fan, Jin;Chute, Christopher G.
通讯作者：
Chute, Christopher G.