A one-page summary report of genome sequencing for the healthy adult.

A one-page summary report of genome sequencing for the healthy adult.
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DOI:
10.1159/000370102
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发表时间:
2015
影响因子:
1.7
通讯作者:
Green RC
Green RC
中科院分区:
医学4区
文献类型:
--
作者:
Vassy JL;McLaughlin HM;MacRae CA;Seidman CE;Lautenbach D;Krier JB;Lane WJ;Kohane IS;Murray MF;McGuire AL;Rehm HL;Green RC

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随着基因组测序技术越来越多地进入医疗实践,遗传学实验室必须有效地将测序结果传达给非遗传学医生。我们描述了临床基因组测序报告的设计和交付,包括适合初级保健医生解释的一页摘要。为了说明我们的初步经验与本报告,我们总结了基因组研究的结果,从10个健康的患者参与者的基因组测序在初级保健。
As genome sequencing technologies increasingly enter medical practice, genetics laboratories must communicate sequencing results effectively to non-geneticist physicians. We describe the design and delivery of a clinical genome sequencing report, including a one-page summary suitable for interpretation by primary care physicians. To illustrate our preliminary experience with this report, we summarize the genomic findings from ten healthy patient participants in a study of genome sequencing in primary care.
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