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全外显子组测序:遗传学护理的下一阶段。

Whole Exome Sequencing: The Next Phase of Genetics Care.

作者信息

Mahon Suzanne M

机构信息

Department of Internal Medicine and in the School of Nursing at Saint Louis University in Missouri.

出版信息

Oncol Nurs Forum. 2016 Mar;43(2):249-52. doi: 10.1188/16.ONF.249-252.

Abstract

Exome sequencing is a technique for sequencing all of the genes that code for functioning proteins in the genome. It is now being used to identify mutations in families with suspected hereditary cancer syndromes where single-gene testing or testing for a panel of genes has not been able to detect a mutation. Oncology nurses need to anticipate that more patients and families will be undergoing this testing and be prepared to explain basic concepts about this new technology.

摘要

外显子组测序是一种对基因组中所有编码功能性蛋白质的基因进行测序的技术。目前,它正被用于在单基因检测或一组基因检测无法检测到突变的疑似遗传性癌症综合征家庭中识别突变。肿瘤学护士需要预计到会有更多患者和家庭接受这种检测,并准备好解释这项新技术的基本概念。

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