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本文引用的文献

1
A proposed clinical decision support architecture capable of supporting whole genome sequence information.一种能够支持全基因组序列信息的临床决策支持架构的提案。
J Pers Med. 2014 Apr 4;4(2):176-99. doi: 10.3390/jpm4020176.
2
The need for clinical decision support integrated with the electronic health record for the clinical application of whole genome sequencing information.需要将临床决策支持与电子健康记录集成,以将全基因组测序信息应用于临床。
J Pers Med. 2013 Dec 18;3(4):306-25. doi: 10.3390/jpm3040306.
3
Technical desiderata for the integration of genomic data with clinical decision support.将基因组数据与临床决策支持系统相整合的技术要求。
J Biomed Inform. 2014 Oct;51:3-7. doi: 10.1016/j.jbi.2014.05.014. Epub 2014 Jun 12.
4
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record.电子健康记录中全外显子组和全基因组临床报告的信息学方法调查。
Genet Med. 2013 Oct;15(10):824-32. doi: 10.1038/gim.2013.120. Epub 2013 Sep 26.
5
Opportunities for genomic clinical decision support interventions.基因组临床决策支持干预措施的机会。
Genet Med. 2013 Oct;15(10):817-23. doi: 10.1038/gim.2013.128. Epub 2013 Sep 19.
6
Towards precision medicine: advances in computational approaches for the analysis of human variants.迈向精准医学:人类变异分析的计算方法进展。
J Mol Biol. 2013 Nov 1;425(21):4047-63. doi: 10.1016/j.jmb.2013.08.008. Epub 2013 Aug 17.
7
Implementation of routine screening for Lynch syndrome in university and safety-net health system settings: successes and challenges.在大学和安全网卫生系统环境中实施林奇综合征常规筛查:成功与挑战。
Genet Med. 2013 Dec;15(12):925-32. doi: 10.1038/gim.2013.45. Epub 2013 Apr 18.
8
Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting.迈向通用临床基因组数据库:2012 年国际细胞遗传学芯片联盟会议。
Hum Mutat. 2013 Jun;34(6):915-9. doi: 10.1002/humu.22306. Epub 2013 Apr 2.
9
Clinical diagnosis by whole-genome sequencing of a prenatal sample.产前样本全基因组测序的临床诊断。
N Engl J Med. 2012 Dec 6;367(23):2226-32. doi: 10.1056/NEJMoa1208594.
10
Genenames.org: the HGNC resources in 2013.Genenames.org:2013 年的 HGNC 资源。
Nucleic Acids Res. 2013 Jan;41(Database issue):D545-52. doi: 10.1093/nar/gks1066. Epub 2012 Nov 17.

利用面向服务的架构对全基因组序列信息进行临床决策支持:一个原型。

Clinical decision support for whole genome sequence information leveraging a service-oriented architecture: a prototype.

作者信息

Welch Brandon M, Rodriguez-Loya Salvador, Eilbeck Karen, Kawamoto Kensaku

机构信息

Medical University of South Carolina, Charleston, SC ; University of Utah, Salt Lake City, UT.

University of Sussex, East Sussex, United Kingdom.

出版信息

AMIA Annu Symp Proc. 2014 Nov 14;2014:1188-97. eCollection 2014.

PMID:25954430
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4419907/
Abstract

Whole genome sequence (WGS) information could soon be routinely available to clinicians to support the personalized care of their patients. At such time, clinical decision support (CDS) integrated into the clinical workflow will likely be necessary to support genome-guided clinical care. Nevertheless, developing CDS capabilities for WGS information presents many unique challenges that need to be overcome for such approaches to be effective. In this manuscript, we describe the development of a prototype CDS system that is capable of providing genome-guided CDS at the point of care and within the clinical workflow. To demonstrate the functionality of this prototype, we implemented a clinical scenario of a hypothetical patient at high risk for Lynch Syndrome based on his genomic information. We demonstrate that this system can effectively use service-oriented architecture principles and standards-based components to deliver point of care CDS for WGS information in real-time.

摘要

全基因组序列(WGS)信息可能很快就能常规地提供给临床医生,以支持对患者的个性化护理。届时,整合到临床工作流程中的临床决策支持(CDS)可能对于支持基因组引导的临床护理是必要的。然而,为WGS信息开发CDS功能存在许多独特的挑战,要使这些方法有效就需要克服这些挑战。在本手稿中,我们描述了一个原型CDS系统的开发,该系统能够在护理点和临床工作流程中提供基因组引导的CDS。为了演示这个原型的功能,我们基于一名假设的林奇综合征高危患者的基因组信息实施了一个临床场景。我们证明,该系统可以有效地使用面向服务的架构原则和基于标准的组件,实时为WGS信息提供护理点CDS。