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基因组数据流框架的开发:对美国国立卫生研究院国家人类基因组研究所IGNITE和eMERGE联盟参与者进行的一项调查结果

Development of a Genomic Data Flow Framework: Results of a Survey Administered to NIH-NHGRI IGNITE and eMERGE Consortia Participants.

作者信息

Dexter Paul, Ong Henry, Elsey Amanda, Bell Gillian, Walton Nephi, Chung Wendy, Rasmussen Luke, Hicks Kevin, Owusu-Obeng Aniwaa, Scott Stuart, Ellis Steve, Peterson Josh

机构信息

Indiana University School of Medicine, Indianapolis, IN.

Regenstrief Institute, Inc., Indianapolis, IN.

出版信息

AMIA Annu Symp Proc. 2020 Mar 4;2019:363-370. eCollection 2019.

Abstract

Precision health's more individualized molecular approach will enrich our understanding of disease etiology and patient outcomes. Universal implementation of precision health will not be feasible, however, until there is much greater automation of processes related to genomic data transmission, transformation, and interpretation. In this paper, we describe a framework for genomic data flow developed by the Clinical Informatics Work Group of the NIH National Human Genome Research Institute (NHGRI) IGNITE Network consortium. We subsequently report the results of a genomic data flow survey administered to sites funded by NIH-NHGRI for large scale genomic medicine implementations. Finally, we discuss insights and challenges identified through these survey results as they relate to both the current and a desirable future state of genomic data flow.

摘要

精准医疗更具个性化的分子方法将丰富我们对疾病病因和患者预后的理解。然而,在与基因组数据传输、转化和解读相关的流程实现更高程度的自动化之前,全面实施精准医疗是不可行的。在本文中,我们描述了由美国国立卫生研究院(NIH)国家人类基因组研究所(NHGRI)IGNITE网络联盟的临床信息学工作组开发的基因组数据流框架。随后,我们报告了一项针对由NIH-NHGRI资助的大规模基因组医学实施项目站点进行的基因组数据流调查结果。最后,我们讨论通过这些调查结果所确定的见解和挑战,这些见解和挑战与基因组数据流的当前状态和理想的未来状态都相关。

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Understanding the Bioinformatics Challenges of Integrating Genomics into Healthcare.理解将基因组学整合到医疗保健中的生物信息学挑战。
IEEE J Biomed Health Inform. 2018 Sep;22(5):1672-1683. doi: 10.1109/JBHI.2017.2778263. Epub 2017 Nov 29.
2
Big Data Analytics for Genomic Medicine.基因组医学中的大数据分析
Int J Mol Sci. 2017 Feb 15;18(2):412. doi: 10.3390/ijms18020412.
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A review of bioinformatic pipeline frameworks.生物信息学流程框架综述。
Brief Bioinform. 2017 May 1;18(3):530-536. doi: 10.1093/bib/bbw020.
10
Supporting interoperability of genetic data with LOINC.支持基因数据与LOINC的互操作性。
J Am Med Inform Assoc. 2015 May;22(3):621-7. doi: 10.1093/jamia/ocu012. Epub 2015 Feb 5.

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