The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future.

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future.
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DOI:
10.1038/gim.2013.72
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发表时间:
2013-10
期刊:
Genetics in medicine : official journal of the American College of Medical Genetics
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电子病历和基因组学网络是国家人类基因组研究所资助的财团,致力于开发使用电子病历作为基因组研究工具的方法和最佳实践。该网络现已进入第六年和第二个资助周期,由九个研究小组和一个协调中心组成,在验证电子病历中的临床数据可成功用于基因组研究这一概念方面发挥了重要作用。目前的工作正在推进基因组学和医疗保健信息学交叉领域的多个学科的知识,特别是电子表型、全基因组关联研究、基因组医学实施以及与基因组学研究相关的伦理和监管问题以及将结果返回给研究参与者。在这里,我们描述了该网络的演变、成就、机遇和挑战,从最初作为一个专注于基因组发现的基因型-表型关联的五组联盟,到目前作为一个致力于实施基因组医学的九组联盟的形式。基因医学 15 10, 761–771。
The Electronic Medical Records and Genomics Network is a National Human Genome Research Institute–funded consortium engaged in the development of methods and best practices for using the electronic medical record as a tool for genomic research. Now in its sixth year and second funding cycle, and comprising nine research groups and a coordinating center, the network has played a major role in validating the concept that clinical data derived from electronic medical records can be used successfully for genomic research. Current work is advancing knowledge in multiple disciplines at the intersection of genomics and health-care informatics, particularly for electronic phenotyping, genome-wide association studies, genomic medicine implementation, and the ethical and regulatory issues associated with genomics research and returning results to study participants. Here, we describe the evolution, accomplishments, opportunities, and challenges of the network from its inception as a five-group consortium focused on genotype–phenotype associations for genomic discovery to its current form as a nine-group consortium pivoting toward the implementation of genomic medicine. Genet Med 15 10, 761–771.
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