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.

译文

电子病历和基因组学网络是由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。现在已经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,该网络在验证从电子病历中得出的临床数据可以成功用于基因组研究的概念方面发挥了重要作用。当前的工作是在基因组学和医疗保健信息学的交叉点上提高多个学科的知识,尤其是电子表型,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,并将结果返回给研究参与者。在这里,我们描述了网络的发展,成就,机遇和挑战,从其成立为五组联盟,专注于基因组发现的基因型-表型关联,到目前的形式为九组联盟,转向实施基因组医学。

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