Department of Biomedical Informatics, Vanderbilt University, Nashville, TN 37203 USA.
Department of Biomedical Informatics, Vanderbilt University, Nashville, TN 37203 USA ; Department of Medicine, Vanderbilt University, Nashville, TN 37203 USA.
Genome Med. 2015 Apr 30;7(1):41. doi: 10.1186/s13073-015-0166-y. eCollection 2015.
The convergence of two rapidly developing technologies - high-throughput genotyping and electronic health records (EHRs) - gives scientists an unprecedented opportunity to utilize routine healthcare data to accelerate genomic discovery. Institutions and healthcare systems have been building EHR-linked DNA biobanks to enable such a vision. However, the precise extraction of detailed disease and drug-response phenotype information hidden in EHRs is not an easy task. EHR-based studies have successfully replicated known associations, made new discoveries for diseases and drug response traits, rapidly contributed cases and controls to large meta-analyses, and demonstrated the potential of EHRs for broad-based phenome-wide association studies. In this review, we summarize the advantages and challenges of repurposing EHR data for genetic research. We also highlight recent notable studies and novel approaches to provide an overview of advanced EHR-based phenotyping.
两种快速发展的技术——高通量基因分型和电子健康记录（EHR）的融合，为科学家们提供了一个前所未有的机会，利用常规医疗保健数据加速基因组学发现。各机构和医疗系统一直在建立 EHR 相关的 DNA 生物库，以实现这一愿景。然而，从 EHR 中精确提取隐藏的详细疾病和药物反应表型信息并非易事。基于 EHR 的研究已成功复制了已知的关联，为疾病和药物反应特征做出了新的发现，为大型荟萃分析迅速提供了病例和对照，并证明了 EHR 在广泛的表型全基因组关联研究中的潜力。在这篇综述中，我们总结了重新利用 EHR 数据进行遗传研究的优势和挑战。我们还强调了最近一些引人注目的研究和新颖的方法，以提供先进的基于 EHR 的表型分析概述。
