用于挖掘免疫介导表型并在电子健康记录中发现基因变异的新型分析方法（从表型到基因型的路线图：免疫基因组学）。
Novel Analysis Methods to Mine Immune-Mediated Phenotypes and Find Genetic Variation Within the Electronic Health Record (Roadmap for Phenotype to Genotype: Immunogenomics).
作者信息
Krantz Matthew S, Kerchberger V Eric, Wei Wei-Qi
机构信息
Division of Allergy, Pulmonary and Critical Care Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tenn.
Division of Allergy, Pulmonary and Critical Care Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tenn; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tenn.
出版信息
J Allergy Clin Immunol Pract. 2022 Jul;10(7):1757-1762. doi: 10.1016/j.jaip.2022.04.016. Epub 2022 Apr 26.
The field of immunogenomics has the opportunity for accelerated genetic discovery aided by the maturation of electronic health records (EHRs) linked to DNA biobanks. Novel analysis methods in deep phenotyping of EHR data allow the full realization of the paired and increasingly dense genetic/phenotypic information available. This enables researchers to uncover genetic risk factors for the prevention and optimal treatment of immune-mediated diseases and immune-mediated adverse drug reactions. This article reviews the background of EHRs linked to DNA biobanks, potential applications to immunogenomic discovery, and current and emerging techniques in EHR-based deep phenotyping.
免疫基因组学领域有机会借助与DNA生物样本库相关联的电子健康记录（EHR）的成熟实现加速基因发现。EHR数据深度表型分析中的新型分析方法能够充分利用现有的配对且日益密集的基因/表型信息。这使研究人员能够发现免疫介导疾病和免疫介导药物不良反应预防及最佳治疗的遗传风险因素。本文综述了与DNA生物样本库相关联的EHR的背景、在免疫基因组发现中的潜在应用以及基于EHR的深度表型分析中的现有技术和新兴技术。
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