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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.

DOI:10.1016/j.jaip.2022.04.016
PMID:35487368
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9624141/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1121/9624141/7adda77c5429/nihms-1842223-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1121/9624141/7adda77c5429/nihms-1842223-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1121/9624141/7adda77c5429/nihms-1842223-f0001.jpg

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本文引用的文献

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PLoS Comput Biol. 2022 Feb 22;18(2):e1009059. doi: 10.1371/journal.pcbi.1009059. eCollection 2022 Feb.
2
Janus kinase-targeting therapies in rheumatology: a mechanisms-based approach.风湿免疫领域的 Janus 激酶靶向治疗：一种基于机制的方法。
Nat Rev Rheumatol. 2022 Mar;18(3):133-145. doi: 10.1038/s41584-021-00726-8. Epub 2022 Jan 5.
3
Risk of bias in studies on prediction models developed using supervised machine learning techniques: systematic review.
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BMJ. 2021 Oct 20;375:n2281. doi: 10.1136/bmj.n2281.
4
An updated, computable MEDication-Indication resource for biomedical research.用于生物医学研究的更新的、可计算的 MEDication-Indication 资源。
Sci Rep. 2021 Sep 23;11(1):18953. doi: 10.1038/s41598-021-98579-4.
5
Association of KIR Genes and MHC Class I Ligands with Atopic Dermatitis.KIR 基因与 MHC Ⅰ类配体与特应性皮炎的关联。
J Immunol. 2021 Sep 15;207(6):1522-1529. doi: 10.4049/jimmunol.2100379. Epub 2021 Aug 18.
6
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Front Immunol. 2021 Jun 11;12:684326. doi: 10.3389/fimmu.2021.684326. eCollection 2021.
7
Immunopharmacogenomics: Mechanisms of HLA-Associated Drug Reactions.免疫药理学基因组学：HLA 相关药物反应的机制。
Clin Pharmacol Ther. 2021 Sep;110(3):607-615. doi: 10.1002/cpt.2343. Epub 2021 Jul 17.
8
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PLoS Genet. 2021 Jun 1;17(6):e1009593. doi: 10.1371/journal.pgen.1009593. eCollection 2021 Jun.
9
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