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基因组学走向临床:从基础发现到临床影响。

Genomics reaches the clinic: from basic discoveries to clinical impact.

机构信息

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

出版信息

Cell. 2011 Sep 30;147(1):14-6. doi: 10.1016/j.cell.2011.09.012.

DOI:10.1016/j.cell.2011.09.012
PMID:21962499
Abstract

Today, more than ever, basic science research provides significant opportunities to advance our understanding about the genetic basis of human disease. Close interactions among laboratory, computational, and clinical research communities will be crucial to ensure that genomic discoveries advance medical science and, ultimately, improve human health.

摘要

如今,基础科学研究比以往任何时候都更提供了重要机会,可以增进我们对人类疾病遗传基础的理解。实验室、计算和临床研究界之间的密切互动对于确保基因组发现推动医学科学发展并最终改善人类健康至关重要。

相似文献

1
Genomics reaches the clinic: from basic discoveries to clinical impact.基因组学走向临床:从基础发现到临床影响。
Cell. 2011 Sep 30;147(1):14-6. doi: 10.1016/j.cell.2011.09.012.
2
Review article: genetic susceptibility and application of genetic testing in clinical management of inflammatory bowel disease.综述文章:炎症性肠病临床管理中的遗传易感性及基因检测的应用
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Eur J Immunol. 2009 Aug;39(8):2026-30. doi: 10.1002/eji.200939601.
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Genome-based prediction of common diseases: advances and prospects.基于基因组的常见疾病预测:进展与展望
Hum Mol Genet. 2008 Oct 15;17(R2):R166-73. doi: 10.1093/hmg/ddn250.
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Translating genomic biomarkers into clinically useful diagnostics.将基因组生物标志物转化为临床可用的诊断方法。
Expert Rev Mol Diagn. 2006 Mar;6(2):179-91. doi: 10.1586/14737159.6.2.179.
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Genomics shifts focus to rare diseases.基因组学将重点转向罕见病。
Nature. 2009 Sep 24;461(7263):458. doi: 10.1038/461458a.
7
Integrating medical and genomic data: a successful example for rare diseases.整合医学与基因组数据:罕见病的一个成功范例。
Stud Health Technol Inform. 2006;124:125-30.
8
Molecular discoveries alter our view of inflammatory bowel disease. A review from scientific, clinical, and laboratory perspectives.分子层面的发现改变了我们对炎症性肠病的看法。一篇从科学、临床和实验室角度进行的综述。
Am J Clin Pathol. 2003 Apr;119(4):524-39. doi: 10.1309/7W3E-TL9N-Q9RH-HX61.
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Genomics of cardiovascular disease.心血管疾病的基因组学
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Integrating genomics across drug discovery and development.整合基因组学贯穿药物发现与开发全过程。
Toxicol Lett. 2009 Apr 10;186(1):9-12. doi: 10.1016/j.toxlet.2008.09.011. Epub 2008 Sep 26.

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BMC Med Ethics. 2017 May 2;18(1):32. doi: 10.1186/s12910-017-0195-8.
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整合电子健康记录数据与基因组学用于心血管研究:美国心脏协会的科学咨询意见
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Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers.前瞻性临床药物遗传学实施:美国五个医疗中心的当前项目
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Clinical applications of age-related macular degeneration genetics.年龄相关性黄斑变性遗传学的临床应用
Cold Spring Harb Perspect Med. 2014 Aug 14;4(10):a017228. doi: 10.1101/cshperspect.a017228.
6
PG4KDS: a model for the clinical implementation of pre-emptive pharmacogenetics.PG4KDS:一种用于抢先式药物遗传学临床应用的模型。
Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):45-55. doi: 10.1002/ajmg.c.31391. Epub 2014 Mar 11.
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Prioritizing genomic applications for action by level of evidence: a horizon-scanning method.按证据水平优先考虑基因组应用的行动:一种 horizon-scanning 方法。
Clin Pharmacol Ther. 2014 Apr;95(4):394-402. doi: 10.1038/clpt.2013.226. Epub 2014 Feb 19.
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Genetics in population health science: strategies and opportunities.人群健康科学中的遗传学:策略与机遇。
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Bringing genome-wide association findings into clinical use.将全基因组关联研究结果应用于临床实践。
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The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future.电子病历与基因组学(eMERGE)网络:过去、现在和未来。
Genet Med. 2013 Oct;15(10):761-71. doi: 10.1038/gim.2013.72. Epub 2013 Jun 6.