Suppr超能文献

基因型-组织表达 (GTEx) 项目:将临床数据与分子分析相结合,推进个体化医疗。

The Genotype-Tissue Expression (GTEx) Project: Linking Clinical Data with Molecular Analysis to Advance Personalized Medicine.

机构信息

Biorepositories and Biospecimen Research Branch, Division of Cancer Treatment and Diagnosis, National Cancer Institute, Bethesda, MD 20892, USA.

出版信息

J Pers Med. 2015 Feb 5;5(1):22-9. doi: 10.3390/jpm5010022.

Abstract

Evaluation of how genetic mutations or variability can directly affect phenotypic outcomes, the development of disease, or determination of a tailored treatment protocol is fundamental to advancing personalized medicine. To understand how a genotype affects gene expression and specific phenotypic traits, as well as the correlative and causative associations between such, the Genotype-Tissue Expression (GTEx) Project was initiated The GTEx collection of biospecimens and associated clinical data links extensive clinical data with genotype and gene expression data to provide a wealth of data and resources to study the underlying genetics of normal physiology. These data will help inform personalized medicine through the identification of normal variation that does not contribute to disease. Additionally, these data can lead to insights into how gene variation affects pharmacodynamics and individualized responses to therapy.

摘要

评估遗传突变或变异性如何直接影响表型结果、疾病的发展,或确定个性化的治疗方案,这对于推进个性化医学至关重要。为了了解基因型如何影响基因表达和特定的表型特征,以及这些因素之间的相关性和因果关系,启动了基因型-组织表达(GTEx)项目。GTEx 生物样本集和相关临床数据将广泛的临床数据与基因型和基因表达数据联系起来,为研究正常生理学的潜在遗传学提供了丰富的数据和资源。这些数据将通过识别不会导致疾病的正常变异来帮助实现个性化医疗。此外,这些数据还可以深入了解基因变异如何影响药效学和对治疗的个体化反应。

相似文献

7
Is personalized medicine a dream or a reality?个性化医学:是梦想还是现实?
Crit Rev Clin Lab Sci. 2015 Feb;52(1):1-11. doi: 10.3109/10408363.2014.950407. Epub 2014 Sep 2.
10
Imputing Gene Expression in Uncollected Tissues Within and Beyond GTEx.推断GTEx内部和外部未采集组织中的基因表达。
Am J Hum Genet. 2016 Apr 7;98(4):697-708. doi: 10.1016/j.ajhg.2016.02.020. Epub 2016 Mar 31.

引用本文的文献

7
TENT5A Increases Glioma Malignancy and Promotes its Progression.TENT5A增加胶质瘤恶性程度并促进其进展。
Recent Pat Anticancer Drug Discov. 2025;20(1):45-54. doi: 10.2174/0115748928280901231206102637.

本文引用的文献

2
Pharmacogenetics, pharmacogenomics, and individualized medicine.药物遗传学、药物基因组学与个体化医学。
Pharmacol Rev. 2011 Jun;63(2):437-59. doi: 10.1124/pr.110.003533. Epub 2011 Mar 24.
3
The path to personalized medicine.个性化医疗之路。
N Engl J Med. 2010 Jul 22;363(4):301-4. doi: 10.1056/NEJMp1006304. Epub 2010 Jun 15.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验