Expression quantitative trait locus analysis for translational medicine.
Expression quantitative trait locus analysis for translational medicine.
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DOI：
10.1186/s13073-015-0186-7
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发表时间：
2015
期刊：
影响因子：
12.3
通讯作者：
Marigorta UM
中科院分区：
文献类型：
--
作者：
Gibson G;Powell JE;Marigorta UM
表达数量性状基因座分析已成为了解遗传多态性如何影响疾病风险的重要组成部分，并有望为转化医学做出贡献。在这里，我们回顾了表达数量性状基因座分析是如何帮助确定哪些基因（S）的关联区域内的因果关系的疾病或表型性状;缩小的细胞类型或调节剂参与疾病的病因;表征的驱动程序和修饰剂的癌症;和我们的理解如何不同的环境和细胞环境可以修改基因表达。我们还介绍了转录风险评分的概念，作为一种手段，细化估计个人的疾病易感性的基础上有针对性的分析的转录本，共同与疾病和基因表达相关的多态性调控。
Expression quantitative trait locus analysis has emerged as an important component of efforts to understand how genetic polymorphisms influence disease risk and is poised to make contributions to translational medicine. Here we review how expression quantitative trait locus analysis is aiding the identification of which gene(s) within regions of association are causal for a disease or phenotypic trait; the narrowing down of the cell types or regulators involved in the etiology of disease; the characterization of drivers and modifiers of cancer; and our understanding of how different environments and cellular contexts can modify gene expression. We also introduce the concept of transcriptional risk scores as a means of refining estimates of individual liability to disease based on targeted profiling of the transcripts that are regulated by polymorphisms jointly associated with disease and gene expression.
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影响因子：
12.3
作者：
Auffray C;Chen Z;Hood L
通讯作者：
Hood L
影响因子：
3.7
作者：
Bushel, Pierre R.;McGovern, Ray;Lin, Xihong
通讯作者：
Lin, Xihong
DOI：
10.1126/science.1260793
发表时间：
2015-02-06
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Battle A;Khan Z;Wang SH;Mitrano A;Ford MJ;Pritchard JK;Gilad Y
通讯作者：
Gilad Y
影响因子：
7
作者：
Boyle AP;Hong EL;Hariharan M;Cheng Y;Schaub MA;Kasowski M;Karczewski KJ;Park J;Hitz BC;Weng S;Cherry JM;Snyder M
通讯作者：
Snyder M
影响因子：
30.8
作者：
Fairfax, Benjamin P.;Makino, Seiko;Radhakrishnan, Jayachandran;Plant, Katharine;Leslie, Stephen;Dilthey, Alexander;Ellis, Peter;Langford, Cordelia;Vannberg, Fredrik O.;Knight, Julian C.
通讯作者：
Knight, Julian C.