Personal omics profiling reveals dynamic molecular and medical phenotypes.
Personal omics profiling reveals dynamic molecular and medical phenotypes.
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DOI：
10.1016/j.cell.2012.02.009
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发表时间：
2012-03-16
期刊：
影响因子：
64.5
通讯作者：
Snyder M
中科院分区：
文献类型：
--
作者：
Chen R;Mias GI;Li-Pook-Than J;Jiang L;Lam HY;Chen R;Miriami E;Karczewski KJ;Hariharan M;Dewey FE;Cheng Y;Clark MJ;Im H;Habegger L;Balasubramanian S;O'Huallachain M;Dudley JT;Hillenmeyer S;Haraksingh R;Sharon D;Euskirchen G;Lacroute P;Bettinger K;Boyle AP;Kasowski M;Grubert F;Seki S;Garcia M;Whirl-Carrillo M;Gallardo M;Blasco MA;Greenberg PL;Snyder P;Klein TE;Altman RB;Butte AJ;Ashley EA;Gerstein M;Nadeau KC;Tang H;Snyder M
个性化医疗有望从基因组信息与通过多种高通量方法定期监测生理状态相结合中受益。在这里，我们提出了一个综合的个人组学配置文件（iPOP），分析，结合基因组，转录组，蛋白质组，代谢组学和自身抗体配置文件从一个单一的个人在14个月的时间。iPOP分析揭示了各种医疗风险，包括II型糖尿病。它还揭示了健康和疾病条件下不同分子组分和生物途径的广泛，动态变化。极高覆盖率的基因组和转录组数据为我们的iPOP提供了基础，发现了健康和疾病状态下广泛的异等位基因变化以及意想不到的RNA编辑机制。这项研究表明，纵向iPOP可用于解释健康和疾病状态，通过连接基因组信息与额外的动态组学活动。
Personalized medicine is expected to benefit from combining genomic information with regular monitoring of physiological states by multiple high-throughput methods. Here we present an integrative Personal Omics Profile (iPOP), an analysis that combines genomic, transcriptomic, proteomic, metabolomic, and autoantibody profiles from a single individual over a 14-month period. Our iPOP analysis revealed various medical risks, including Type II diabetes. It also uncovered extensive, dynamic changes in diverse molecular components and biological pathways across healthy and diseased conditions. Extremely high coverage genomic and transcriptomic data, which provide the basis of our iPOP, discovered extensive heteroallelic changes during healthy and diseased states and an unexpected RNA editing mechanism. This study demonstrates that longitudinal iPOP can be used to interpret healthy and disease states by connecting genomic information with additional dynamic omics activity.
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DOI：
10.1126/science.1183621
发表时间：
2010-04-09
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Kasowski M;Grubert F;Heffelfinger C;Hariharan M;Asabere A;Waszak SM;Habegger L;Rozowsky J;Shi M;Urban AE;Hong MY;Karczewski KJ;Huber W;Weissman SM;Gerstein MB;Korbel JO;Snyder M
通讯作者：
Snyder M
影响因子：
7.4
作者：
Hindson, Benjamin J.;Ness, Kevin D.;Masquelier, Donald A.;Belgrader, Phillip;Heredia, Nicholas J.;Makarewicz, Anthony J.;Bright, Isaac J.;Lucero, Michael Y.;Hiddessen, Amy L.;Legler, Tina C.;Kitano, Tyler K.;Hodel, Michael R.;Petersen, Jonathan F.;Wyatt, Paul W.;Steenblock, Erin R.;Shah, Pallavi H.;Bousse, Luc J.;Troup, Camille B.;Mellen, Jeffrey C.;Wittmann, Dean K.;Erndt, Nicholas G.;Cauley, Thomas H.;Koehler, Ryan T.;So, Austin P.;Dube, Simant;Rose, Klint A.;Montesclaros, Luz;Wang, Shenglong;Stumbo, David P.;Hodges, Shawn P.;Romine, Steven;Milanovich, Fred P.;White, Helen E.;Regan, John F.;Karlin-Neumann, George A.;Hindson, Christopher M.;Saxonov, Serge;Colston, Bill W.
通讯作者：
Colston, Bill W.
影响因子：
168.9
作者：
Ashley, Euan A.;Butte, Atul J.;Wheeler, Matthew T.;Chen, Rong;Klein, Teri E.;Dewey, Frederick E.;Dudley, Joel T.;Ormond, Kelly E.;Pavlovic, Aleksandra;Morgan, Alexander A.;Pushkarev, Dmitry;Neff, Norma F.;Hudgins, Louanne;Gong, Li;Hodges, Laura M.;Berlin, Dorit S.;Thorn, Caroline F.;Sangkuhl, Katrin;Hebert, Joan M.;Woon, Mark;Sagreiya, Hersh;Whaley, Ryan;Knowles, Joshua W.;Chou, Michael F.;Thakuria, Joseph V.;Rosenbaum, Abraham M.;Zaranek, Alexander Wait;Church, George M.;Greely, Henry T.;Quake, Stephen R.;Altman, Russ B.
通讯作者：
Altman, Russ B.
影响因子：
6.4
作者：
Galeano, Federica;Leroy, Anne;Rossetti, Claudia;Gromova, Irina;Gautier, Philippe;Keegan, Liam P.;Massimi, Luca;Di Rocco, Concezio;O'Connell, Mary A.;Gallo, Angela
通讯作者：
Gallo, Angela
DOI：
10.1111/j.2517-6161.1995.tb02031.x
发表时间：
1995-01-01
影响因子：
5.8
作者：
BENJAMINI, Y;HOCHBERG, Y
通讯作者：
HOCHBERG, Y