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Personal omics profiling reveals dynamic molecular and medical phenotypes

机译:个人组学分析揭示了动态的分子和医学表型

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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 2 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, revealed 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 diseased states by connecting genomic information with additional dynamic omics activity.
机译:有望通过多种高通量方法将基因组信息与定期监测生理状态相结合,从而受益于个性化医学。在这里,我们介绍了一个完整的个人组学概况(iPOP),该分析结合了一个人在14个月内的基因组,转录组学,蛋白质组学,代谢组学和自身抗体概况。我们的iPOP分析揭示了各种医疗风险,包括2型糖尿病。它还发现了跨越健康和疾病状态的各种分子成分和生物学途径的广泛动态变化。极高覆盖率的基因组和转录组数据提供了我们的iPOP的基础,揭示了健康和患病状态期间广泛的异源等位基因变化以及意外的RNA编辑机制。这项研究表明,通过将基因组信息与其他动态组学活动联系起来,纵向iPOP可以用于解释健康和疾病状态。

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