Accessible resource for integrated epigenomics studies (ARIES)

表观遗传学研究正在成为国际生物学研究的中心焦点。表观遗传谱可以作为暴露标志物和预后或预测生物标志物，白细胞甲基化目前是最常见的表观遗传修饰形式，在最容易获得的组织中，并且在许多研究中已经进行了表观遗传分析。关于这种分析模式，雅芳父母及其子女纵向研究（ALSPAC）提供了一个独特的潜在资源，具有两代数据和脐带血以及后来的外周血样本，允许宫内影响，代际传递，从出生到青春期前和青春期后年龄的甲基化变化，以及甲基化模式如何预测和随发育而变化的研究。这种甲基化数据将与ALSPAC中可用的广泛暴露、基因型和表型数据相关联。人类数据将与记录白细胞和其他组织甲基化与基因表达之间关系的啮齿动物数据以及与营养过剩、肥胖和衰老相关的啮齿动物模型组织库相结合。根据要求，将储存额外的啮齿动物组织用于未来分析。生成的数据将上传到专门为此举措开发的定制网络界面上浏览，该界面将允许整合来自人类和啮齿动物来源的多个来源的数据。用户将可以访问数据探索实用程序，图形基因组浏览器和数据关系的交互式图形视图。将这一具有强烈特征的人类队列中的表观遗传特征数据与啮齿动物表观遗传和转录组数据相结合，以产生可访问的资源，从而加强表观遗传学领域的研究，以造福于更广泛的科学界，这是一项相当大的生物信息学事业。我们将利用表观遗传学和基于人群的人类队列研究领域领先科学家的专业知识，生成相关数据，并将其与最新和高度熟练的生物信息学输入（由BBSRC先前的大量投资开发）相结合，以实现我们的既定目标。结合起来，拟议的生物数据生成与最先进的生物信息学工具的数据集成和访问，将提供一个明确的世界领先的资源表观遗传学研究。

Epigenetic studies are becoming a central focus of biological research internationally. Epigenetic profiles can serve as exposure markers and as prognostic or predictive biomarkers, with leukocyte methylation currently being the most commonly measured form of epigenetic modification, in the most readily obtainable tissue and one that has undergone epigenetic analysis in many investigations. In regard to this mode of analysis the Avon Longitudinal Study of Parents and their Children (ALSPAC) provides a unique potential resource, in having two-generational data and cord blood and later peripheral blood samples available, allowing for intrauterine influences, intergenerational transmission, change in methylation from birth through to pre-pubertal and post-pubertal age, and investigation of how methylation patterns predict and change with development. Such methylation data would be linked to the extensive exposure, genotype and phenotype data available in ALSPAC. The human data will be coupled with rodent data documenting the relationship between leukocyte and other tissue methylation and gene expression and rodent model tissue banks related to over-nutrition, obesity and ageing. Additional rodent tissues will be banked for future analysis upon request. Data generated will be uploaded for browsing on a custom web-based interface developed specifically for this initiative which will permit the integration of data from multiple sources from both human and rodent sources. The user will have access to data exploration utilities, a graphical genome browser and interactive graphical views of data relationships. The integration of data on epigenetic profiles in this intensively characterised human cohort with rodent epigenetic and transcriptomic data to generate an accessible resource to enhance research in the field of epigenetics for the benefit of the wider scientific community represents a considerable bioinformatic undertaking. We will draw on the expertise of leading scientists in the field of epigenetics and population-based human cohort studies to generate relevant data and combine this with up to date and highly skilled bioinformatics input (developed with substantive previous investment from the BBSRC) to meet our stated objectives. In combination, the proposed generation of biological data together with state of the art bioinformatic tools for data integration and access, would provide an unequivocally world-leading resource for epigenetic studies.