Comparative Genomics and Bioinformatics Core

比较基因组学与生物信息学核心 摘要/摘要 比较基因组学和生物信息学(CGB)核心将提供最先进的比较基因组学 和生物信息学分析，以及数据仓库，以支持P01的总体目标，以改善我们的 了解女性子宫内膜异位症的病理生理，为提高认识和提高认识提供依据 治疗。进化上保守的基因组特征告知功能的科学前提是- 已经成立了。核心的一个创新方面是使用比较基因组学在人类、猴子和 小鼠，包括转录组学和表观基因组学，以确定进化上保守的核心途径 子宫内膜异位症病理生理学。CGB核心有4个具体目标，以支持P01：1的总体目标) 确定与妇女疾病状况有关的转录途径和网络(项目1和2)、小鼠 (项目2)和恒河猴(项目3)；2)将转录组数据与表观基因组(染色质)和 在项目中产生的代谢组数据，以确定路径和因果网络最可能具有的优先顺序 在疾病状态中的调节作用；3)确定与疾病相关的基因、途径和因果网络 在三个物种之间保存；以及4)提供数据仓库，用于组织和共享生成的数据 在CGB核心和项目中，并遵守NIH的数据共享要求。核心领导者考克斯博士 拥有广泛的比较基因组学专业知识，包括对有袋类动物、啮齿动物、非人类的研究 灵长类动物和人类。为核心提出的所有方法、分析工具和数据管理做法 在核心领导的实验室中经常使用和建立良好的基础，支持CGB核心的成功 实现这些目标。这些目标的成功完成将揭示分子途径和网络 与每个物种的疾病状态相关，并通过识别那些在人类、小鼠和 恒河猴，将提名对疾病过程至关重要的调节器。实现这些目标将有助于 更好地了解疾病的过程，这将为长期的诊断和治疗提供信息 改善患有子宫内膜异位症的妇女的生活。

Comparative Genomics And Bioinformatics Core SUMMARY/ABSTRACT The Comparative Genomics and Bioinformatics (CGB) Core will provide state-of-the-art comparative genomic and bioinformatic analyses, and data warehousing to support the overarching goal of the P01 to improve our understanding of endometriosis disease pathophysiology in women and provide a foundation for improving treatment. The scientific premise that evolutionarily conserved genomic features inform function is well- established. An innovative aspect of the Core is the use of comparative genomics in humans, monkeys and mice, including transcriptomics and epigenomics, to identify evolutionarily conserved pathways central to endometriosis pathophysiology. The CGB Core has 4 Specific Aims to support the overall goals of the P01: 1) Identify transcriptional pathways and networks associated with disease status in women (Projects 1&2), mice (Project 2), and rhesus macaques (Project 3); 2) Integrate transcriptome data with epigenome (chromatin) and metabolome data generated in the Projects to prioritize pathways and causal networks most likely to have regulatory roles in disease status; 3) Identify disease-associated genes, pathways, and causal networks that are conserved among the three species; and 4) Provide a data warehouse for organizing and sharing data generated in the CGB Core and the Projects, and comply with NIH data sharing requirements. The Core Leader Dr. Cox has extensive comparative genomic expertise that includes studies with marsupials, rodents, nonhuman primates, and humans. All methodologies, analysis tools, and data management practices proposed for the Core are routinely used and well-established in the Core Leader’s laboratory, supporting success of the CGB Core to achieve these aims. Successful completion of these aims will reveal molecular pathways and networks associated with disease status for each species and, by identifying those conserved among humans, mice and rhesus, will nominate regulators that are central to the disease process. Achieving these goals will contribute to a better understanding of the disease process which will inform diagnosis and treatment for long-lasting improvement in the lives of women suffering from endometriosis.