Comparative Genomics and Bioinformatics Core

比较基因组学和生物信息学核心

• 批准号: 10474493
• 负责人: Laura A Cox
• 金额: $ 7.62万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-09-01 至 2022-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10474493
• 关键词: ATAC-seq; Affect; Agreement; Archives; Binding; Bioinformatics; Chromatin; Data; Databases; Deposition; Diagnosis; Diagnostic; Disease; Endometrial Stromal Cell; Endometrium; Ensure; Epithelial Cells; Foundations; Functional disorder; Genes; Genetic Transcription; Genomics; Goals; Human; Individual; Infertility; Laboratories; Lesion; Literature; Macaca mulatta; Marsupialia; Methodology; Modeling; Molecular; Molecular Analysis; Monkeys; Mus; Pathway Analysis; Pathway interactions; Peritoneal Fluid; Phase; Plasma; Practice Management; Process; Publishing; Research Personnel; Rhesus; Rodent; Role; SIRT1 gene; Sampling; Therapeutic; Tissue Sample; Tissues; United States National Institutes of Health; Woman; comparative genomics; data management; data sharing; data warehouse; endometriosis; epigenome; epigenomics; genetically modified cells; genome-wide; improved; innovation; metabolome; metabolomics; nonhuman primate; nuclease; phenotypic data; precision medicine; public database; success; tool; transcriptome; transcriptome sequencing; transcriptomics

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.

比较基因组学和生物信息学核心 总结/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 生物信息学分析和数据仓库，以支持P01的总体目标， 了解女性子宫内膜异位症的病理生理学，并为改善 治疗进化上保守的基因组特征告知功能的科学前提是很好的- 确立了习核心的一个创新方面是在人类、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途径， 子宫内膜异位症的病理生理学广发银行核心有4个具体目标，以支持P01的总体目标：1） 识别与女性疾病状态相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）整合， 项目中生成的代谢组数据，以优先考虑最有可能发生的途径和因果网络， 疾病状态的调控作用; 3）识别疾病相关基因，途径和因果网络， 三个物种之间的保守;和4）提供一个数据仓库，用于组织和共享生成的数据 在广发银行核心和项目中，并符合NIH数据共享要求。核心领导人考克斯博士 拥有广泛的比较基因组专业知识，包括有袋动物，啮齿动物，非人类的研究 灵长类动物和人类为核心小组提出的所有方法、分析工具和数据管理做法 在核心领导实验室中常规使用和完善，支持广发银行核心的成功， 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，并通过确定人类、小鼠和 恒河猴，将提名对疾病过程至关重要的监管机构。实现这些目标将有助于 更好地了解疾病过程，这将为长期的诊断和治疗提供信息， 改善子宫内膜异位症患者的生活。