WashU-VAI Somatic Mosaicism across Human Tissues (SMaHT) Program Genome Characterization Center

WashU-VAI 人体组织体细胞嵌合 (SMaHT) 计划基因组表征中心

• 批准号: 10662065
• 负责人: Robert Scott Fulton
• 金额: $ 250万
• 依托单位: WASHINGTON UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-05-01 至 2028-04-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10662065
• 关键词: Affect; Autopsy; Bioinformatics; Biological; Biological Assay; Biological Process; Biology; Cataloging; Catalogs; Collaborations; Collection; DNA Transposable Elements; DNA sequencing; Data; Data Analyses; Disease; Elements; Genetic Transcription; Genome; Genome Data Analysis Network; Genomic DNA; Genomics; Goals; Health; Human; Information Systems; Longevity; Mediating; Modernization; Mosaicism; Nucleosomes; Phenotype; Production; Recommendation; Research; Sampling; System; Technology; The Cancer Genome Atlas; Time; Tissue Procurements; Tissues; Toxicant exposure; Variant; Work; bioinformatics tool; community engagement; computerized data processing; data infrastructure; data integration; data management; data quality; data visualization; design; epigenomics; experience; flexibility; genome resource; genomic data; genomic variation; human pangenome; human tissue; improved; member; programs; quality assurance; response; scientific computing; single cell sequencing; tool development; transcriptome sequencing; transposon/insertion element

PROJECT SUMMARY The Somatic Mosaicism across Human Tissues (SMaHT) Network aims to propel discovery of new biological processes in human health and disease that are mediated by genomic variation in somatic tissues. We propose to establish the WashU-VAI Somatic Mosaicism across Human Tissues (SMaHT) Program Genome Characterization Center (SMaHT-GCC). A fundamental goal of our proposed GCC is to generate high throughput, high quality, and high consistency genomic DNA and RNA sequencing data, ands to construct a comprehensive catalogue of the human somatic variation together with other members of the Network. First, we will establish and manage a collaborative, efficient, transparent, and flexible GCC as an integral component of the SMaHT Network. We will leverage our experience in participating and leading many past and current genomics consortia to design and implement our GCC. The GCC will manage center administration, maintain high quality, sustainable, and on-time data production, develop and implement data management plans, conduct data quality assurance and integrative data analysis, and fully engage with the entire SMaHT Network. Second, we will generate high quality, high throughput, comprehensive and sustainable genomics datasets for the characterization of human somatic mosaicism, using state-of-the-art technologies. We capitalize on our past experience in generating high quality sequencing-based genomic resources, to design and implement our data production plan. We recommend a collection of human tissue types, and will implement four core genomics assays to profile sample received from SMaHT Tissue Procurement Center. We aim to deliver high throughput, high quality, and high consistency genomic DNA and RNA sequencing data to the SMaHT Data Analysis Center. Third, we will develop and maintain a modern, efficient, scalable, and interactive data management and processing system that seamlessly interfaces with the SMaHT Data Analysis Center. We will leverage our experience in scientific computing, information technology system, large genomic data management and integration, and community engagement to design and implement our data management plan. We will build a streamlined, efficient data infrastructure to manage GCC data and collaborate with SMaHT DAC. Fourth, we will develop and implement data analysis and visualization solutions for the SMaHT-GCC data. We will leverage our extensive experience in genomic data analysis and integration, bioinformatics tool development as well as data visualization in the implementation of our data analysis and visualization plan. We will also bring in unique expertise in analyzing transposable elements and epigenomics data. We will contribute to the Network-wide data analysis, and facilitate the characterization of a full spectrum of the human somatic mosaicism.

项目摘要 人类组织（SMAHT）网络的躯体镶嵌量旨在推动新发现 人类健康和疾病的生物学过程是由体细胞组织基因组变异介导的。 我们建议建立跨人体组织（SMAHT）程序基因组的WASHU-VAI躯体镶嵌性 特征中心（SMAHT-GCC）。我们提出的海湾合作委员会的基本目标是产生高吞吐量， 高质量和高稠度基因组DNA和RNA测序数据，以及构建全面的 人类体细胞变异与网络的其他成员一起分类。首先，我们将建立 并管理协作，高效，透明且灵活的海湾合作of，作为SMAHT不可或缺的组成部分 网络。我们将利用我们的经验参与和领导许多过去和当前的基因组学联盟 设计和实施我们的海湾合作委员会。海湾合作委员会将管理中心管理，保持高质量， 可持续和准时数据生产，制定和实施数据管理计划，进行数据质量 保证和集成数据分析，并与整个SMAHT网络充分互动。第二，我们会的 生成高质量，高吞吐量，全面和可持续的基因组学数据集 使用最先进的技术对人类体细胞镶嵌的表征。我们利用过去 具有生成基于高质量测序的基因组资源，设计和实施我们的数据的经验 生产计划。我们建议一系列人类组织类型，并将实施四种核心基因组学 从SMAHT组织采购中心收到的对剖面样品的测定。我们旨在提供高吞吐量， 高质量，高质量的基因组DNA和RNA测序数据到SMAHT数据分析中心。 第三，我们将开发和维护现代，高效，可扩展和交互式数据管理，以及 与SMAHT数据分析中心无缝接口的处理系统。我们将利用我们的 有科学计算，信息技术系统，大型基因组数据管理和 集成以及社区参与，以设计和实施我们的数据管理计划。我们将建立一个 简化，有效的数据基础架构来管理海湾合作委员会数据并与SMAHT DAC合作。第四，我们会的 为SMAHT-GCC数据开发和实施数据分析和可视化解决方案。我们将利用我们的 在基因组数据分析和整合，生物信息学工具开发以及数据方面的丰富经验 在实施我们的数据分析和可视化计划中的可视化。我们还将带来独特的 分析可转座元素和表观基因组学数据方面的专业知识。我们将为网络范围的数据做出贡献 分析，并促进人类体细胞镶嵌的全光谱的表征。