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: 10884711
• 负责人: Robert Scott Fulton
• 金额: $ 15.47万
• 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/10884711
• 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, and 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.

项目概要 跨人体组织的体细胞镶嵌 (SMaHT) 网络旨在推动新发现 由体组织基因组变异介导的人类健康和疾病的生物过程。 我们建议建立 WashU-VAI 人体组织体细胞镶嵌 (SMaHT) 基因组计划 表征中心 (SMaHT-GCC)。我们提出的 GCC 的一个基本目标是产生高吞吐量， 高质量、高一致性的基因组DNA和RNA测序数据，构建全面的 与网络的其他成员一起编制人类体细胞变异的目录。首先，我们将建立 管理一个协作、高效、透明和灵活的 GCC，作为 SMaHT 的一个组成部分 网络。我们将利用我们参与和领导许多过去和现在的基因组学联盟的经验 设计和实施我们的 GCC。 GCC 将管理中心行政工作，保持高质量、 可持续、按时的数据生产，制定和实施数据管理计划，进行数据质量 保证和综合数据分析，并充分参与整个 SMaHT 网络。其次，我们将 生成高质量、高通量、全面且可持续的基因组学数据集 使用最先进的技术表征人类体细胞嵌合体。我们利用我们的过去 在生成基于测序的高质量基因组资源、设计和实施我们的数据方面拥有丰富的经验 生产计划。我们推荐一系列人体组织类型，并将实施四个核心基因组学 对从 SMaHT 组织采购中心收到的样本进行分析。我们的目标是提供高吞吐量、 向 SMaHT 数据分析中心提供高质量、高一致性的基因组 DNA 和 RNA 测序数据。 第三，我们将开发和维护现代化、高效、可扩展、交互式的数据管理和 与 SMaHT 数据分析中心无缝连接的处理系统。我们将利用我们的 在科学计算、信息技术系统、大型基因组数据管理和 集成和社区参与来设计和实施我们的数据管理计划。我们将建立一个 简化、高效的数据基础设施，用于管理 GCC 数据并与 SMaHT DAC 协作。第四，我们将 开发并实施 SMaHT-GCC 数据的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拥有丰富的经验 可视化在我们的数据分析和可视化计划的实施中。我们还将带来独特的 分析转座元件和表观基因组数据的专业知识。我们将为全网数据做出贡献 分析，并促进人类体细胞镶嵌的全谱表征。