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.

项目总结