Characterizing pediatric genomes through an optimized sequencing approach

通过优化的测序方法表征儿科基因组

• 批准号: 10707225
• 负责人: Jane Grimwood
• 金额: --
• 依托单位: HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY
• 依托单位国家: 美国
• 财政年份: 2016
• 资助国家: 美国
• 起止时间: 2016-09-23 至 2025-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10707225
• 关键词: Address; Adult; Affect; Amaze; Biological Assay; Biology; Cancer Patient; Child; Childhood; Chromatin; Clinical; Collaborations; Collection; Communities; DNA sequencing; Data; Data Analyses; Data Storage and Retrieval; Development; Disease; Emotional; Etiology; Event; Experimental Designs; Family member; Funding; Gene Expression Profiling; Gene Fusion; Genetic; Genome; Genomics; Goals; Healthcare; Individual; Infant Mortality; Institution; Investigation; Malignant Childhood Neoplasm; Malignant Neoplasms; Methodology; Methods; Methylation; Molecular; Molecular Analysis; Molecular Conformation; Mutation; Parents; Pathology; Pathway interactions; Pediatric Neoplasm; Pediatric Research; Physiological; Prevention; Process; Renaissance; Reporting; Research; Research Personnel; Resolution; Resources; Saint Jude Children' s Research Hospital; Sampling; Societies; Source; Technology; United States National Institutes of Health; Variant; Work; cancer genome; cohort; cost; data access; data integration; data resource; data submission; design; disability; exome; exome sequencing; experience; functional genomics; genome resource; genome sequencing; genome-wide; genome-wide analysis; genomic data; improved; innovation; leukemia; necrotic tissue; novel; prevent; proband; programs; public database; single cell analysis; success; therapeutic development; tool; transcriptome sequencing; tumor; tumor heterogeneity; whole genome

Project Summary/Abstract Expanding our understanding of the genetic contributions and etiologies of congenital disabilities and childhood cancer impacts those affected directly and contributes significantly to related research in adult conditions. This proposal builds on the established HudsonAlpha-St. Jude Genome Sequencing Center (HASJ-GSC) and expands its capabilities to interrogate and integrate data produced by an efficient and experienced genomics resource. The program aims to generate and analyze high-quality sequence and variant data from the most pediatric cancer and congenital disability cohorts possible with available funds over three years. We present here the innovation, capabilities, and experience of the HASJ-GSC to produce data for the Gabriella Miller Kids First Research Program that will be accessible and available to the research community and leveraged to its maximal impact for years to come. We also present a technology expansion and cost reduction plan that increases the number of cases sequenced and analyzed each year. The HASJ-GSC will generate exceptional quality whole-genome sequence and variant data for all samples. The pediatric cancer samples will also be analyzed with RNASeq and whole-exome sequencing. The combined genome, exome, and RNASeq will provide as much resolution as possible toward understanding the genetic and functional genomic changes observed in pediatric cancer. The HASJ-GSC will also support a comprehensive collection of additional methodologies such as long-read DNA and RNA sequencing, functional genomic analyses, and advanced data analysis. These technologies will expand the resolution and types of investigations provided to X01 investigators. The HASJ- GSC will also provide data storage with fast, reliable, and efficient data access, sharing, and reporting for the X01 project researchers. Finally, the HASJ-GSC will support efficient sequence and variant data submission to the Gabriella Miller Kids First Data Resource Center and facilitate submission to the appropriate public databases.

项目摘要/摘要 扩展我们对先天性残疾和童年的遗传贡献和病因的理解 癌症会影响直接影响的人，并在成人条件下对相关研究产生重大贡献。这 提案建立在既定的Hudsonalpha-st的基础上。裘德基因组测序中心（HASJ-GSC）和 扩大其功能，以询问和整合由有效且经验丰富的基因组学产生的数据 资源。该计划旨在从最多生成和分析高质量的序列和变体数据 小儿癌和先天性残疾人群可能会在三年内与可用资金。我们在场 在这里，Hasj-GSC的创新，能力和经验为Gabriella Miller Kids生成数据 第一个研究计划，可以访问并可用于研究社区并利用其 未来几年的最大影响。我们还提出了一项技术扩展和降低成本计划 每年增加测序和分析的病例数。 hasj-gsc将产生异常 所有样品的质量全基因组序列和变体数据。小儿癌样本也将是 用RNASEQ和全外观测序分析。组合的基因组，外显组和RNASEQ将提供 尽可能多的解决方案来理解在 小儿癌。 HASJ-GSC还将支持诸如此类其他方法的全面集合 作为长阅读的DNA和RNA测序，功能基因组分析和高级数据分析。这些 技术将扩大提供给X01研究人员的调查的分辨率和类型。 hasj- GSC还将为数据存储提供快速，可靠和有效的数据访问，共享和报告 X01项目研究人员。最后，HASJ-GSC将支持有效的序列和变体数据提交到 Gabriella Miller Kids第一个数据资源中心，并促进向适当的公众提交 数据库。