Characterizing pediatric genomes through an optimized sequencing approach

通过优化的测序方法表征儿科基因组

基本信息

批准号：
10260464
负责人：
Shawn Edward Levy
金额：
$ 688.34万
依托单位：
HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY
依托单位国家：
美国
项目类别：
财政年份：
2016
资助国家：
美国
起止时间：
2016-09-23 至 2022-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10260464
关键词：
Achievement Address Adult Affect Biological Assay Child Childhood Clinical Collaborations Collection Communicable Diseases Communities Congenital Abnormality Data Data Storage and Retrieval Databases Disease Emotional Etiology Event Family member Funding Gene Expression Profiling Gene Fusion Genetic Genome Genomics Goals Healthcare Heart Abnormalities Infant Mortality Investigation Link Malignant Childhood Neoplasm Malignant Neoplasms Methodology Minority Molecular Molecular Analysis Mutation Operative Surgical Procedures Parents Pathway interactions Pediatric Neoplasm Pediatric Research Pertussis Phenotype Physiological Poliomyelitis Prevention Process RNA Reporting Research Research Personnel Research Proposals Resolution Resources Saint Jude Children&apos s Research Hospital Sampling Sequence Analysis Societies Structural Congenital Anomalies Technology United States National Institutes of Health Vaccination Variant Work cancer genome cohort cost data access data resource design exome exome sequencing experience functional genomics genome sequencing genome-wide genome-wide analysis genomic data genomic tools improved innovation leukemia prevent proband programs therapeutic development tool transcriptome sequencing tumor tumor heterogeneity whole genome

项目摘要

! PROJECT SUMMARY/ABSTRACT Expanding our understanding of the genetic contributions and etiologies of birth defects and childhood cancer will have a significant and direct impact on those affected by those conditions and contribute significantly to research in related adult conditions. This proposal continues the HudsonAlpha-St. Jude Genome Sequencing Center (HASJ-GSC) and expands its capabilities. The HASJ-GSC will provide an efficient and experienced genomics resource to generate and analyze high-quality sequence and variant data from the largest number of pediatric cancer and birth defect cohorts possible using the funds available over a three-year period. The innovation, capabilities, and experience of the HASJ-GSC will 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. A robust cost reduction plan allows for an increase in the number of cases that can be sequenced and analyzed per dollar per year. The HASJ-GSC will generate exceptional quality whole-genome sequence and variant data for all samples and for the pediatric cancer samples, RNASeq and whole-exome data. The combined genome, exome and RNASeq will provide as much resolution as possible to understand the genetic and functional genomic changes observed in pediatric cancer. The HASJ-GSC will also provide support for a comprehensive collection of additional methodologies such as long read, lined-long read and RNAseq. These will expand the resolution and type of investigation that can be supported for X01 investigators. The HASJ-GSC will also provide a reliable and efficient data storage and data access capability that provides fast, reliable and efficient data access, sharing and reporting for the X01 projects and samples. Finally, the HASJ-GSC will support efficient submission of sequence and variant data to the Gabriella Miller Kids First Data Resource Center and help facilitate submission to the appropriate public databases. !

！项目概要/摘要扩大我们对出生缺陷和儿童癌症的遗传贡献和病因的理解将对那些受这些情况影响的人产生重大而直接的影响，并为相关成人状况的研究。该提案延续了 HudsonAlpha-St。裘德基因组测序中心 (HASJ-GSC) 并扩展其能力。 HASJ-GSC 将提供高效且经验丰富的基因组学资源，用于生成和分析来自最大数量的高质量序列和变异数据利用三年内可用的资金，可以开展儿科癌症和出生缺陷队列研究。这 HASJ-GSC 的创新、能力和经验将为 Gabriella Miller Kids First 生成数据研究计划将可供研究界使用并利用未来几年影响最大。强有力的成本削减计划可以增加案件数量每年可以对每一美元进行排序和分析。 HASJ-GSC 将产生卓越的品质所有样本和儿科癌症样本的全基因组序列和变异数据、RNASeq 和全外显子组数据。组合的基因组、外显子组和 RNASeq 将提供尽可能多的分辨率了解在儿科癌症中观察到的遗传和功能基因组变化。 HASJ-GSC 还将为全面的附加方法提供支持，例如长读、行长读和 RNA 测序。这些将扩大 X01 可支持的分辨率和调查类型调查人员。 HASJ-GSC还将提供可靠、高效的数据存储和数据访问能力为 X01 项目和样本提供快速、可靠和高效的数据访问、共享和报告。最后，HASJ-GSC 将支持向 Gabriella Miller 高效提交序列和变异数据 Kids First 数据资源中心并帮助促进向适当的公共数据库的提交。！