Innovation through collaboration at the intersection of childhood development and cancer: a platform for the Gabriella Miller Kids First Pediatric DataResource Center

项目概要：总体 儿童第一数据资源将汇总来自儿童癌症和结构性癌症的遗传和临床数据。 出生缺陷患者队列在一起，使研究人员可以挖掘数据，以发现全新的方式， 了解儿童癌症和结构性出生缺陷。有出生缺陷的儿童有更高的风险 也发展为儿童癌症，这表明在某些类型的癌症背后有共同的遗传途径。 儿童癌症和结构性出生缺陷。分析儿童的基因序列数据 癌症和结构性出生缺陷一起可能导致发现新的遗传途径， 如果仅使用儿童癌症数据进行分析，则会发现这些问题，反之亦然。 这些新途径可能有助于研究人员发现新的治疗方法。目前缺乏可用资源 对于研究人员来说，进行这种类型的双重分析可能会阻碍发现新的 儿童癌症和结构性出生缺陷的生物学贡献，从而减缓了新的 诊断、治疗和治愈。儿童第一数据资源将1）建立一个儿科癌症和出生 缺陷数据生态系统支持Gabriella米勒儿童第一儿科门户网站和授权使用 儿童第一数据队列2）与领先的NIH平台和相关门户网站集成， 研究人员进行这些类型的分析，并希望加快研究，以更有效地 预防和治疗。儿童第一数据资源将为研究提供许多有价值的服务 社区，例如： ·作为一个集中的数据库，将分散的数据源集中到一个位置。 将数据整合在一起增加了研究人员发现新遗传途径的能力 潜在的儿童癌症和结构性出生缺陷。这些新途径可能有助于研究人员 发现新的治疗方法 * 使研究人员在没有生物信息学的情况下能够方便地访问和查询不同的数据集 专业知识增加遗传学数据的效用，最大限度地发挥其潜力，为研究遗传学提供新的线索。 儿童癌症和结构性出生缺陷的原因。 * 提供分析工具，用于分析包含基因序列的大型复杂数据集， 临床数据。 ●儿童第一数据资源将广泛提供给整个生物医学领域的研究人员。 研究社区。Kids First将支持使用Kids First数据中的数据的项目 资源，要么揭示新的见解，生物学的儿童癌症和结构性出生缺陷 或者开发新的计算方法来分析遗传学数据。儿童第一数据资源 研究人员也可以在其他资金来源支持的研究中使用。 预计这将刺激研究，以更有效的预防和治疗各种疾病。 条件

Project Summary: Overall The Kids First Data Resource will aggregate genetic and clinical data from childhood cancer and structural birth defects patient cohorts together so that researchers can mine the data to uncover entirely new ways of understanding childhood cancer and structural birth defects. Children with birth defects are at a higher risk of also developing childhood cancer, suggesting that there are shared genetic pathways underlying some types of childhood cancer and structural birth defects. Analyzing genetic sequence data from children with childhood cancer and structural birth defects together may lead to the discovery of new genetic pathways that would not have been uncovered had the analysis only been performed using childhood cancer data alone, or vice versa. These new pathways may help researchers discover novel treatments. The current lack of available resources for researchers to perform these types of dual analyses are potentially impeding the ability to uncover new biological contributions to childhood cancer and structural birth defects, thus slowing the development of new diagnostics, treatments, and cures. The Kids First Data Resource will 1) establish a pediatric cancer and birth defects data ecosystem supporting the Gabriella Miller Kids First Pediatric Portal and the empowered use of the Kids First data cohorts 2) integrate with leading edge NIH platforms and associated portals to allow researchers to perform these types of analyses and hopefully accelerate research toward more effective preventions and therapies. The Kids First Data Resource will provide many valuable services to the research community, such as: ● Serve as a centralized database to assemble dispersed data sources together into one location. Integrating data together increases the power researchers have for detecting new genetic pathways underlying childhood cancer and structural birth defects. These new pathways may help researchers discover novel treatments. ● Provide easy access to and querying of disparate data sets by researchers without bioinformatics expertise. Increasing the utility of genetics data maximizes its potential to yield new clues into the causes of childhood cancer and structural birth defects. ● Provide analytical tools for analyzing large and complex data sets encompassing genetic sequence and clinical data. ● The Kids First Data Resource will be widely available to researchers across the entire biomedical research community. Kids First will support projects that use the data within the Kids First Data Resource to either uncover new insights into the biology of childhood cancer and structural birth defects or to develop new computational methods for analyzing genetics data. The Kids First Data Resource also will be available for researchers to use in their own studies supported by other funding sources. This is then expected to stimulate research toward more effective preventions and therapies for diverse conditions.