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 Kids First 数据资源将汇总儿童癌症和结构性疾病的遗传和临床数据 将出生缺陷患者集中在一起，以便研究人员可以挖掘数据来发现治疗出生缺陷的全新方法 了解儿童癌症和结构性出生缺陷。有先天缺陷的儿童面临更高的风险 也会患上儿童癌症，这表明某些类型的癌症具有共同的遗传途径 儿童癌症和结构性出生缺陷。分析童年时期儿童的基因序列数据 癌症和结构性出生缺陷一起可能会导致新的遗传途径的发现，而这些途径不会 如果仅使用儿童癌症数据进行分析，就会发现这一点，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 研究人员进行这些类型的双重分析可能会妨碍发现新的能力 对儿童癌症和结构性出生缺陷的生物学贡献，从而减缓了新疾病的发展 诊断、治疗和治愈。 Kids First 数据资源将 1) 建立儿科癌症和出生 缺陷数据生态系统支持 Gabriella Miller Kids First 儿科门户以及授权使用 Kids First 数据队列 2) 与领先的 NIH 平台和相关门户集成，以允许 研究人员进行这些类型的分析，并希望加速研究变得更有效 预防和治疗。 Kids First 数据资源将为研究提供许多有价值的服务 社区，例如： ● 充当集中式数据库，将分散的数据源汇集到一个位置。 将数据整合在一起可以增加研究人员检测新遗传途径的能力 潜在的儿童癌症和结构性出生缺陷。这些新途径可能会帮助研究人员 发现新的治疗方法。 ● 无需生物信息学即可让研究人员轻松访问和查询不同的数据集 专业知识。提高遗传学数据的实用性可以最大限度地发挥其产生新线索的潜力 儿童癌症和结构性出生缺陷的原因。 ● 提供分析工具，用于分析大型且复杂的数据集，包括基因序列和 临床数据。 ● Kids First 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 Data 中的数据的项目 揭示儿童癌症和结构性出生缺陷生物学新见解的资源 或开发新的计算方法来分析遗传学数据。儿童第一数据资源 也可供研究人员在其他资金来源支持下用于自己的研究。 预计这将刺激针对不同疾病的更有效预防和治疗的研究 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.