Genomic Resource Grant for PhenX Toolkit - expansion and sustainability: Resource Project

项目总结/摘要 该PhenX工具包是一个标准的措施和相关的生物信息学工具，以帮助目录 调查人员提高数据收集的质量和一致性，并确定 合作研究。在2009年推出的PhenX工具包已经扩展到全基因组范围之外 常见、复杂疾病的关联研究，包括罕见遗传病、药物滥用 和成瘾、心理健康、镰状细胞病和烟草监管研究。PhenX措施 已成为其他资源的组成部分，如研究电子数据采集（REDCap）， 基因型和表型数据库（dbGaP），逻辑观察标识符名称和代码 （LOINC）和国家医学图书馆（NLM）公共数据元素（CDE）资源门户。PhenX 一些主要的研究正在采用这些措施， 精准医学计划，计划招募100万或更多志愿者;青少年大脑 认知发展研究，这是最大的长期研究大脑发育和儿童健康 以及烟草监管科学中心。拟议的五年 研究计划“PhenX工具包的基因组资源赠款-扩展和可持续性”的重点是 工具包的有限扩充以及向用户提供比较各项措施的新工具， 连接研究。我们将继续开展合作，促进工具包与 资源，如dbGaP、REDCap和NLM CDE资源门户和LOINC。我们还将开发 教育模块和资源，这将有助于现有用户的新工具，并介绍了PhenX 下一代研究人员的工具包。PhenX多学科团队将确保PhenX Toolkit通过以下具体目标继续满足科学界的需求。整体 具体目标1：扩大PhenX Toolkit研究领域：解决Toolkit用户不断变化的需求， 美国国立卫生研究院通过增加PhenX措施与癌症，环境暴露， 儿科和心理健康总体具体目标2：维持和扩大现有合作：提高 了解互补性工作，并促进工具包与资源之间的导航， dbGaP、REDCap、NLM CDE资源门户和LOINC。总体具体目标3：提高认识， 增加影响：工具包用户和他们领导的研究将受益于PhenX的吸收增加 措施我们提出了一个多方面的教育组成部分，以提高认识和增加使用 PhenX措施和工具。总之，我们将增加工具包的广度和深度， 科学界不断变化的需求，扩展成功的合作，进一步整合PhenX与 现有的资源，并利用教育环境，以促进使用和介绍下一个 PhenX工具包的一代科学家。

PROJECT SUMMARY/ABSTRACT The PhenX Toolkit is a catalog of standard measures and associated bioinformatics tools to help investigators improve the quality and consistency of data collection and identify opportunities for collaborative research. Launched in 2009, the PhenX Toolkit has expanded beyond genome-wide association studies of common, complex diseases to include Rare Genetic Conditions, Substance Abuse and Addiction, Mental Health, Sickle Cell Disease, and Tobacco Regulatory Research. PhenX measures have become integral to other resources such as Research Electronic Data Capture (REDCap), the database of Genotypes and Phenotypes (dbGaP), Logical Observation Identifiers Names and Codes (LOINC), and the National Library of Medicine (NLM) Common Data Element (CDE) Resource Portal. PhenX measures are being incorporated in several major studies and are being used in consortiums including the Precision Medicine Initiative, which plans to enroll 1 million or more volunteers; the Adolescent Brain Cognitive Development Study, which is the largest long-term study of brain development and child health ever launched in the United States; and the Tobacco Centers of Regulatory Science. The proposed 5-year research plan “Genomic Resource Grant for PhenX Toolkit – expansion and sustainability” focuses on limited expansion of the Toolkit and on providing users with new tools for comparing measures and connecting studies. We will continue collaborations that facilitate interactions between the Toolkit and resources such as dbGaP, REDCap, and the NLM CDE Resource Portal and LOINC. We will also develop educational modules and resources that will help existing users with the new tools and introduce the PhenX Toolkit to the next generation of researchers. The PhenX multidisciplinary team will ensure that the PhenX Toolkit continues to meet the needs of the scientific community through the following Specific Aims. Overall Specific Aim 1: Expand PhenX Toolkit research domains: Address the evolving needs of Toolkit users and the National Institutes of Health by adding PhenX measures related to cancer, environmental exposures, pediatrics, and mental health. Overall Specific Aim 2: Maintain and extend existing collaborations: Raise awareness of complementary efforts and facilitate navigation between the Toolkit and resources such as dbGaP, REDCap, the NLM CDE Resource Portal, and LOINC. Overall Specific Aim 3: Raise awareness and increase impact: Toolkit users and the studies they lead will benefit from increased uptake of PhenX measures. We propose a multifaceted educational component to raise awareness and increase use of PhenX measures and tools. In summary, we will increase the breadth and depth of the Toolkit to support the evolving needs of the scientific community, extend successful collaborations to further integrate PhenX with existing resources, and take advantage of educational environments to promote use and introduce the next generation of scientists to the PhenX Toolkit.