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

项目摘要/摘要 PhenX工具包是一个标准测量和相关生物信息学工具的目录，可帮助 调查人员提高了数据收集的质量和一致性，并确定了 合作研究。PhenX工具包于2009年推出，现已扩展到基因组范围之外 常见、复杂疾病的关联研究，包括罕见的遗传疾病、药物滥用 和成瘾，精神健康，镰刀细胞疾病，和烟草监管研究。PhenX度量 已成为其他资源的组成部分，如研究电子数据捕获(RedCap)、 基因型和表型数据库(DBGaP)、逻辑观测标识名称和代码 (LOINC)和国家医学图书馆(NLM)公共数据元素(CDE)资源门户网站。PhenX 这些措施正在被纳入几项主要研究，并被用于包括 精准医学倡议，计划招募100万或更多志愿者；青少年大脑 认知发展研究，这是关于大脑发育和儿童健康的最大规模的长期研究 曾在美国推出；以及烟草管制科学中心。建议的5年 “PhenX工具包基因组资源资助--扩展和可持续性”研究计划的重点是 工具包的有限扩展，并向用户提供新的工具，用于比较措施和 相互关联的研究。我们将继续合作，促进工具包和 资源，如DBGaP、RedCap和NLm CDE资源门户和LOINC。我们还将发展 帮助现有用户使用新工具并介绍PhenX的培训模块和资源 工具包提供给下一代研究人员。PhenX多学科团队将确保PhenX 工具包通过以下具体目标继续满足科学界的需要。总括 具体目标1：扩大PhenX工具包研究领域：满足工具包用户和 美国国家卫生研究院通过增加与癌症、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 认识到互补的努力，并促进工具包和资源之间的导航，例如 DBGaP、RedCap、NLM CDE资源门户和LOINC。总的具体目标3：提高认识和 提高影响力：工具包用户和他们领导的研究将受益于PhenX的增加 措施。我们提出了一个多方面的教育组成部分，以提高人们的认识和增加对 PhenX措施和工具。总而言之，我们将增加工具包的广度和深度，以支持 不断变化的科学界需求，扩展成功的合作，进一步将PhenX与 现有资源，并利用教育环境促进使用并引入下一代 一代科学家来到了PhenX工具箱。

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.