Genomic Resource Grant for the PhenX Toolkit - expansion and sustainability

PhenX 工具包的基因组资源资助 - 扩展和可持续性

• 批准号: 9277874
• 负责人: Carol Marie Hamilton
• 金额: $ 155万
• 依托单位: RESEARCH TRIANGLE INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-07-01 至 2022-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9277874
• 关键词: Address; Adolescent; Adoption; American; Awareness; Bioinformatics; Biomedical Research; Brain; Catalogs; Cloud Computing; Collaborations; Common Data Element; Communication; Communities; Consensus; Data; Data Collection; Development; Environment; Environmental Exposure; Funding; Genomics; Grant; Human Genetics; Individual; Institutes; Link; Logical Observation Identifiers Names and Codes; Malignant Neoplasms; Measures; Mental Health; Meta-Analysis; National Human Genome Research Institute; Ontology; Pediatrics; Phenotype; Precision Medicine Initiative; Public Health Schools; Reproducibility of Results; Research; Research Methodology; Research Personnel; Resources; Science; Scientist; Societies; Source; Standardization; Tobacco; Translational Research; United States National Institutes of Health; United States National Library of Medicine; Update; base; cognitive development; data sharing; database of Genotypes and Phenotypes; educational atmosphere; electronic data; flexibility; handheld mobile device; improved; instrument; multidisciplinary; next generation; novel; standard measure; symposium; tool; tool development; working group

PROJECT SUMMARY/ABSTRACT Twenty-first century biomedical science is a multidisciplinary, data-intensive global enterprise that depends critically on clear specification of research methods and results. The reproducibility of findings that is fundamental to good science and the meta-analysis of pooled data from disparate sources are both catalyzed by standardized approaches to acquiring and representing data. In this context, the PhenX (consensus measures for Phenotypes and eXposures) Toolkit is an increasingly valuable catalog of standard measures and associated bioinformatics tools that help investigators to improve the quality and consistency of their data collection and identify opportunities for collaborative research. Launched in 2009, PhenX Toolkit measures are being incorporated in several major studies and consortiums. The proposed 5- year research plan “Genomic Resource Grant for PhenX Toolkit – expansion and sustainability” expands the Toolkit’s scope and includes an updated interface and new ontology-based tools. The PhenX multidisciplinary team of researchers and developers, together with input from the scientific community, will increase the utility and impact of the PhenX Toolkit through the following Specific Aims. Specific Aim 1: Expand PhenX Toolkit research domains. Address the evolving needs of Toolkit users and the National Institutes of Health (NIH) by adding PhenX measures related to cancer, environmental exposures, pediatrics, and mental health. Specific Aim 2: Maintain and extend existing collaborations. Accelerate efforts with external collaborators and facilitate navigation between the Toolkit and complementary resources such as the Database of Genotypes and Phenotypes (dbGaP), Research Electronic Data Capture (REDCap), and the National Library of Medicine (NLM) Common Data Element (CDE) Resource and Logical Observation Identifiers Names and Codes (LOINC). Specific Aim 3: Raise awareness and increase impact. We propose a multifaceted educational component to raise awareness and increase use of PhenX measures and tools. Specific Aim 4: Link PhenX measures to established ontologies. The extended PhenX ontology (based on existing ontologies) will be implemented in a cloud computing environment in a way that will enable nimble navigation and the development of tools for users to link and harmonize variables across studies. Specific Aim 5: Provide new tools that investigators need. Develop a nimble and enriched interface that can traverse the increasing complexity of the Toolkit, support access by mobile devices, and leverage the PhenX ontology to develop novel tools for comparing measures and variables. Specific Aim 6: Project management and co- funded research. Enable effective communications and project management with a strong organization, assuring responsiveness, flexibility, and coordination of co-funding efforts. Through these aims, the PhenX Toolkit will support evolving research needs, help increase the impact of individual studies, facilitate translational research, and revolutionize data sharing and harmonization.

项目总结/文摘