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

项目总结/文摘

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.