Bioinformatics Resource Core

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ABSTRACT With the availability of high-dimensional data, the bottleneck in clinical research has shifted from a paucity of biologic data to a paucity of high quality phenotypic data. The promise of personalized medicine can only be realized if investigators can study the data of millions of subjects in an integrated dataset containing accurate phenotypes. Several challenges exist before we can realize this goal. First, robust methods are needed to integrate different types of data in large populations of patients, including electronic medical record (EMR) data, patient reported outcomes measures, and genotypic data, into high dimensional datasets. Second, novel approaches are needed to accurately and efficiently identify patients with specific phenotypes of interest. Addressing these challenges will allow us to translate the information from high-dimensional datasets to discoveries that can improve patient care. The overarching goal of the VERITY Bioinformatics Resource Core is to support the VERITY Research Community to apply state-of-the art bioinformatics methods to enhance clinical research in pediatric and adult rheumatic and musculoskeletal (MSK) diseases. Powerful bioinformatics methods and tools now exist that can provide the infrastructure to standardize and organize complex data. Consequently, researchers can query across formerly disparate datasets to analyze and summarize data using new visualization techniques, removing many of the barriers for translational studies. While these platforms were initially designed for general population studies, we will harness these tools for rheumatic and MSK disease research. Drawing on experience using high dimensional data for research, the Core faculty and staff will provide support and guidance to the VERITY Research Community on the methods and tools to incorporate these approaches to advance clinical research studies through the following Specific Aims: Aim 1. To establish and customize a state-of-the-art bioinformatics platform to support rheumatic and MSK clinical data for sharing and collaborative research. Sub-aims include: to establish a published, open-source bioinformatics platform that standardizes and integrates diverse data types, and allows users to visualize and query the data in real time; and to forge partnerships between the rheumatic and MSK clinical research and bioinformatics communities through core consulting services. Aim 2. To provide and support a suite of bioinformatics tools with direct applications to clinical research studies. In sum, the VERITY Bioinformatics Core will establish a state-of-the-art bioinformatics platform for rheumatic and MSK disease clinical research, applying principles of open-source code and data visualization. The Core will extend our current work to the Research Community working in different locations on a wide range of NIAMS-mission driven conditions. Moreover, the research questions arising from VERITY will present new methodologic challenges, driving advancement of bioinformatics methods and fostering new collaborations.