Research Project
9881387
PROJECT SUMMARY- UNIPROT SUPPORTING FUNCTIONAL GENOMICS AND RESEARCH COMMUNITY ENGAGEMENT FOR ALZHEIMER'S DISEASE- SUPPLEMENT REQUEST 2019 The mission of the Universal Protein Resource (UniProt) is to support biomedical research by providing a freely available, stable, comprehensive, richly and accurately annotated protein sequence knowledgebase. Currently, 5.7 million US citizens are living with the effects of Alzheimer?s Disease (AD), which is estimated to rise to 14 million by 2025. A National Plan has been implemented by the US aimed at preventing and effectively treating AD and related dementias by 2025. To support precision medicine based on genomic data, UniProt is tasked with providing a centralized resource that both links the genome to the functional proteins it encodes and also, efficiently identifies, captures and disseminates published information on protein function, facilitating computational analysis. Under an ongoing NIA supplement ?UniProt supporting an integrated multidisciplinary research agenda for Alzheimer's disease? we have engaged with the AD user community (geneticists, data science, proteomics, lab researchers) through workshop activities to identify gaps in the genomic to protein analysis and interpretation. An outcome from these activities was that in order to enable discoverability, improved access to the data and interoperability between UniProt and AD relevant genomic resources are needed. Thus, the overall goal of this supplement application is to support the AD research agenda through community outreach and training, and development of the UniProt Disease Portal. A workshop with AD variant data providers will foster data exchange and interoperability amongst the resources, while a hackathon will accelerate the development of tools needed for the disease portal. A follow up user workshop will focus on reviewing the training material developed, testing use cases and refining the disease portal for implementation. Through understanding AD researcher use cases we can refine our data, ontologies and data access via the web and APIs so as to improve discoverability for human disease research and better leverage investments of the NIH and NIA for future biomedical research and healthcare benefits.
