UNIPROT - ENHANCING FUNCTIONAL GENOMICS DATA ACCESS FOR THE ALZHEIMER?S DISEASE (AD) AND DEMENTIA-RELATED PROTEIN RESEARCH COMMUNITIES - SUPPLEMENT REQUEST 2020 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 (UniProtKB). 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. It also efficiently identifies, captures and disseminates published information on protein function, facilitating computational analysis. The goal of this supplement is to further enhance the usability and content of the AD pages in the prototypic Disease Portal, in response to feedback obtained at a series of NIA-funded AD workshops. We will enable users access to protein pages for genes associated with the disease that have been identified by several groups active in the field, and make these easily discoverable by use of additional disease ontologies. We will provide graphical views of protein expression data and links to data on orthologous genes/proteins in model organism species. We will use text mining to supplement the results of expert literature curation and determine ways in which the research community can directly contribute to UniProt records.

Public Health Relevance

UNIPROT - ENHANCING FUNCTIONAL GENOMICS DATA ACCESS FOR THE ALZHEIMER?S DISEASE (AD) AND DEMENTIA-RELATED PROTEIN RESEARCH COMMUNITIES - SUPPLEMENT REQUEST 2020 To further improve our services to the Alzheimer Disease (AD) research community, we will further refine the UniProt AD pages in the prototypic Disease Portal in response to feedback and input obtained at disease- centric user workshops. Information on protein expression levels and orthology data in key model organisms will be made available along with functional protein information on a per-residue basis with a score of variation consequence at each residue position. Relevant publications and annotations will be added to each appropriate entry using a combination of text mining methods and community expertise.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Resource-Related Research Projects--Cooperative Agreements (U24)
Project #
3U24HG007822-07S1
Application #
10121011
Study Section
Special Emphasis Panel (ZHG1)
Program Officer
Pillai, Ajay
Project Start
2014-09-18
Project End
2021-05-31
Budget Start
2020-07-01
Budget End
2021-05-31
Support Year
7
Fiscal Year
2020
Total Cost
Indirect Cost
Name
European Molecular Biology Laboratory
Department
Type
DUNS #
321691735
City
Heidelberg
State
Country
Germany
Zip Code
69117
Watkins, Xavier; Garcia, Leyla J; Pundir, Sangya et al. (2017) ProtVista: visualization of protein sequence annotations. Bioinformatics 33:2040-2041