U24HG011851

Reactome and the Gene Ontology: Digital Pathway Convergence for Core Data Resources - The Gene Ontology (GO) knowledgebase is the world’s largest source of information on the functions of genes, and is a foundation for computational analysis in biomedical research.

Reactome integrates information about the interconnected biological pathways that describe human biology at a molecular level. The proposed work will extend a collaboration between the GO and Reactome projects to better integrate content currently siloed in the two resources and several related reference resources to provide a more fully interoperable open access resource for the biomedical research community.

GO provides widely-used tools for associating an individual gene product with a cellular component of which it is a part, a molecular function it mediates, and a biological process in which it participates. Annotations of biological reactions in the Reactome knowledgebase integrate many such atomic GO assertions concerning gene products as they interact in biological processes, information of great potential value to researchers who use GO annotations, but hard to use because the two are formulated differently.

The recently developed GO Causal Activity Model (GO-CAM) formalism, which extends atomic GO annotation to capture and integrate entire biological processes, can form the basis of integration between GO and Reactome's pathway models, increasing their utility. We propose to develop an integrated pathway/ontology resource by developing tools to efficiently extract GO-CAM model content and further integrate GO-CAM / Reactome models with key reference resources such as Rhea (a database of expert-curated biochemical reactions) and the Protein Ontology (PRO), an ontological representation of protein-related entities.

Specifically, we will 1) generate GO-CAM models for every Reactome pathway that represents a normal human biological process; 2) coordinate curation and QA between Reactome and GO; 3) support data exchange among resources and cross-validate the mappings; and 4) extend this work to support efficient, partly automated creation of pathway resources for model organisms.

The end result will be an open-source, integrated set of tools and data that accurately represent human and model organism biological processes, supporting diverse data mining, analysis, and modeling activities. These tools and data will be incorporated into GO, Reactome, PRO, and participating model organism resources, supporting long-term alignment of key community resources after the completion of this project.

New York University

NHGRI SUPPORTS THE DEVELOPMENT OF RESOURCES AND TECHNOLOGIES THAT WILL ACCELERATE GENOME RESEARCH AND ITS APPLICATION TO HUMAN HEALTH AND GENOMIC MEDICINE. A CRITICAL PART OF THE NHGRI MISSION CONTINUES TO BE THE STUDY OF THE ETHICAL, LEGAL AND SOCIAL IMPLICATIONS (ELSI) OF GENOME RESEARCH. NHGRI ALSO SUPPORTS THE TRAINING AND CAREER DEVELOPMENT OF INVESTIGATORS AND THE DISSEMINATION OF GENOME INFORMATION TO THE PUBLIC AND TO HEALTH PROFESSIONALS. THE SMALL BUSINESS INNOVATION RESEARCH (SBIR) PROGRAM IS USED TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, TO INCREASE SMALL BUSINESS PARTICIPATION IN FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION. THE SMALL BUSINESS TECHNOLOGY TRANSFER (STTR) PROGRAM IS USED TO FOSTER SCIENTIFIC AND TECHNOLOGICAL INNOVATION THROUGH COOPERATIVE RESEARCH AND DEVELOPMENT CARRIED OUT BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO FOSTER TECHNOLOGY TRANSFER BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION.

93.172 - Human Genome Research

National Human Genome Research Institute (NHGRI) [HHS - NIH]

New York, New York 100169102 United States

Single Zip Code

Genomic Community Resources (U24 Clinical Trial Not Allowed) (PAR-20-100)

Amendment Since initial award the total obligations have increased 389% from $727,756 to $3,558,340.