U24HG012070

WashU-Northwestern Genomic Variation and Function Data and Administrative Coordinating Center - Project Summary

The goals of the WashU-Northwestern Genomic Variation and Function Data and Administrative Coordinating Center (IGVF-DACC) component of the IGVF Consortium are to collect, store, curate, and display all data, metadata, and analysis tools generated by the IGVF Consortium.

The DACC will assist in developing and disseminating metadata and standards to be adopted by the community at large, approaches for integrative analysis of a wide range of data types, and visualization and analysis tools to facilitate access and understanding of complex datasets to non-expert users. Ultimately, the IGVF Consortium will produce tools, analyses, models, and data that form the catalog of variants and their functional impact.

We will develop the DACC into a substantial service organization allowing scientific research to take full advantage of the IGVF reference catalog or map. To support the IGVF Consortium, we will establish databases with an application framework to facilitate complex data loading. We will include detailed experimental descriptions and metadata. We will define and develop pipelines that connect all consortium members to the data and create avenues of access that distribute the data to the greater biological research community.

We will establish metadata requirements, controlled vocabularies, standardized data formats, and quality control metrics for all IGVF data. We will bring together laboratories that generate complex data types via experimental assays with laboratories that integrate these data using computational tools to define the effects of genomic variation on genome function and how these effects shape phenotypes.

By creating structures and data flow pipelines for the verification and validation of all data and providing processes for the documentation of metadata, the DACC will enhance the IGVF data production. The DACC will also coordinate integrative data analysis by creating and adapting analysis pipelines and developing advanced genome browser functions for the visual integration of IGVF data.

Also, we will make the IGVF web portal that will be the primary entry point to the wealth of experimental data and computational analyses. The portal will integrate these data resources and make them available via enhanced search and browsing capabilities.

Finally, the DACC will provide documentation, training, and outreach via many media, including written documentation, video tutorials, online books, webinars, and meeting workshops and presentations.

Washington 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]

Saint Louis, Missouri 631101010 United States

Single Zip Code

Genomic Variation and Function Data and Administrative Coordinating Center (U24 Clinical Trial Not Allowed) (RFA-HG-20-046)

Amendment Since initial award the total obligations have increased 709% from $1,010,610 to $8,173,509.