U24HG012012

A Data and Administrative Coordinating Center for the Impact of Genomic Variation on Function Consortium - Project Summary/Abstract

The goals of the IGVF Data Administrative and Coordinating Center (DACC) are to support the IGVF Consortium by defining and establishing a strategy that connects all participants to the project's science. By creating avenues of access that distribute these data to the greater biological research community, the DACC provides a critical connection between scientific producers and consumers.

The IGVF Consortium brings together laboratories that generate complex data types via novel experimental assays, often focusing at the single-cell level of gene expression. This work is extended and regularized by laboratories that integrate these unique data using computational analyses to discover the associations and networks between human variation, chromosomal elements, and molecular phenotypes for the purpose of elucidating their complex relationship in human cells and tissues.

The DACC's participation enhances the data created by the Consortium through the creation of structured procedures for the verification and validation of all submitted data and providing processes for the documentation of metadata that describe each biological sample and assay method.

To facilitate access to all the data created, the DACC will construct a state-of-the-art data warehouse, design and develop robust software to enable data submission, and harden unified data processing pipelines. All experimental and computational results will be made available via the IGVF Portal, developed by the DACC. The Portal will integrate these data resources and provide enhanced search and browsing capabilities, along with powerful web services.

The DACC will develop tools for semantically-enhanced graph-based searches of experiment metadata, individual genomic elements, variation, and phenotype, and will implement methods to distribute these results in matrices suitable for machine learning.

Beyond computational infrastructure to house and distribute Consortium data, the DACC will also function as the administrative hub of the IGVF. Consortium science thrives on clear and forthright communication between its component parts, and it is the DACC's responsibility to manage this relationship. This effort will be facilitated by management of Consortium working groups, organization of scientific results and publications, and providing regular reporting and feedback to the Steering Committee.

To fully support the community, the DACC will act as a service organization, allowing biomedical research to take full advantage of the results from the IGVF. To this end, the DACC will organize and host Consortium-focused and user-focused meetings, and will provide documentation via many media including written documentation, video tutorials, webinars, and meeting presentations.

The various component projects of the IGVF (DACC, Mapping, Systematic Characterization, Genetic Network Regulation, Modeling of Genomic Variation Centers and Groups) will be tightly woven together to create the IGVF Consortium.

The Leland Stanford Junior 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]

Palo Alto, California 94304 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 598% from $2,739,389 to $19,133,500.