Project Summary/Abstract This application is being submitted in response to the Notice of Special Interest (NOSI) identified as “NOT-HG-23-023”. The goal of this project is to support and maintain a critical resource for the creation of the IGVF Catalog, the ENCODE Portal, an online resource providing all data created by the ENCODE Consortium. The Catalog will incorporate results from IGVF experimental investigation, and computational analyses using a wealth of information on genomic variants impact on function. The previously created and publicly released experimental and computational results are unique data used 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. These data are critical reagents for computational biologist and the greater biomedical research community exploring the human genome, its regulation, association with disease, and structure. The ENCODE Portal serves as the primary data warehouse for ENCODE data and is a state-of-the-art data warehouse, designed and developed by Stanford. We have cross-cutting and unparalleled technical expertise in data management, genomics, informatics, network analysis, and privacy-preserving applications as well as our roles leading large data coordination centers, managing, and coordinating data and metadata, as well as creating gold standard knowledgebases.

Relevance to Public Health, Project Narrative Through this project we will support and maintain an essential resource for the creation of the IGVF Catalog. The Catalog will incorporate results from IGVF experimental investigation, and computational analyses using a wealth of information on genomic variants impact on function. One of the essential data sources of these analyses is the collected knowledge of the ENCODE Consortium provided via the ENCODE Portal that serves as the primary data warehouse for ENCODE data.