U24HG012542
Cooperative Agreement
Overview
Grant Description
Strengthening Community Knowledge Bases for Genetic Association Studies and Polygenic Scores, the GWAS and PGS Catalogs - Project Summary
The Genome Wide Association Studies (GWAS) Catalog's mission is to provide a comprehensive and complete resource of GWAS knowledge and to integrate the catalog with appropriate resources. This includes those that translate GWAS knowledge to improve human health and our understanding of human variation in the context of complex diseases and related traits.
Over the next five years, we will continue to provide the most complete, curated, standardized, and fair resource of GWAS data for an international user community of biomedical researchers from academic and pharmaceutical companies. Additionally, we will extend our resource activities to closely link the GWAS Catalog with a major cognate application, namely Polygenic Scores (PGS) and the Polygenic Score Catalog.
We will collaborate with journals, consortia, charities, and other funders to ensure that data is accessible, federating elements of the data where it cannot be shared due to ethical constraints. Our goal is to improve the data ingestion, curation, visualization, and API components to ensure scalability to increasing data and user volumes.
Automation of curation, user deposition, and literature extraction will be automated and enhanced, resulting in quality-controlled, harmonized, and fair knowledge for users. By integrating data flows with PGS and Mendelian Randomization (MR) resources, we will make the data and necessary metadata readily accessible for analysis by a wider group of users. This will also reduce redundancy in data flow and acquisition across resources, consolidating our resource as the world's primary GWAS knowledge base.
In Aim 1, we will deliver novel processes and support quality control for author deposition of significant SNP-trait associations. This will enable scaling and leveraging existing author relationships. Our work to acquire the community's invaluable GWAS summary statistics will continue, with a target of linking 75% of all studies to summary statistics. We will emphasize non-European ancestries and under-represented disease areas.
Aim 2 focuses on improvements for community uses of summary statistics by integrating data flows with PGS and MR resources. Aim 3 addresses performance improvements for the infrastructure, ensuring it is portable and modular and enabling sharing of quality control and harmonization processes. Aim 4 improves our graphical user interfaces, visualization, and data exploration tools and APIs. This will ensure they scale for unprecedented data volumes and are appropriate for evolving user needs.
Together, these aims will serve our growing user community to both enable and enhance the etiological understanding, prevention, and treatment of cardiovascular disease, diabetes, cancers, psychiatric disorders, and other complex diseases.
The Genome Wide Association Studies (GWAS) Catalog's mission is to provide a comprehensive and complete resource of GWAS knowledge and to integrate the catalog with appropriate resources. This includes those that translate GWAS knowledge to improve human health and our understanding of human variation in the context of complex diseases and related traits.
Over the next five years, we will continue to provide the most complete, curated, standardized, and fair resource of GWAS data for an international user community of biomedical researchers from academic and pharmaceutical companies. Additionally, we will extend our resource activities to closely link the GWAS Catalog with a major cognate application, namely Polygenic Scores (PGS) and the Polygenic Score Catalog.
We will collaborate with journals, consortia, charities, and other funders to ensure that data is accessible, federating elements of the data where it cannot be shared due to ethical constraints. Our goal is to improve the data ingestion, curation, visualization, and API components to ensure scalability to increasing data and user volumes.
Automation of curation, user deposition, and literature extraction will be automated and enhanced, resulting in quality-controlled, harmonized, and fair knowledge for users. By integrating data flows with PGS and Mendelian Randomization (MR) resources, we will make the data and necessary metadata readily accessible for analysis by a wider group of users. This will also reduce redundancy in data flow and acquisition across resources, consolidating our resource as the world's primary GWAS knowledge base.
In Aim 1, we will deliver novel processes and support quality control for author deposition of significant SNP-trait associations. This will enable scaling and leveraging existing author relationships. Our work to acquire the community's invaluable GWAS summary statistics will continue, with a target of linking 75% of all studies to summary statistics. We will emphasize non-European ancestries and under-represented disease areas.
Aim 2 focuses on improvements for community uses of summary statistics by integrating data flows with PGS and MR resources. Aim 3 addresses performance improvements for the infrastructure, ensuring it is portable and modular and enabling sharing of quality control and harmonization processes. Aim 4 improves our graphical user interfaces, visualization, and data exploration tools and APIs. This will ensure they scale for unprecedented data volumes and are appropriate for evolving user needs.
Together, these aims will serve our growing user community to both enable and enhance the etiological understanding, prevention, and treatment of cardiovascular disease, diabetes, cancers, psychiatric disorders, and other complex diseases.
Funding Goals
NOT APPLICABLE
Grant Program (CFDA)
Awarding / Funding Agency
Place of Performance
United Kingdom
Geographic Scope
Foreign
Related Opportunity
Analysis Notes
Amendment Since initial award the total obligations have increased 217% from $1,070,074 to $3,388,476.
European Molecular Biology Laboratory was awarded
Global GWAS and PGS Catalog: Enhancing Genetic Association Studies
Cooperative Agreement U24HG012542
worth $3,388,476
from National Human Genome Research Institute in September 2022 with work to be completed primarily in United Kingdom.
The grant
has a duration of 4 years 9 months and
was awarded through assistance program 93.172 Human Genome Research.
The Cooperative Agreement was awarded through grant opportunity Biomedical Knowledgebase (U24 - Clinical Trials Not Allowed).
Status
(Ongoing)
Last Modified 8/5/24
Period of Performance
9/20/22
Start Date
6/30/27
End Date
Funding Split
$3.4M
Federal Obligation
$0.0
Non-Federal Obligation
$3.4M
Total Obligated
Activity Timeline
Transaction History
Modifications to U24HG012542
Additional Detail
Award ID FAIN
U24HG012542
SAI Number
U24HG012542-465617013
Award ID URI
SAI UNAVAILABLE
Awardee Classifications
Non-Domestic (Non-U.S.) Entity
Awarding Office
75N400 NIH NATIONAL HUMAN GENOME RESEARCH INSTITUTE
Funding Office
75N400 NIH NATIONAL HUMAN GENOME RESEARCH INSTITUTE
Awardee UEI
KZD5S45YZ4A4
Awardee CAGE
DH518
Performance District
Not Applicable
Budget Funding
| Federal Account | Budget Subfunction | Object Class | Total | Percentage |
|---|---|---|---|---|
| National Human Genome Research Institute, National Institutes of Health, Health and Human Services (075-0891) | Health research and training | Grants, subsidies, and contributions (41.0) | $2,090,074 | 90% |
| National Cancer Institute, National Institutes of Health, Health and Human Services (075-0849) | Health research and training | Grants, subsidies, and contributions (41.0) | $240,000 | 10% |
Modified: 8/5/24