Strengthening community knowledge bases for genetic association studies and polygenic scores, the gwas and PGS catalogs

Active Cooperative Agreement Awarded Last action

Award ID
U24HG012542
Recipient
Awarding agency
Obligated
$3,954,606

Award facts

Assistance listing
93.172 Human Genome Research
Completion date 86% complete
Place of performance
Great Britain, United Kingdom

Award details come from USAspending.gov.

Description

As the agency reported it.

Abstract
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, including those that translate GWAS knowledge to improve human health and improve our understanding of human variation in the context of complex disease and related traits. Over the next five years we will continue to provide the most complete, curated, standardised and fair resource of GWAS data for an international user community of biomedical researchers from academic and pharmaceutical companies. We will extend our resource activities to closely link the GWAS catalog with a major cognate application, that of polygenic scores (PGS) and the polygenic score catalog. We will continue to work 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. We will improve the data ingest, curation, visualisation and API components to ensure we scale to increasing data and user volumes. Automation of curation, user deposition and literature extraction will be automated and enhanced resulting in quality controlled, harmonised and fair knowledge for users. By integrating data flows with PGS and mendelian randomisation (MR) resources, we will make the data and necessary meta data readily accessible for analysis for a wider group of users and 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 QC for author deposition of significant SNP-trait associations enabling scaling and leveraging existing author relationships. Our work to acquire the community's invaluable GWAS summary statistics will continue, with a target of 75% of all studies linked to summary statistics, emphasising non-european ancestries and under-represented disease areas. Aim 2 provides improvements for community uses of summary statistics by integrating data flows with PGS and mendelian randomisation (MR) resources. Aim 3 addresses performance improvements for the infrastructure ensuring IT is portable and modular and enabling sharing of QC and harmonisation processes. Aim 4 improves our graphical user interfaces, visualisation and data exploration tools and apis, ensuring 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 aetiological understanding, prevention and treatment of cardiovascular disease, diabetes, cancers, psychiatric disorders and other complex diseases.

Transactions

Action Obligated Date
Amendment $171,190
Amendment $105,840
Amendment $0
Amendment $0
Amendment $0
Amendment $0
Amendment $0
Amendment $189,498
Amendment $189,498
Amendment $117,600
Amendment $117,600
Amendment $692,504
Amendment $940,802
Amendment $120,000
Amendment $1,070,074
Amendment $120,000
Original award $120,000
Show all 17

Subawards

Subrecipient Amount Awarded
The Chancellor, Masters, And Scholars Of The University Of Cambridge Workstream 1. Extend PGS community uses and support for new data types [refers to Aim 2 of RPPR] • Provide leadership and management for PGS publication… $29,609
The Chancellor, Masters, And Scholars Of The University Of Cambridge Workstream 1. Extend PGS community uses and support for new data types [refers to Aim 2 of RPPR] • Provide leadership and management for PGS publication… $159,889

Quick answers

Who received award U24HG012542?

U24HG012542 was awarded to European Molecular Biology Laboratory by National Human Genome Research Institute (National Institutes of Health) on September 20, 2022.

How much is award U24HG012542 worth?

$3,954,606 has been obligated on U24HG012542.

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