This Project Grant award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) aims to develop novel statistical models for multi-trait analysis in large-scale biobank datasets linked to electronic health records. The $122,234 award, effective from September 20, 2024 to August 31, 2026, will support research at Columbia University's Health Sciences Division to enhance disease association mapping and risk prediction accuracy. Specifically, the project will: 1)...
This $370,716 Project Grant award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) supports the development of an implementation guide to facilitate the integration of population-wide genomic screening (PGS) programs across diverse settings. The "Facilitating the Implementation of Population-Wide Genomic Screening Across Diverse Populations and Settings (FOCUS)" project aims to: Conduct a qualitative needs assessment of 10 existing PGS programs to...
The National Human Genome Research Institute (NHGRI) awarded a $1,033,069.24 Project Grant (CFDA 93.172 - Human Genome Research) to The Johns Hopkins University to develop novel statistical methods for data integration across disparate datasets in genetic and epidemiologic studies. The project aims to: Create a framework for building generalized linear models using detailed covariate data from a main study while incorporating summary statistics from an external study, with applications to...
This Cooperative Agreement award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) provides $1,310,799 to the University of California, San Diego (UCSD) to develop tools that leverage human reference pangenomes to improve the analysis of complex genetic traits. The key products and services to be delivered include: A web-based pangenome browser that integrates with existing biobank datasets based on linear genomes to enable exploration and visualization of...
This Project Grant awarded by the National Heart Lung and Blood Institute (CFDA 93.837 - Cardiovascular Diseases Research) provides $147,486 to Baylor College of Medicine to conduct research aimed at improving genetic testing for cardiovascular disease (CVD). The key objectives are to: Study the genetics of CVD and lipoprotein(a) (Lp(a)) across diverse and mixed-ancestry populations using novel tools that appropriately evaluate ancestry. This includes evaluating the role of linkage...
This Project Grant award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) supports research to integrate genetic and socio-environmental factors to predict disease progression. The $138,499 award to The General Hospital Corporation (doing business as Massachusetts General Hospital) aims to develop statistical models that leverage genetic, longitudinal healthcare, and socio-environmental data to enhance precision medicine for 16 exemplar disease...
This Project Grant award from the National Heart, Lung, and Blood Institute (CFDA 93.837 - Cardiovascular Diseases Research) provides $165,364 to The Broad Institute, Inc. to conduct research focused on integrating novel contextual and genomic blood pressure measures to enhance cardiovascular disease prediction and management in young adults aged 18-39 years. The key objectives of this 2-year project are to: 1) identify novel ambulatory blood pressure patterns that capture dynamic responses to...
This Project Grant award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) provides $716,587 to Boston Children's Hospital to advance equity in rare disease genomic research. The key objectives are to: Develop and implement a Diversity, Equity, and Inclusion toolkit within the Broad Institute's Rare Genomes Project to improve engagement and participation from historically underrepresented populations in rare disease genomic studies. This will involve...
This Project Grant award from the National Institute of General Medical Sciences (NIGMS) under the Biomedical Research and Research Training program (CFDA 93.859) provides $423,750.00 to New York University School of Medicine to conduct research on deconstructing the genetic basis of complex trait variation. The key objectives of the project are to: 1) understand which genes contribute most to complex traits, by integrating genome-wide association studies (GWAS) with population genetics...
This $400,000 Project Grant award from the National Human Genome Research Institute (NHGRI) under CFDA 93.172 "Human Genome Research" will support a research program at Brigham & Women's Hospital to develop advanced computational methods for accurately identifying and genotyping structural variants within large genetic biobank datasets. The key objectives of the work are to: 1) create haplotype-informed algorithms to improve detection sensitivity and genotyping accuracy for...
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, 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.