TOPMed 10-Year Anniversary: Ongoing Success and Future Directions

The Trans-Omics in Precision Medicine (TOPMed) project of the National Heart, Lung, and Blood Institute (NHLBI) has supported genomic data generation and harmonization for many U.S. and international-based studies. These include deep whole-genome sequencing (WGS) data and omics datasets. TOPMed is one of the largest resources of WGS and omics (>180,000 WGS, >70,000 funded methylation, RNA-seq, and metabolomics assays, >40,000 proteomics). Importantly, the TOPMed program focuses on data collection from under-studied and under-represented populations such as Hispanic and Latino individuals in the U.S., African, and African American individuals. This session will highlight the 10th anniversary of the TOPMed program and focus on the future use of the TOPMed resource by the broader research community. The session will begin with an “overview of TOPMed” talk by Dr. Gan, the NHLBI program director who oversees TOPMed, describing the vision that motivated TOPMed, highlight major TOPMed milestones, and introduce the vision for the next step of TOPMed. Dr. Gan will also cover the current process for accessing TOPMed data and ideas to improve the process. Four talks will follow highlighting findings enabled by TOPMed: insights into genetic diversity, selection, and population dynamics from large scale sequencing, and findings from integration of omics and genetics. A panel discussion will introduce additional achievements, gaps, and outline to the community how they can use this massive resource.

Learning Objectives:
1. Describe inference and implications of genetic effects at the population levels from ultra-rare genetic variants
2. Identify mechanisms by which trans-eQTLs impact gene expression
3. Examine genetic influences on circulating metabolites with diverse populations via a novel, large multi-ancestry harmonized metabolomics data set
4. State new findings about how proteins causally affect other proteins in human plasma and use of genetic data to infer these relationships

Please note: This item is only available as part of the ASHG 2024 Annual Meeting Digital Pass.