Projects TOPMed

First major whole-genome sequencing data freeze (Freeze 5) covering ~14k genomes from diverse ancestral populations including African American, Hispanic/Latino, Asian, and European individuals. Established the TOPMed variant discovery and quality control pipeline.

Freeze 8 expanded WGS to ~62k participants, substantially increasing representation of African American, Hispanic/Latino, Asian, and other ancestries. Enabled deep variant discovery with >400M variants including many rare and population-specific alleles. Became the gold-standard imputation reference panel for multi-ethnic studies.

Continued expansion of TOPMed WGS to over 100k participants across >50 NHLBI cohort studies. Integration of whole-genome sequencing with epigenomics, transcriptomics, proteomics, and metabolomics data. Open access to sequencing data and variant annotations through the BRAVEO browser and dbGaP, serving as a critical resource for the global genetics community.

Series of landmark papers from TOPMed studies spanning blood pressure, lipid, pulmonary function, and glycemic trait GWAS leveraging the unique WGS data for rare variant association testing. Demonstrated value of deep WGS in diverse populations for fine-mapping and identifying causal variants. Multi-ancestry meta-analyses improved fine-mapping resolution at loci with divergent LD patterns.

Trans-Omics for Precision Medicine (TOPMed) program launched by the NHLBI as part of the Precision Medicine Initiative. Designed to generate whole-genome sequencing data from diverse populations across NHLBI-funded cohort studies, integrating multi-omics data with detailed phenotypes to study heart, lung, blood, and sleep disorders.