TOPMed — Trans-Omics for Precision Medicine
Overview
TOPMed is a National Heart, Lung, and Blood Institute (NHLBI) programme that adds whole genome sequencing to existing NHLBI-funded population and epidemiology studies. Several of its constituent studies include neurological phenotyping, such as brain MRI in the Framingham Heart Study, a long-running US cardiovascular cohort, making the resulting genomic data usable for research linking genetic variants to brain structure and neurological disease risk. Launched in 2014, the programme sequences samples in yearly phases. It then periodically reanalyses all samples together and releases the result as a new versioned dataset, so that genetic variants are called consistently across the whole collection. TOPMed complements the parallel NIH All of Us Research Program by adding genomic depth to studies that already exist, rather than building a new cohort of its own.
Scale (2026)
- Contributing NHLBI studies: 90+
- Investigators: 1,400+
- Working groups: 32
Data access
- Genotypes and phenotypes are released via dbGaP.
- Aligned sequence reads are archived in the Sequence Read Archive.
- Variant summary statistics are released via dbSNP and TOPMed’s own Bravo variant server.
Contributing studies
The more than 90 contributing studies include the Framingham Heart Study, the Cardiovascular Health Study, the Multi-Ethnic Study of Atherosclerosis, and the Hispanic Community Health Study/Study of Latinos. Each contributing study’s original phenotype data and the whole genome sequencing TOPMed generates from its samples are catalogued separately but linked within dbGaP.
Connections
- registeredIn: dbGaP
- relatedTo: SRA (aligned sequence reads from TOPMed studies are archived in NCBI SRA)
- relatedTo: dbSNP (variant summary information from TOPMed data freezes is released via dbSNP)
- relatedTo: All of Us Research Program (complementary NIH precision medicine genomic programmes)