TOPMed

TOPMed, short for Trans-Omics for Precision Medicine, is an NIH initiative led by the National Heart, Lung, and Blood Institute (NHLBI) established to accelerate precision medicine by generating large-scale deep-phenotype and whole-genome sequencing data. It brings together researchers to study how genetic variation interacts with other biological layers to influence health and disease.

The program collects whole-genome sequencing data along with multi-omics measures (transcriptomics, epigenomics, metabolomics) and rich phenotypic data, across diverse participant cohorts. The aim is to create a comprehensive, ancestrally diverse resource that supports discovery of genetic and molecular mechanisms underlying cardiovascular, metabolic, pulmonary, and other diseases.

TOPMed produces high-depth WGS data, harmonizes protocols, and creates a shared resource. It develops and maintains a large WGS reference panel used to improve genotype imputation in other studies. Data are made available to qualified researchers through controlled-access databases such as dbGaP, with appropriate privacy protections.

By enabling deep sequencing and multi-omics integration, TOPMed has facilitated discoveries of both common and rare genetic variants affecting cardiometabolic traits, blood cell biology, and related phenotypes, expanding understanding of disease biology and potential therapeutic targets.

The project is a collaborative effort involving NHLBI and numerous academic and clinical institutions, with data stewardship and community resources to promote reproducibility, methodological development, and broad data access within governance rules.