A key goal of the TOPMed programme is to understand risk factors for heart, lung, blood and sleep disorders by adding WGS and other ‘omics’ data to existing studies with deep phenotyping (Supplementary Information 1.1 and Supplementary Fig. 1). The programme currently consists of more than 80 participating studies, around 1,000 investigators and more than 30 working groups (https://www.nhlbiwgs.org/working-groups-public). TOPMed participants are ethnically and ancestrally diverse (Extended Data Fig. 1, Supplementary Information 1.1.4 and Supplementary Fig. 2). Through a combination of race and ethnicity information (from participant questionnaires and/or study inclusion criteria), we classified study participants into ‘population groups’, which varied in composition according to the goals of each analysis. In some analyses, these groups were further refined using genetic ancestry (see Methods and Supplementary Information for details).
