Advancing DNA-sequencing technologies and decreasing costs are enabling researchers to explore human genetic variation at an unprecedented scale2,3. For these advances to improve our understanding of human health, they must be deployed in well-phenotyped human samples and used to build resources such as variation catalogues3,4, control collections5,6 and imputation reference panels7–9. Here we describe high-coverage whole-genome sequencing (WGS) analyses of the first 53,831 TOPMed samples (Box 1 and Extended Data Tables 1, 2); additional data are being made available as quality control, variant calling and dbGaP curation are completed (altogether more than 130,000 TOPMed samples are now available in dbGaP).
