We show that TOPMed WGS data provide a rich resource for developing and testing methods for surveying human variation, for inference of human demography and for exploring functional constraints on the genome73,74. In addition to these uses, we expect that TOPMed data will improve nearly all ongoing studies of common and rare disorders by providing both a deep catalogue of variation in healthy individuals and an imputation resource that enables array-based studies to achieve a completeness that was previously attainable only through direct sequencing.
