To illustrate the possibilities, we imputed TOPMed variants in array-genotyped participants of the UK Biobank2 and compared the results to exome-sequencing data of overlapping individuals. Of the 463,182 exome-sequencing variants with MAF > 0.05% in 49,819 participants of the UK Biobank, the majority (84.86%) were also present in the TOPMed-imputed data with imputation quality >0.3. This proportion was lower (52.97%) for 3,587,193 non-singleton exome-sequencing variants with MAF ≤ 0.05%. The TOPMed-imputed genotypes were highly correlated with the exome-sequencing genotypes—the average correlation ranged from 0.73 (MAF ≤ 0.05%) to 0.98 (MAF > 25%) (Supplementary Fig. 38).
