In this final phase, individuals were sampled from 26 populations in Africa (AFR), East Asia (EAS), Europe (EUR), South Asia (SAS), and the Americas (AMR) (Fig. 1a; see Supplementary Table 1 for population descriptions and abbreviations). All individuals were sequenced using both whole-genome sequencing (mean depth = 7.4×) and targeted exome sequencing (mean depth = 65.7×). In addition, individuals and available first-degree relatives (generally, adult offspring) were genotyped using high-density SNP microarrays. This provided a cost-effective means to discover genetic variants and estimate individual genotypes and haplotypes1,2.
