The call rate of the 11 RVs ranged from 96.1% to 98.0%, with an average call rate of 97.1%. In the sequencing stage, the 11 RVs were observed in 88 DNA pools. TaqMan genotyping successfully validated all of the RVs called in the sequencing stage. Moreover, no additional alleles were found in the 1520 sequenced subjects. This indicates very high sensitivity and specificity of the call set. Our pooled DNA sequencing results were of high quality based on available metrics, mainly due to the extreme high coverage in our sequencing data. After genotyping an additional 6751 subjects, we observed a total of 766 alleles of these 11 RVs in AAs and 543 alleles in EAs (Table 3). Since these RVs exist in at least three individuals in the sequencing stage, none of them were singletons, and 11 of them were already in dbSNP database. The largest MAFs were 0.85% in AAs, and 1.0% in EAs. The average African ancestry proportion was 0.922 in AAs who did not carry any alleles of these 11 RVs, and 0.938 in AAs who were carriers. In EAs, the average African ancestry proportion was 0.063 in non-carriers of these 11 RVs, and 0.069 in carriers.
