Low-pass sequencing increases the power of GWAS and decreases measurement error of polygenic risk scores compared to genotyping arrays

(Downloading may take up to 30 seconds. If the slide opens in your browser, select File -> Save As to save it.)

Click on image to view larger version.

Figure 3.
Figure 3.

Comparison of imputation quality across experiments for each superpopulation. Variants were binned according to their minor allele frequency in the 1KGP3 and imputation r2 averaged across variants in each bin. For all experiments, the 1KGP3 genotypes were treated as “truth” and imputation r2 was computed by taking the squared correlation coefficient between the vector of imputed alternate allelic dosages and the truth genotypes. Same results on a log scale are shown in Supplemental Figure 13. Note that imputation performance at low MAF for a given sequencing experiment was often higher in the AFR cohort compared to the EUR cohort.

This Article

  1. Genome Res. 31: 529-537

Preprint Server