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 1.
Figure 1.

Nonreference concordance (NRC) (Methods) for imputed SNPs for all EUR samples in experiments A–D plotted against effective coverage λeff (left) or nominal mapped coverage (right). We modeled the NRC as the response variable for a k = 5 knot cubic restricted spline with the respective coverage metric as the explanatory variable; the fitted values are shown as a solid line with the surrounding shaded regions representing 95% confidence intervals. The knot locations were set at the 5th, 27.5th, 50th, 72.5th, and 95th percentiles of the respective coverage metrics following Harrell's rule of thumb (Harrell 2017).

This Article

  1. Genome Res. 31: 529-537

Preprint Server