Ascertainment bias in studies of human genome-wide polymorphism

(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 6.
Figure 6.

Uncorrected (top) and ascertainment-corrected site frequency spectra (bottom) for the HapMap data (red)and the Perlegen data (blue dashed line). The HapMap data seriously underrepresented the rare SNPs compared with Perlegen, and the ascertainment correction produced frequency spectra that were more similar (bottom).

This Article

  1. Genome Res. 15: 1496-1502

Preprint Server