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 1.
Figure 1.

Site frequency spectra for the fully resequenced NIEHS gene set, for the Perlegen sequencing-by-hybridization SNP ascertainment set, and for the set of SNPs that the International HapMap consortium genotyped, all contrasted to the neutral expectation (given estimates of the sample θ). Note the marked absence of rare SNPs and oversampling of SNPs of intermediate frequency in the HapMap sample.

This Article

  1. Genome Res. 15: 1496-1502

Preprint Server