An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data

(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 4.
Figure 4.

Comparison of SVM filtering with hard filtering based on a single feature. (A) Ts/Tv of filtered-in (PASS) and filtered-out (FAIL) variants using different filters. Variants are ordered by a single variant feature and a fixed fraction of variants (8%) are filtered out to match the variant counts with the default SVM filter. Absolute values are used for StrandBias correlation and CycleBias correlation. (B) Percentage of filtered-out HumanExome BeadChip (Omni2.5) variants among those that are polymorphic in the array genotypes.

This Article

  1. Genome Res. 25: 918-925

Preprint Server