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 5.
Figure 5.

Impact of model-transfer filtering on the variant quality. The vertical axis represents Ts/Tv for novel SNPs for model-transferred SVM and self-trained SVM filters. Ts/Tv for known SNPs are ∼3.5, which is higher than novel SNPs because known SNPs contain a larger fraction of synonymous SNPs. The horizontal axis represents the size of targeted regions randomly selected from 500 whole-exome sequences. The transferred model is trained on nonoverlapping 500 exome data.

This Article

  1. Published in Advance April 16, 2015, doi: 10.1101/gr.176552.114 Genome Res. 25: 918-925

Preprint Server



Current Issue

  1. January 2026, 36 (1)
  1. Current Issue
  1. Alert me to new issues of Genome Research