Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes

(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.

Deletion length histogram of detected SVs from NA18507 in human genome build 36 with the weighted VariationHunter-SC algorithm (weighted_support ≥ 3). Increased numbers of predicted deletions of size 300 bp and 6 Kbp (due to AluY and L1Hs repeat units, respectively) are clearly seen in the histogram, confirming the known copy-number polymorphism in retrotransposons (Batzer et al. 1996; Boissinot et al. 2000).

This Article

  1. Genome Res. 19: 1270-1278

Preprint Server