Sensitive and accurate detection of copy number variants using read depth of coverage

(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 3.
Figure 3.

Examples of CNVs detected by analysis of RD. We present four examples of polymorphic gains and losses detected by EWT in five individuals. The x-axis represents genomic coordinates (in Mbp) and the y-axis represents RD, which is median-normalized to copy number 2. In each panel, plots are for NA12878, NA12891, NA12892, NA18507, and YH from top to bottom. The coordinates of A, B, C, and D are chr1:150,792,101–150,884,101, chr1:103,930,401–104,053,201, chr1:205,319,001–205,399,701, and chr1:150,422,701–150,486,501, respectively.

This Article

  1. Published in Advance August 5, 2009, doi: 10.1101/gr.092981.109 Genome Res. 19: 1586-1592

Preprint Server



Current Issue

  1. March 2026, 36 (3)
  1. Current Issue
  1. Alert me to new issues of Genome Research