Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history

(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.

(A) Alu-mediated NAHR and preferential attachment are two complementary mechanisms for SD formation. In Alu-rich regions (>10 Alu elements per 10 kb), the association of SDs and pre-existing SDs is much lower than in Alu-poor regions (no Alu elements per 100 kb). Associations are given as Spearman rank correlations of the number of occurrences in genomic bins. All correlations are highly significant (P-value ≪ 0.00001). (B) Association of Alu elements and SDs is highest for the oldest (∼40 Mya) SDs and drops significantly for recent SDs. At the same time, preference for subtelomeric regions and a presumed NHEJ mechanism rises. Associations are given as Spearman rank correlations of the number of occurrences in genomic bins. All correlations are highly significant (P-value ≪ 0.00001).

This Article

  1. Genome Res. 18: 1865-1874

Preprint Server