Error-prone polymerase activity causes multinucleotide mutations in humans

(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.

Independent mutations in perfect LD. This figure depicts a 20-lineage coalescent tree with a five-lineage subsample highlighted in bold. Light circles represent mutation pairs that appear in perfect LD only in the five-lineage sample. In contrast, dark circles represent pairs of independent mutations that occur in perfect LD in the entire 20-lineage sample. These pairs are concentrated on the longest branches of the tree that are often ancestral to many lineages, making their site frequency spectrum enriched for high frequencies.

This Article

  1. Genome Res. 24: 1445-1454

Preprint Server