Error-prone polymerase activity causes multinucleotide mutations in humans

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Figure 9.
Figure 9.

Linked derived AA/TT allele pairs in the 1000 Genomes data. After observing that a high fraction of yeast MNMs had homogeneous AA/TT derived allele pairs, we tabulated the frequencies Graphic of AA/TT derived allele pairs among perfect LD SNPs L bp apart in the 1000 Genomes data. For comparison, we also plot Graphic, the frequency of AA/TT derived allele pairs among SNPs not in perfect LD. This fraction is consistently lower than Graphic and does not decrease with the distance between SNPs.

This Article

  1. Genome Res. 24: 1445-1454

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