A matter of life or death: How microsatellites emerge in and vanish from the human genome

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Figure 2.
Figure 2.

Inference of causal mutation mechanisms for microsatellite birth and death (with thresholds of 5 and 10 repeats for di- and mononucleotide microsatellites, respectively). The lineage experiencing a birth (death) is marked with a green (red) star. (A) Birth by substitution (see Mechanisms of birth/death in Supplementary Information). (B) Birth by non-motif deletion. (C) Birth by motif-insertion. (D) Births resulting from either substitutions or non-motif deletions cannot be distinguished for mononucleotides microsatellites. (E) Death by substitution. (F) Death by non-motif insertion. (G) Death by motif-deletion. (H) Deaths resulting from either substitutions or non-motif insertions cannot be distinguished for mononucleotide microsatellites.

This Article

  1. Genome Res. 21: 2038-2048

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