Detection of long repeat expansions from PCR-free whole-genome sequence data

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Figure 4.
Figure 4.

Sizes of the longer repeat alleles predicted by ExpansionHunter in the 152 samples identified as having either a premutation or an expansion at loci associated with eight different diseases and 24 additional control samples. Circles indicate the most-likely repeat length of the longer allele in base pairs for a sample identified with a premutation (orange) or expansion (red), and the blue circles show the predicted repeat lengths for the controls. The controls include samples with measurements showing that they fall in the “normal” range and samples that have a different repeat expansion. Thus, each sample will have one circle for each of the eight repeat expansions. The regions are shaded to indicate the normal ranges (blue), premutation ranges (yellow), and expansion sizes (light red) (McMurray 2010). Additional information is available in Supplemental Tables 7 and 8.

This Article

  1. Genome Res. 27: 1895-1903

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