Complex mosaic structural variations in human fetal brains

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Figure 4.
Figure 4.

Extrachromosomal circular DNA read support and illustration. We detected a deletion and duplication event in brain B, neuron #12 in the single nuclei data from adult neurons (Lodato et al. 2015). Top panel shows a screen-capture of the region in Integrative Genomics Viewer along with the deletion (red) and duplication (green) supporting reads. Reference sequence around the breakpoints and contigs generated from assembly analysis supporting both deletion (red letters) and duplication (green letters) are represented in the middle panel. The bottom panel illustrates the hypothesis that, given the presence of deletion and duplication supporting reads at the same breakpoints, this event represents an extrachromosomal circular DNA that arises from the deleted region in the reference sequence.

This Article

  1. Genome Res. 30: 1695-1704

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