Optical genome mapping enables accurate testing of large repeat expansions

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Figure 2.
Figure 2.

Correlation between the manual de novo assembly repeat lengths and the local-GA repeat lengths. For this correlation assessment, we only used the 77/85 (90.6%) samples for which both the manual de novo assembly workflow and the local-GA workflow detected a repeat expansion. The black line represents the trendline showing the correlation between manual de novo assembly and local-GA. The dashed gray line represents the optimal correlation line.

This Article

  1. Published in Advance March 20, 2025, doi: 10.1101/gr.279491.124 Genome Res. 35: 810-823

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