Optical genome mapping enables accurate testing of large repeat expansions

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Figure 1.
Figure 1.

Total overview of the data analysis workflow. For each sample, a de novo assembly was generated and the local-GA pipeline and molecule distance script were run. After each workflow, the maps and/or molecules to calculate workflow-specific repeat lengths were manually assessed. Green boxes denote the data analysis parts and gray boxes denote the data interpretation parts. (*) Workflows 1 and 2 were used to determine repeat lengths, while workflow 3 was used to identify potential somatic instability.

This Article

  1. Genome Res. 35: 810-823

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