Fig. 2: Results from the reanalysis of the Solve-RD and Radboudumc cohorts. | European Journal of Human Genetics

Fig. 2: Results from the reanalysis of the Solve-RD and Radboudumc cohorts.

From: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

Fig. 2: Results from the reanalysis of the Solve-RD and Radboudumc cohorts.The alternative text for this image may have been generated using AI.

a Boxplots showing the number of calls identified per sample, both across all calls and those limited to target regions (within 50 bp range around exon boundaries), within the Solve-RD and Radboudumc cohorts. Note that the X scale is log2. b Overlap of MEI events detected in the Solve-RD and Radboudumc cohorts by MELT and SCRAMble, including both all calls and those restricted to target regions. c Overlap of disease-causing MEIs described in the study between MELT and SCRAMble.

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