Figure 3.

Enrichment of SVs among genes underlying visible phenotypes. (A) Distribution of candidate mutation classes identified across the 50 visible phenotypes analyzed in this study. Mutation classes include large structural variants (LSVs; >100 bp), small structural variants (SSVs; 11–100 bp), and transposable element (TE) insertions, with TEs further classified as long terminal repeat (LTR) or long interspersed nuclear element (LINE) retrotransposons. (B) Monte Carlo null distributions of the expected number of genes harboring at least one SV, generated by randomly sampling 43 genes matched for gene length from the genome-wide SV map across 10 assemblies (purple) and from the DSPR SV map (orange). The observed number of marker genes containing a candidate SV (29 of 43) is indicated by the red vertical line.

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