Figure 2
From: Genomic features defining exonic variants that modulate splicing
Splice-affecting genome variants are characterized by losses of large numbers of NI-ESEs and the gain of large numbers of NI-ESSs, often in combination. For both ESE losses and ESS gains, the proportion of SAVs with changes of two or more were significantly greater compared to hSNPs. Combinations of ESE losses and ESS gains, as opposed to each occurring independently, are highly enriched in SAVs compared to hSNPs (bottom graph).