Pathogenicity and selective constraint on variation near splice sites

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Figure 5.
Figure 5.

Pathogenicity scores for observed near-splice site DNMs. Cumulative percentage of DNMs in known dominant DD genes with decreasing pathogenicity score bracket, shown with canonical splice site positions included (left) and excluded (right). (AUC*) area under curve.

This Article

  1. Published in Advance December 26, 2018, doi: 10.1101/gr.238444.118 Genome Res. 29: 159-170

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