Pathogenicity and selective constraint on variation near splice sites

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Figure 4.
Figure 4.

Selective constraint and pathogenicity scores. MAPS, with 95% CI, calculated for pathogenicity score brackets (least to most severe) in 13,750 unaffected parents from the DDD project, with Spearman's rank correlation coefficient.

This Article

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

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