Fig. 3
From: Deciphering the impact of genetic variation on human polyadenylation using APARENT2
Interpretation of cis-acting polyadenylation variants. A Mask-based variant interpretation, reconstructing the relative odds ratio between the wildtype and mutated sequence. B Interpretation of a ClinVar SNV in the LDHA PAS (rs886048091). Left boxplot: Measured LORs of TGTA-creating variants from the MPRA of Bogard et al. [36]. Right boxplot: Measured LORs of non-TGTA-creating variants. p-values are computed with two-sided t-tests. C Interpretation of two variants of interest in the MOCS2 PAS and BMPR1A PAS. D Individual- and pairwise TGTA motifs were inserted in wildtype PASs and their LORs were measured in an MPRA [36]. E Predicted and observed LOR of individual TGTA insertions. F Predicted and observed LOR of dual TGTA insertions