Fig. 1.

SNPlice principle. Alignment of reads spanning a potential splice modulating SNV and an exon-intron boundary, illustrating the SNPlice analytical strategy. Sequencing reads with variant and reference nucleotide at the SNV position in the proximity of the boundary are shown (color coded). Variant-harboring reads often continue in the intron (P = 0.005), indicating association with potential junction alteration. The double vertical line indicates the first position of the intron