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Fig. 4 | Human Genomics

Fig. 4

From: Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

Fig. 4

Graphical illustration of the SpliceAI Δ scores for three potential single-nucleotide variants at each coding position within SPINK1 exon 3. The x-axis enumerates the coding positions to correlate Δ scores with specific nucleotide changes. Variants subjected to full-length gene splicing assay are highlighted at the figure's bottom, with arrows denoting their analysis status: black for previously analyzed variants, red for those currently assessed in the initial step of prospective analysis, and green for variants in the subsequent validation phase. All variants generated exclusively normally spliced transcripts. Abbreviations: DS, Δ score; AG, acceptor gain; AL, acceptor loss; DG, donor gain; DL, donor loss

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Human Genomics

ISSN: 1479-7364