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Fig. 6 | Human Genomics

Fig. 6

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

Fig. 6

RT-PCR results from the FLGSA analysis of 35 potential SPINK1 coding variants. Each band that underwent successful Sanger sequencing has been systematically annotated. These bands have been classified as either normally spliced transcripts (indicated by arrows) or aberrantly spliced transcripts, characterized by the retention of the first 140 bases of intron 1 or the skipping of exon 2. It is noteworthy that in cases where a variant produced two successfully sequenced bands, certain bands may contain both normally spliced and aberrantly spliced transcript isoforms. For further details and interpretation of these findings, refer to the main text. Full-length, unaltered gel images corresponding to this figure are made accessible in Additional file 2. Abbreviations: FLGSA, full-length gene splicing assay. RT-PCR, reverse transcription-PCR

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Human Genomics

ISSN: 1479-7364