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

• DOI: 10.1186/s40246-024-00586-9
• Publication Date: 2024-02-27T12:03:01Z
• Authors: Hao Wu; Jin-Huan Lin; Xin-Ying Tang; Gaëlle Marenne; Wen-Bin Zou; Sacha Schutz; Emmanuelle Masson; Emmanuelle Génin; Yann Fichou; Gerald Le Gac; Claude Férec; Zhuan Liao; Jian-Min Chen
• Keywords: Human genetics

Single-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications for pathogenic mechanisms and precision medicine. In this study, we aim to harness the well-established full-length splicing assay (FLGSA) in conjunction with SpliceAI prospectively interpret effects of all potential SNVs four-exon SPINK1 gene, a associated chronic pancreatitis.