Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants
Hao Wu, Jin‐Huan Lin, Xin‐Ying Tang, Gaëlle Marenne, Wen‐Bin Zou, Sacha Schutz, Emmanuelle Masson, Emmanuelle Génin, Yann Fichou, Gérald Le Gac, Claude Férec, Zhuan Liao, Jian‐Min Chen
The paper combines full-length gene splicing assay and SpliceAI to analyze splicing effects of SPINK1 coding variants, finding less than 2% of variants significantly impact splicing.
Human Genomics · Feb 27, 2024Peer-reviewedGenetic & Genomic Medicine