Zhuan Liao

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.

The paper validates a seven-category variant classification system by testing its applicability across different Mendelian disease contexts and demonstrates its utility for variant interpretation and genetic counseling.

The paper proposes a new variant classification framework for chronic pancreatitis, introducing new categories to better classify variants in disease-causing and predisposing genes.

The paper compares the functionality and pathogenicity of 5' splice site GC>GT and GT>GC variants using a meta-analysis and functional assay, finding that GC>GT variants are largely non-pathogenic.

The paper evaluates SpliceAI's performance in predicting the functional impact of GT>GC 5' splice site variants using experimental data and finds it is not fully accurate.

The paper identifies rare STIM1 coding variants enriched in chronic pancreatitis patients compared to controls, suggesting a potential genetic association.

The paper estimates that 15-18% of canonical GT 5' splice sites can generate wild-type transcripts when mutated to GC, with implications for disease and splicing mechanisms.