Jin‐Huan Lin

When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification

The paper examines GT>GC 5' splice-site variants, showing they can retain wild-type transcript and challenge variant classification.

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

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.

5’ splice site GC>GT variants differ from GT>GC variants in terms of their functionality and pathogenicity

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 experimentally obtained functional impact assessments of GT>GC 5' splice site variants differ markedly from those predicted

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.

First estimation of the scale of canonical 5’ splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications

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.