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.

16 citations

humanDNA methylation

𝕏 PostBluesky

GeneticsHuman MutationPeer-reviewedMay 27, 2019

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

Jin‐Huan Lin, Xin‐Ying Tang, Arnaud Boulling…·Jian‐Min Chen

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.

46 citations

humanDNA methylation

𝕏 PostBluesky

Biology Disciplines

Signature Assays, Organisms & Methods

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

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

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

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