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

Genetic & Genomic MedicineHuman GenomicsPeer-reviewedAug 16, 2022

A proposed general variant classification framework using chronic pancreatitis as a disease model

Emmanuelle Masson, Wen‐Bin Zou, Emmanuelle Génin…·Jian‐Min Chen

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

100 citationstop 1%

humanstatistical model

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

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Insights into the role of glycerophospholipids on the iron export function of SLC40A1 and the molecular mechanisms of ferroportin disease.

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

A proposed general variant classification framework using chronic pancreatitis as a disease model

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