Author

Na Pu

InsermORCID 0000-0001-7002-4815Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Claude FéreciD· 2 shared D.N. CooperiD· 2 shared Emmanuelle GéniniD· 2 shared Emmanuelle MassoniD· 2 shared Jian‐Min CheniD· 2 shared Wen‐Bin ZouiD· 2 shared Gérald Le GaciD· 1 shared Jiucun WangiD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetics

Claude FérecORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintAug 20, 2026

Context-dependent variant interpretation from Mendelian disease to genetic predisposition: a proof-of-concept using LPL

Qi Yang, Wen‐Bin Zou, Na Pu…·Jian‐Min Chen

This paper proposes a context-dependent framework for variant interpretation by analyzing LPL loss-of-function variants, showing how residual activity levels influence clinical outcomes.

DOI 10.64898/2026.08.12.744351

humanwhole-exome sequencing

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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