Author

Élise Duchesne

Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-JeanORCID 0000-0002-9953-8315Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Cynthia GagnoniD· 3 shared Claudia MoreauiD· 2 shared Jean MathieuiD· 2 shared Simon GirardiD· 2 shared Andrii SerdiukiD· 1 shared Cécilia LégaréiD· 1 shared Fares Nigim· 1 shared Gaëlle MoriniD· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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3 shared papersBioinformatics

Cynthia GagnonORCID

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Author profile →

3 papers

Recent·Most cited

Three-Year Longitudinal Analysis of Splicing Changes in Myotonic Dystrophy Type 1

Cécilia Légaré, Lori Planco, Robert Merritt, John E. Ripollone, Sarah C. Conner, Laura M. Desrochers, Fares Nigim, Marie‐Pier Roussel, Cynthia Gagnon, John Douglas Cleary, J. Andrew Berglund, Élise Duchesne

This study tracks splicing index changes in DM1 patients over three years, finding worsening SI scores with variability among participants and associations with clinical phenotypes and baseline severity.

bioRxiv · Oct 1, 2026 · PreprintBioinformatics

A haplotype-based approach for myotonic dystrophy type 1

Claudia Moreau, Gaëlle Morin, Joanie Bouchard, Jean Mathieu, Élise Duchesne, Cynthia Gagnon, Simon Girard

This paper identifies a DM1-associated haplotype in all patients using haplotype-based methods, demonstrating its utility for carrier status inference without direct repeat sizing.

medRxiv · Jul 13, 2026 · PreprintGenetic & Genomic Medicine

Aligning gene trees with family trees

Andrii Serdiuk, Claudia Moreau, Jean Mathieu, Élise Duchesne, Cynthia Gagnon, Simon Girard, Simon Gravel

The paper introduces an algorithm to align genetic tree sequences with genealogical pedigrees, demonstrating its scalability and application to reconstruct allele inheritance.

bioRxiv · Dec 13, 2025 · PreprintBioinformatics