Author

Jean Mathieu

Université de SherbrookeORCID 0000-0002-2597-9708Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Claudia MoreauiD· 3 shared Cynthia GagnoniD· 3 shared Simon GirardiD· 3 shared Élise DuchesneiD· 2 shared Andrii SerdiukiD· 1 shared Élisa Michel· 1 shared Gaëlle MoriniD· 1 shared J.-C. TardifiD· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Claudia MoreauORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

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

Rare diseases load through the study of a regional population

Élisa Michel, Claudia Moreau, Laurence Gagnon, Mylène Gagnon, Josianne Leblanc, J.-C. Tardif, Lysanne Girard, Jean Mathieu, Cynthia Gagnon, Mathieu Desmeules, Jean‐Denis Brisson, Luigi Bouchard, Simon Girard

This study identifies rare genetic variants in a Quebec population with a founder effect, validates known variants, discovers new ones, and highlights their clinical relevance.

PLoS Genetics · Oct 16, 2025Peer-reviewedGenetic & Genomic Medicine