Author

Joanie Bouchard

Université du Québec à Chicoutimi

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 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 Assay:GWAS summary statistics· 1 Research Focus:polygenic risk· 1

Frequent Co-Authors

Claudia MoreauiD· 3 shared Simon GirardiD· 3 shared Berge A. MinassianiD· 2 shared Jacques L. MichaudiD· 2 shared Patrick Cossette· 2 shared Alexandre GirardiD· 1 shared Catherine LapriseiD· 1 shared Cynthia GagnoniD· 1 shared

Activity by Year

2020-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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3 shared papersGenetics

Claudia MoreauORCID

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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

Global prevalence of potentially pathogenic short-tandem repeats in an epilepsy cohort

Claudia Moreau, Jacques L. Michaud, Fadi F. Hamdan, Joanie Bouchard, Vincent Tremblay, Berge A. Minassian, Patrick Cossette, Simon Girard

The paper identifies a potential pathogenic STR expansion in an epilepsy cohort using whole genome sequencing and three software tools, highlighting discrepancies in variant calling.

bioRxiv · Aug 20, 2020 · PreprintGenetics

Polygenic risk scores of several subtypes of epilepsies in a founder population

Claudia Moreau, Rose‐Marie Rébillard, Stefan Wolking, Jacques L. Michaud, Frédérique Tremblay, Alexandre Girard, Joanie Bouchard, Berge A. Minassian, Catherine Laprise, Patrick Cossette, Simon Girard

The paper calculates polygenic risk scores for epilepsy subtypes in a French-Canadian cohort and finds they provide reliable genetic contribution estimates, though clinical use requires further study.

Neurology Genetics · Mar 27, 2020Peer-reviewedGenetics