Simon Girard, Université du Québec à Chicoutimi

Research

Genomics 30x Whole Genome Sequencing Asthma Asthma Persistence Bioinformatics Epigenomics Genealogies Imputations

Latest papers

Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada.
Genetics in medicine open · 2025
RetroFun-RVS: A Retrospective Family-Based Framework for Rare Variant Analysis Incorporating Functional Annotations.
Genetic epidemiology · 2025
The role of common genetic variation in presumed monogenic epilepsies.
EBioMedicine · 2022

All 4 publications

Latest funding

Integration of genomic and genealogical data to decipher the genetics of asthma
CIHR · 2022 · Principal investigator
$1,120,726
Canada Research Chair - Tier 2
CIHR · 2022 · Nominated PI
$600,000
Investigating the role of non-coding variations in epilepsy
CIHR · 2019 · Nominated PI
$436,050

All 3 grants and awards

4 publications.

01

Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada.

Fortin CA, Côté-Richer M, Truchon K, Leblanc J, Pratte A, Tardif J, Thomas MJ, Villeneuve J, Mathieu J, Grimard D, Desmeules M, Moreau C, Girard S, Cruz-Marino T, Bouchard L

Genetics in medicine open2025

DOI: 10.1016/j.gimo.2025.103435 PMID: 40584454

02

RetroFun-RVS: A Retrospective Family-Based Framework for Rare Variant Analysis Incorporating Functional Annotations.

Mangnier L, Ruczinski I, Ricard J, Moreau C, Girard S, Maziade M, Bureau A

Genetic epidemiology2025

DOI: 10.1002/gepi.70001 PMID: 39876583

03

The role of common genetic variation in presumed monogenic epilepsies.

Campbell C, Leu C, Feng YA, Wolking S, Moreau C, Ellis C, Ganesan S, Martins H, Oliver K, Boothman I, Benson K, Molloy A, Brody L, Epi4K Collaborative, Genomics England Research Consortium, Michaud JL, Hamdan FF, Minassian BA, Lerche H, Scheffer IE, Sisodiya S, Girard S, Cosette P, Delanty N, Lal D, Cavalleri GL, Epi25 Collaborative

EBioMedicine2022

DOI: 10.1016/j.ebiom.2022.104098 PMID: 35679801

04

Polygenic risk score for atopic dermatitis in the Canadian population

Simard M, Madore A-M, Girard S, Waserman S, Duan Q, Subbarao P, Sears MR, Moraes TJ, Becker AB, Turvey SE

Journal of Allergy and Clinical Immunology202122 citations

DOI: 10.1016/j.jaci.2020.04.057

Integration of genomic and genealogical data to decipher the genetics of asthma

Principal investigatorCIHR2022Project Grant

Principal investigators: Laprise, Catherine; Girard, Simon

Keywords: 30x Whole Genome Sequencing; Asthma; Asthma Persistence; Bioinformatics; Epigenomics; Genealogies; Genomics; Imputations; Integrated Database; Omics Integration

$1,120,726

Canada Research Chair - Tier 2

Nominated PICIHR2022Canada Research Chairs - CIHR Funded - Tier 2

Principal investigators: Girard, Simon

Keywords: Crc

$600,000

Investigating the role of non-coding variations in epilepsy

Nominated PICIHR2019Project Grant

Principal investigators: Girard, Simon

Keywords: Epilepsy; Genealogy; Genomics; Identity-By-Descent; Non Coding Variants; Strs; Structural Variants

$436,050

From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.

Frequent collaborators

Basic Sciences
Medicine
Kinesiologie
Biochimie et génomique fonctionnelle
Epidemiology Division
Biomedical and Molecular Sciences
Other

Applying for

Paper to mentionMention their CIHR grant from 2022

Subject: Prospective PhD student: Genomics Dear Professor Girard, My name is [your name], and I am a [your current degree or role] at [your institution]. I am applying for a PhD position starting in [term and year]. I read your paper "Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada." (2025), and it connects closely to my own work on [your research topic]. [One or two sentences on what you did and what you learned.] I also saw your CIHR-funded project "Integration of genomic and genealogical data to decipher the genetics of asthma" (2022), and I would be glad to contribute to work in that direction. Are you accepting new PhD students for [term and year]? I have attached my CV and transcripts, and I would be glad to talk at a time that suits you. Thank you for your time. Kind regards, [your name]