Author

Audrey Lemaçon

Centre hospitalier universitaire de QuébecORCID 0000-0002-1817-7029Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 4 Assay:GWAS summary statistics· 3 Organism:human· 3 Research Focus:benchmarking· 2 Research Focus:variant effect prediction· 2 Approach:benchmark study· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Arnaud DroitiD· 2 shared Penny Soucy· 2 shared ABCTB Investigators· 1 shared Aðalgeir ArasoniD· 1 shared Åke BorgiD· 1 shared Alicia C. Beeghly-FadieliD· 1 shared Amie M BlancoiD· 1 shared Amina Barhdadi· 1 shared

Activity by Year

2020-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersBioinformatics

Arnaud DroitORCID

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Author profile →

4 papers

Recent·Most cited

MCNV2 (Mendelian CNV Validation): Mendelian Precision for CNV quality assessment

Mame Seynabou Diop, Audrey Lemaçon, Kuldeep Kumar, B. M. Clark, Guillaume Huguet, Florian Bénitière, Martineau Jean‐Louis, Sylvie Hamel, Sébastien Jacquemont

MCNV2 assesses CNV quality using Mendelian Precision, offering tools to compute, explore, and optimize CNV call accuracy in parent-offspring trios.

bioRxiv · May 3, 2026 · PreprintGenetics

Study of effect modifiers of genetically predicted CETP reduction

Marc‐André Legault, Amina Barhdadi, Isabel Gamache, Audrey Lemaçon, Louis‐Philippe Lemieux Perreault, Jean‐Christophe Grenier, Marie‐Pierre Sylvestre, Julie Hussin, David Rhainds, Jean‐Claude Tardif, Marie‐Pierre Dubé

This study examines how sex and BMI modify the effect of genetically predicted lower CETP levels on lipid biomarkers and cardiovascular outcomes using observational genetic data.

Genetic Epidemiology · Jan 26, 2023Peer-reviewedGenetic & Genomic Medicine

DSNetwork: An integrative approach to visualize predictions of variants’ deleteriousness

Audrey Lemaçon, Marie‐Pier Scott‐Boyer, Penny Soucy, Régis Ongaro-Carcy, Jacques Simard, Arnaud Droit

DSNetwork aggregates variant deleteriousness predictions from multiple tools to prioritize functional variants in GWAS loci, using a web interface for visualization and analysis.

Frontiers in Genetics · Jan 17, 2020Peer-reviewedBioinformatics

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

GEMO Study Collaborators, Laura Fachal, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Hugues Aschard, Jonathan Beesley, Daniel R. Barnes, Jamie Allen, Siddhartha Kar, Karen A. Pooley, Joe Dennis, Kyriaki Michailidou, Constance Turman, , Peter Andreas Fasching

This study fine-maps 150 breast cancer risk regions to identify 178 high confidence target genes using genomic and functional annotations.

Nature Genetics · Jan 1, 2020Peer-reviewedGenetics