Author

Nicolas Duforet-Frebourg

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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Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Assay:electronic health records· 1 Research Focus:gene regulatory network inference· 1 Approach:machine learning (classical)· 1

Frequent Co-Authors

Julien ThévenoniD· 3 shared Kévin YauyiD· 3 shared Nicolas PhilippeiD· 3 shared David GenevièveiD· 2 shared Denis Bertrand· 2 shared Jerome Audoux· 2 shared Laure RaymondiD· 2 shared Laurent MesnardiD· 2 shared

Activity by Year

2016-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Julien ThévenonORCID

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Author profile →

4 papers

Recent·Most cited

Clinical Evaluation of an AI System for Streamlined Variant Interpretation in Genetic Testing

Jiri Ruzicka, Jean‐Marie Ravel, Jérôme Audoux, Alexandre Boulat, Julien Thévenon, Kévin Yauy, Marine Serveaux Dancer, Laure Raymond, Yannis Lombardi, Nicolas Philippe, Michaël G. B. Blum, Nicolas Duforet-Frebourg, Laurent Mesnard

DiagAI, a machine-learning system, improves variant interpretation in genetic testing by prioritizing causal variants, outperforming existing tools with higher diagnostic yield and shorter variant shortlists.

Current Issues in Molecular Biology · Jul 11, 2026Peer-reviewedGenetic & Genomic Medicine

Learning phenotypic patterns in genetic disease by symptom interaction modeling

Kévin Yauy, Nicolas Duforet-Frebourg, Quentin Testard, Sacha Beaumeunier, Jerome Audoux, Benoît Simard, DImitri Larue, Michaël G. B. Blum, Virginie Bernard, David Geneviève, Denis Bertrand, Nicolas Philippe, Julien Thévenon

This paper develops a symptom interaction model to address heterogeneous phenotype reporting in genetic disease, improving gene prioritization by 42%.

medRxiv · Jul 29, 2022 · PreprintGenetic & Genomic Medicine

Genome Alert!: a standardized procedure for genomic variant reinterpretation and automated genotype-phenotype reassessment in clinical routine

Kévin Yauy, François Lecoquierre, Stéphanie Baert‐Desurmont, Detlef Trost, Aïcha Boughalem, Armelle Luscan, Jean‐Marc Costa, Vanna Géromel, Laure Raymond, Pascale Richard, Sophie Coutant, Mélanie Broutin, Raphaël Lanos, Quentin Fort, Stenzel Cackowski, , Nicolas Philippe

Genome Alert! automatically detects changes in variant classifications and gene-disease associations over time, improving clinical interpretation of genomic data with minimal human effort.

Genetics in Medicine · Mar 17, 2022Peer-reviewedGenetic & Genomic Medicine

Isolation-By-Distance-and-Time in a stepping-stone model

Nicolas Duforet-Frebourg, Montgomery Slatkin

This study develops a theory of Isolation by Distance and Time in a stepping-stone model and evaluates its impact on principal component analysis plots.

Theoretical Population Biology · Apr 1, 2016Peer-reviewedGenetics