Author

Jerome Audoux

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· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

David GenevièveiD· 2 shared Denis Bertrand· 2 shared Julien ThévenoniD· 2 shared Kévin YauyiD· 2 shared Nicolas Duforet-Frebourg· 2 shared Nicolas PhilippeiD· 2 shared Quentin Testard· 2 shared Sacha Beaumeunier· 2 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

David GenevièveORCID

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2 papers

Recent·Most cited

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