Author

Quentin Testard

Centre National de la Recherche Scientifique

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

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Assay:electronic health records· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

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

Activity by Year

2022-2022 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

David GenevièveORCID

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3 papers

Recent·Most cited

Exome sequencing as a first-tier test for copy number variant detection : retrospective evaluation and prospective screening in 2418 cases.

Quentin Testard, Xavier Vanhoye, Kévin Yauy, Marie-Emmanuelle Naud, Gaëlle Vieville, Francis Rousseau, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, David Geneviève, Vincent Gâtinois, Constance F. Wells, Marjolaine Willems, Christine Coubes, Lucile Pinson, , Julien Thévenon

This paper evaluates exome sequencing as an alternative to chromosomal microarray for detecting copy number variants in rare disorders, showing improved diagnostic yield in prospective cases.

Journal of Medical Genetics · Sep 22, 2022Peer-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