Author

Alice Doreille

Sorbonne UniversitéORCID 0000-0002-5145-5000Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aude TessieriD· 1 shared Béatrice Laudier· 1 shared Benjamin CognéiD· 1 shared Benjamin Dauriat· 1 shared Bérénice Herve· 1 shared Chantal MissirianiD· 1 shared Charles CouttoniD· 1 shared Christine Coubes· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aude TessierORCID

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1 paper

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