Author

Xavier Vanhoye

Eurofins (France)ORCID 0000-0001-8875-5851Unclaimed ORCID profile · follow to get notified of new preprints

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 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1

Frequent Co-Authors

Laure RaymondiD· 2 shared Laurent MesnardiD· 2 shared Aleksandra Grujic· 1 shared Alice DoreilleiD· 1 shared Aude TessieriD· 1 shared Béatrice Laudier· 1 shared Benjamin CognéiD· 1 shared Benjamin Dauriat· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Laure RaymondORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 22, 2026

Complete pharmacogenomic profile from exome sequencing

Ilias Bensouna, Aleksandra Grujic, Fanny Ponce…·Laure Raymond

This paper presents a method to derive a complete pharmacogenomic profile from exome sequencing data, validated against multiple reference assays.

DOI 10.64898/2026.01.13.26343772

humanwhole-exome sequencing

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Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedSep 22, 2022

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…·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.

47 citationstop 1%

humanwhole-exome sequencing

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