Author

Francis Rousseau

Commissariat à l'Énergie Atomique et aux Énergies AlternativesORCID 0009-0002-5831-1322Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alice DoreilleiD· 1 shared Asmae BachriD· 1 shared Aude TessieriD· 1 shared Aurélie LeduciD· 1 shared Béatrice Laudier· 1 shared Benjamin CognéiD· 1 shared Benjamin Dauriat· 1 shared Bérénice Herve· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alice DoreilleORCID

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2 papers

Recent·Most cited

GenomicsbioRxivPreprintApr 22, 2026

Unraveling the potential of short and long read sequencing for human genome profiling

Aurélie Leduc, Asmae Bachr, Florian Sandron…·Vincent Meyer

This study compares short and long read sequencing technologies for human genome profiling, finding they are equivalent for SNVs but long reads excel in structural variants and haplotype phasing.

DOI 10.64898/2026.04.20.719568

humanwhole-genome 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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