Author

Valérie Malan

Hôpital Necker-Enfants MaladesORCID 0000-0002-3450-4958Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:database / resource· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-genome sequencing· 2 Approach:Bayesian inference· 1 Research Focus:benchmarking· 1 Approach:graph neural network· 1

Frequent Co-Authors

Antonio RauselliD· 3 shared Francisco Requena· 2 shared Alejandro García· 1 shared Barthélémy CaroniD· 1 shared Christophe BéroudiD· 1 shared Damien SanlavilleiD· 1 shared David SalgadoiD· 1 shared Frédéric BilaniD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Antonio RausellORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

PAGAN predicts digenic interactions by generalizing single-gene representations in biological networks

Romain Nicolle, Barthélémy Caron, Valérie Malan, Antonio Rausell

PAGAN predicts digenic interactions by learning network representations of gene pairs from single-gene data in biological networks.

medRxiv · Jan 29, 2026 · PreprintGenetic & Genomic Medicine

CNVscore calculates pathogenicity scores for copy number variants together with uncertainty estimates accounting for learning biases in reference Mendelian disorder datasets.

Francisco Requena, David Salgado, Valérie Malan, Damien Sanlaville, Frédéric Bilan, Christophe Béroud, Antonio Rausell

CNVscore calculates pathogenicity scores for copy number variants with uncertainty estimates, improving the assessment of CNV pathogenicity in rare disease cohorts.

medRxiv · Jun 23, 2022 · PreprintGenetic & Genomic Medicine

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients

Francisco Requena, Hamza Hadj Abdallah, Alejandro García, Patrick Nitschké, Sergi Romana, Valérie Malan, Antonio Rausell

CNVxplorer is a web tool that improves CNV interpretation in rare disease patients by integrating clinical, genomic, and epigenomic features to enhance diagnostic accuracy.

Nucleic Acids Research · May 20, 2021Peer-reviewedGenetic & Genomic Medicine