Author

Francisco Requena

Inserm

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 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:variant effect prediction· 3 Assay:whole-genome sequencing· 3 Research Focus:benchmarking· 2 Research Focus:database / resource· 2 Approach:statistical model· 2 Approach:Bayesian inference· 1 Approach:experimental assay· 1

Frequent Co-Authors

Antonio RauselliD· 3 shared Valérie MalaniD· 2 shared Aaron L. FelleriD· 1 shared Abel GurungiD· 1 shared Ajasja LjubetičiD· 1 shared Akshay ChennaiD· 1 shared Alberto Perez· 1 shared Alejandro Diaz· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Antonio RausellORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Validation and analysis of 12,000 AI-driven CAR-T designs in the Bits to Binders competition

Clayton W. Kosonocky, Alex M. Abel, Aaron L. Feller, Amanda Cifuentes Rieffer, Phillip R. Woolley, Jakub Lála, Delbert S. Barth, Tynan Gardner, Bits to Binders Competitors, Daniel Acosta, Stefano Angioletti‐Uberti, Vinayak Annapure, Neil Anthony, Rana A Barghout, Max Beining, , Rohit Satija

The paper validates and analyzes 12,000 AI-designed CAR-T binders from a global competition, identifying successful designs and factors improving their performance.

Molecular Systems Biology · Oct 8, 2026Peer-reviewedBioinformatics

Federated Learning for the pathogenicity annotation of genetic variants in multi-site clinical settings

Nigreisy Montalvo, Francisco Requena, Emidio Capriotti, Antonio Rausell

This study evaluates federated learning for variant pathogenicity annotation in multi-site clinical settings, showing comparable or better performance than centralized models.

Bioinformatics · Sep 19, 2025Peer-reviewedGenetic & 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