Author

Agathe Guilloux

Institut national de recherche en sciences et technologies du numériqueORCID 0000-0003-0473-1970Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alejandro Garcia· 1 shared Alexandre BenmerahiD· 1 shared Anita BurguniD· 1 shared Antoine FavieriD· 1 shared Antonio RauselliD· 1 shared Céline HuberiD· 1 shared Fabienne Jabot‐HaniniD· 1 shared Isabelle PerraultiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Alejandro Garcia

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedMar 24, 2026

COBT: A gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.

Antoine Favier, Stefania Chounta, Alejandro Garcia…·Antonio Rausell

COBT is a gene-based rare variant burden test for case-only studies that outperforms existing methods and identifies novel candidate variants in rare diseases.

DOI 10.1186/s13073-026-01619-9

humanwhole-exome sequencing

𝕏 PostBluesky