Author

Alejandro Garcia

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

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

Agathe GuillouxiD· 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

Agathe GuillouxORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

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, Fabienne Jabot‐Hanin, Xiaoyi Chen, Nicolas Garcelon, Anita Burgun, Manuel Higueras, Agathe Guilloux, Alexandre Benmerah, Yoann Martin, Katy Billot, Jean‐Michel Rozet, Isabelle Perrault, Valérie Cormier‐Daire, , 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.

Genome Medicine · Mar 24, 2026Peer-reviewedGenetic & Genomic Medicine