Author

Stefania Chounta

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· 1

Signature Assays, Organisms & Methods

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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 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

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Agathe GuillouxORCID

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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