Author

Anita Burgun

Hôpital Necker-Enfants MaladesORCID 0000-0001-6855-4366Unclaimed ORCID profile · follow to get notified of new preprints

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 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

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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