Author

Antoine Favier

Hôpital Necker-Enfants MaladesORCID 0009-0003-5873-3506Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:fine-mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Antonio RauselliD· 2 shared Agathe GuillouxiD· 1 shared Alejandro Garcia· 1 shared Alexandre BenmerahiD· 1 shared Anita BurguniD· 1 shared Céline HuberiD· 1 shared D.N. CooperiD· 1 shared Étienne PatiniD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Antonio RausellORCID

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2 papers

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

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GeneticsProceedings of the National Academy of SciencesPeer-reviewedJun 2, 2020

Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

Antonio Rausell, Yufei Luo, Marie Lopez…·Laurent Abel

The paper identifies 166 dispensable human genes with common loss-of-function variants that show relaxed selective constraints and some evidence of positive selection.

37 citations

humanGWAS summary statistics

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