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Article

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

Genome medicine - 24 Mar 2026

Favier Antoine, Chounta Stefania, Garcia Alejandro, Jabot-Hanin Fabienne, Chen Xiaoyi, Garcelon Nicolas, Burgun Anita, Higueras Manuel, Guilloux Agathe, Benmerah Alexandre, Martin Yoann, Billot Katy, Rozet Jean-Michel, Perrault Isabelle, Cormier-Daire Valérie, Huber Céline, Zaidan Mohamad, Attie-Bitach Tania, Saunier Sophie, Rausell Antonio

Abstract excerpt

Rare disease gene discovery is limited by small cohorts and the frequent absence of matched controls. We present the Case-Only Burden Test (COBT), a gene-based burden test for case-only designs accounting for multiple variants per individual and additive effects. COBT uses a Poisson model to test for excess variants in a gene relative to expectations from population mutation rates. Simulations show high power and...

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Identifiers

PMID: 41877242
DOI: 10.1186/s13073-026-01619-9
PMCID: PMC13134200

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