Article

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

2025-07-16

Abstract excerpt

More than 4000 rare genetic diseases affect 1 in 16 people, yet ∼50% of patients remain undiagnosed after genetic testing. Identifying genotype-phenotype associations is challenged by small cohorts and high clinical and genetic heterogeneity. Rare variant burden tests increase statistical power in case-control studies, but are limited in rare disease research due to the lack of matched controls in retrospective st...

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Literature Corpus work: a07982cc-87e4-583a-82aa-72a370d23388
DOI: 10.1101/2025.07.16.25331553

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