Article

Beyond thresholds: a fully Bayesian framework for quantifying allele count evidence for variant pathogenicity

2026-02-10

Abstract excerpt

Allele count data from affected individuals and population controls are central to variant interpretation, yet their evidential meaning is often mediated by discrete thresholds and implicit assumptions. This work introduces a fully quantitative Bayesian framework for dominant rare disease genetics in which all allele count evidence is summarized by a single quantity, the Bayes factor, that evaluates the probabilit...

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Literature Corpus work: 9135f437-df82-52d2-9ea2-9809f3d1b927
DOI: 10.64898/2026.02.09.704882

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