Article

A Bayesian model for quantifying genomic variant evidence sufficiency in Mendelian disease

2025-12-04

Abstract excerpt

<h4>Summary</h4> Clinical genomic interpretation depends on heterogeneous evidence checks that vary across institutions and pipelines. This variation prevents evidence from being compared or verified in a reliable way. We address this logistical barrier by introducing a universal, verifiable layer that evaluates the completeness of available scientific evidence independently of upstream analytic systems. Quantita...

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Literature Corpus work: 73c53eeb-9c7d-587a-a7cc-c8fd94e676dc
DOI: 10.64898/2025.12.02.25341503

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