Article

Clinical validation of large-scale functional assays: insights from 2,120 gene-truthset-assay evaluations

2026-07-14

Abstract excerpt

<h4>Background</h4> Clear guidance is lacking regarding how ‘truthset’ variants should be used for clinical validation of functional assays, namely determining the allocatable evidence points (EPs) towards clinical classification. It is argued that assays should be validated using truthsets of missense variants, as this is the variant type for which classification is most impacted by functional data. EPs will be...

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Literature Corpus work: 1b604939-b80a-5e35-86c1-3e99fa03d620
DOI: 10.64898/2026.07.10.26357766

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