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‘Truthsets’ for clinical validation of large-scale functional assays: Practice recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK)

2026-07-13

Abstract excerpt

<h4>Background</h4> Large-scale functional assays, including multiplex assays of variant effect, have substantial potential to resolve variants of uncertain significance (VUS), particularly for rare missense variants where clinical and population evidence are limited. The ClinGen assay-level clinical validation framework described by Brnich et al provided baseline guidance for the use of functional data for varia...

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Literature Corpus work
5f853c64-0bf9-538c-9b04-64bccc9094f7
DOI
10.64898/2026.07.10.26357770
Open publication

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‘Truthsets’ for clinical validation of large-scale functional assays: Practice recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK)DOI 10.64898/2026.07.10.26357770
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