Article

Availability of benign missense variant “truthsets” for validation of functional assays: current status and a novel systematic approach

2025-03-20

Abstract excerpt

Multiplex assays of variant effect (MAVEs) provide promising new sources of functional evidence, potentially empowering improved classification of germline genomic variants, particularly rare missense variants, which are commonly assigned as VUS (variants of uncertain significance). However, paradoxically, quantification of clinically applicable evidence strengths for MAVEs requires construction of “truthsets” com...

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Literature Corpus work: 3de8a6e0-ddcd-574e-9a16-059e0c2846ca
DOI: 10.1101/2025.03.20.25324299

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