Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists.

ABSTRACT: Advances in technology have made it possible for multiplex assays of variant effect (MAVEs) to systematically generate functional data for thousands of genetic variants. Robust clinical validation and accessible online resources for MAVE data have previously been identified as barriers to the clinical adoption of new MAVEs. We delivered a survey during the November 2024 Cancer Variant Interpretation Group UK (CanVIG-UK) meeting comprising National Health Service (NHS) clinical scientists and clinical geneticists and received 46 responses from individuals regularly performing variant classification for diagnostic reporting. Only 35% reported they would accept clinical validation of the MAVE provided by the authors who conducted the assay; 20% reported they would attempt clinical validation

SUBMITTER: Allen S 

PROVIDER: S-EPMC12256791 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature