Article
Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach.
American journal of human genetics - 2 Oct 2025
Rowlands Charlie F, Allen Sophie, Garrett Alice, Durkie Miranda, Burghel George J, Robinson Rachel, Callaway Alison, Field Joanne, Frugtniet Bethan, Palmer-Smith Sheila, Grant Jonathan, Pagan Judith, McDevitt Trudi, Snape Katie, Hanson Helen, McVeigh Terri, Turnbull Clare
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 variants of uncertain significance (VUSs). However, paradoxically, quantification of clinically applicable evidence strengths for MAVEs requires construction of "truthsets"...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.