Delivers accurate and reliable automated classification of variants for clinical application. GAVIN classifies variants as benign, pathogenic, or a variant of uncertain significance (VUS). It is able to produce high performance in clinically relevant genes. This tool corrects for calibration bias between benign and pathogenic variants, in terms of consequence and rarity, before calculating the classification thresholds.
University of Groningen, University Medical Center Groningen, Genomics Coordination Center, Groningen, Netherlands; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands
GAVIN funding source(s)
Supported by BBMRI-NL financed by the Netherlands Organization for Scientific Research (NWO), grant number 184.033.111; and by NWO VIDI grant number 016.156.455.