Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes
Malvika Tejura, Shawn Fayer, Abbye E. McEwen, Jake Flynn, Lea M. Starita, Douglas M. Fowler
Topics & Concepts
GenomeGeneComputational biologyBiologyGeneticsMissense mutationIn silicoDivergence (linguistics)PhenotypeLinguisticsPhilosophyGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology