Benchmarking computational variant effect predictors by their ability to infer human traits.

Daniel R TabetDa KuangMegan C LancasterRoujia LiKaren LiuJochen WeileAtina G CotéYingzhou WuRobert A HegeleDan M RodenFrederick P Roth

Published in: Genome biology (2024)

We describe a method to assess computational variant effect predictors that sidesteps the limitations of previous evaluations. This approach is generalizable to future predictors and could continue to inform predictor choice for personal and clinical genetics.

Keyphrases

endothelial cells
current status
induced pluripotent stem cells
decision making