Assessing computational variant effect predictors via a prospective human cohort

New Preprint! from our group "Assessing computational variant effect predictors via a prospective human cohort"

“Computational predictors can help interpret pathogenicity of human genetic variants, especially for the majority of variants where no experimental data are available.”

“We found that two predictors—VARITY and REVEL—outperformed all others according to multiple performance measures. We expect that this study will help in selecting variant effect predictors, for both research and clinical purposes, while providing an unbiased benchmarking strategy that can be applied to additional cohorts and predictors.” To learn more: https://bit.ly/3ua1nQj or visit the Roth Lab’s website > http://llama.mshri.on.ca/index.html