Author
University of Wisconsin–MadisonORCID 0000-0002-9851-8582Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Y P Chen, Shawn Fayer, Shantanu Jain…·Vikas Rao Pejaver
This paper improves variant effect predictors by calibrating them gene- and domain-aware, increasing evidence assignment and accuracy for variant classification.
Yiyang Jin, Yuriy Sverchkov, Anastasiya Sushkova…·Mark Craven
This paper introduces a graph-based machine learning approach to predict gene perturbation effects on molecular phenotypes using existing experimental data and biological networks.
Malvika Tejura, Y P Chen, Abbye E. McEwen…·Lea M. Starita
The paper develops a scalable workflow to reclassify variants of uncertain significance using experimental and predictive evidence, resolving 75% of VUS in 40 genes.
Daniel Zeiberg, Ross Stewart, Shantanu Jain…·Predrag Radivojac A
This paper introduces ExCALIBR, a method to calibrate variant scores from functional assays, improving pathogenicity prediction and reducing variants of uncertain significance.