Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels
S. Cannon, Maggie Williams, A. C. Gunning, Caroline Fiona Wright
The paper evaluates nine in silico pathogenicity prediction tools for small in-frame indels using a dataset from gnomAD, ClinVar, and DDD, finding VEST-indel performs best with AUCs of 0.93 and 0.87.
medRxiv · Oct 27, 2022 · PreprintGenetic & Genomic Medicine