Fig. 5: JARVIS performance on validation sets. | Nature Communications

Fig. 5: JARVIS performance on validation sets.

From: Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning

Fig. 5

ROC curves from prediction on different sets of noncoding variants (falling into intergenic regions, UTRs, lincRNAs, UCNEs, and VISTA enhancers) not used during JARVIS training. In each case, a benign set of equal size has been randomly subset from the denovo-db control variants, avoiding any overlaps with the pathogenic variants in each of the validation sets. a GWAS hit SNVs (n = 1262). b Noncoding variants with mendelian traits (n = 118). c Generalization test set (ncRNA; n = 70). d Generalization test set (other; n = 34). In each plot, n refers to the total size of the validation set, including both pathogenic variants and a sample of control variants of equal size.

Back to article page