Fig. 3: AUC-ROC values of sliding-window MTR in UKB for predicting three variant sets across different ancestry groups.
From: Diverse ancestral representation improves genetic intolerance metrics
a AUC-ROC scores reflecting each score’s ability to distinguish between ClinVar “pathogenic” or “likely pathogenic” variants and control variants from gnomAD. b Same as a, except control variants were derived from TOPMed. c Ability of each score to distinguish between de novo variants observed in probands versus unaffected siblings in denovo-db. Control variants from gnomAD are variants found in gnomAD but not in UKB. Control variants from TOPMed are variants found in TOPMed but not in UKB or gnomAD. ClinVar Pathogenic contains ClinVar variants annotated as pathogenic or likely pathogenic. The box plots show the median (centre line), first and third quartiles (box limits), and 1.5x the interquartile range above and below the third and first quartiles (upper and lower whiskers). AFR African, ASJ Ashkenazi Jewish, EAS East Asian, SAS South Asian, NFE non-Finnish European.
