Skip to main content
. Author manuscript; available in PMC: 2021 Feb 23.
Published in final edited form as: Genet Med. 2018 Dec 3;21(7):1486–1496. doi: 10.1038/s41436-018-0372-2

Fig. 2. Calibration and validation of the CIMRA assay.

Fig. 2

(a) Relative repair efficiencies for MLH1 and MSH2 variants from the first CIMRA training set. Variants are colored according to their InSiGHT classification (see legend in figure). The MSH2 p.A636P variant and the MLH1 p.G67R variant are included in every experiment as repair-deficient (pathogenic) controls. Bars represent mean ± SEM of 3–5 experiments. Asterisks indicate variants whose MMR activity appears discordant with their original InSiGHT classification. (b) Receiver operator characteristic (ROC) curve for the first CIMRA assay training. (c) Regressions of first (blue) and second (red) CIMRA assay training values against odds in favor of pathogenicity. Both curves are embedded in their 80% confidence envelopes. Note that the y-axes in (c) and (f) display probability of pathogenicity rather than Log(odds in favor of pathogenicity), to emphasize sigmoid calibration bounded at probabilities of 1.00 and 0.00. (d) As in (a), but for second CIMRA assay training. (e) ROC curve for the second CIMRA assay training. (f) As in (c), but shown here is the final calibration curve combining first CIMRA assay training (n = 35) and second CIMRA assay training (n = 35) substitutions; the regression curve is embedded in both 80% and 95% confidence envelopes. IARC International Agency for Research on Cancer.