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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics

Fig. 3

Sensitivities and specificities of the stand-alone prediction tools Align-GVGD, SIFT, MutationTaster2 (MT) and PolyPhen-2 (PPhen-2). The sensitivities and specificities varied between the tools and with values of ≥0.90, Align GVGD performed best for the Evaluation Data Set. Performance for BRCA1 and BRCA2 variants was comparable for all tools, except for PolyPhen-2 which showed a lower sensitivity of only 0.56 on BRCA1 variants compared with 1.0 on BRCA2 variants and a specificity of 0.67 on BRCA1 compared with 0.72 on BRCA2 variants. Comparison between the Classified Variant Set and Evaluation Variant Set revealed only minor differences in sensitivity and specificity for the four tools examined here

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BMC Medical Genomics

ISSN: 1755-8794

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