Figure 3. Precision and sensitivity of RADIA on 177 non-hypermutated endometrial carcinoma samples.

Mutations are considered validated in the Somatic Low, Med, or High groups (blue), not validated in the “Not Validated” (green) and Germline/LOH (red) groups, and Ambiguous (orange) when there was low read depth (<10 reads) or ambiguity in the validation data. (A) An overall precision of 98% was demonstrated. RNA Confirmation mutations with strong DNA and RNA support validated over 99%. RNA Rescue mutations validated at 74%. (B) The union of all mutations submitted by TCGA GDACs that validated as somatic was considered as the truth set. RADIA demonstrated an overall sensitivity rate of 84%. Of the mutations that were missed, 33% occurred at low variant allele frequencies (<8%) and 23% occurred in blacklist regions that were ignored.