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Figure 4 | BMC Medical Genomics

Figure 4

From: Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing

Figure 4

Uracil-DNA glycosylase treatment of FFPE DNA samples distinguishes true and false positive clinical relevant mutations. Integrative Genomic Viewer (IGV) screenshots of two breast cancers and one melanoma sample pre- and post- uracil-DNA glycosylase (UDG) treatment samples. The two breast cancer samples have confirmed PIK3CA mutations (E545K for Ca309 and H1047Y for Ca285) as these mutations were still detected after UDG treatment. The NRAS G12D mutation identified in the pre-UDG sample (Ca97) was a false positive as it was not present after UDG treatment. The variant reads over the total reads and overall allele frequency (a.f.) are shown for each case.

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