Mutational Signatures (v3.4 - October 2023)
RNA-SBS3 · GRCh37 · COSMIC v99
Mutational profile using 192-channels. This classification is defined by using the 192-channel for the tri-nucleotide context of every possible point nucleotide change on an RNA molecule. Because RNA molecules are single-stranded, we can infer the exact nucleotide change, thus resulting in the 192 channel, unlike DNA single base substitutions, where the strandedness of the nucleotide change cannot always be inferred.
Consisted mainly of A>G and T>C transitions without obvious aetiology.
|First included in COSMIC
|Martinez-Ruiz et al. 2023 Nature
|Different variant callers
|Multiple sequencing centres
|Validated in orthogonal techniques
|Replicated in additional studies
|Extended context enrichment
Summary of the technical and experimental evidence available in the scientific literature regarding the validation of the mutational signature.
Found in non-small cell lung cancer (NSCLC) tumours from patients in the TRACERx study.