CBioPortal: What does Mutation type: Targeted_Region means?
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1 day ago
Frans ▴ 20

When using cBioPortal and looking at the mutations table for each sample, there is a column called "Mutation Type". While I understand most of its entry such as SPLICE, FS DEL, FS INS, MISSENSE, NONSENSE; there is one that I do not understand and cannot find an explanation for which is "TARGETED_REGION". Can anyone please explain what this means?

cbioportal variants cancer oncokb • 752 views
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Aleksandra ▴ 130

"TARGETED_REGION" is not a mutation type, but an annotation. It means that this genomic region was successfully covered by targeted sequencing for this sample and no mutations were found in it (wild-type status). This annotation allows us to distinguish between regions that have been tested and found to be “clean” and regions that have not been sequenced at all in this sample. This is critical for the correct calculation of mutation frequency in the cohort, as only those samples where the gene has actually been analysed should be included in the denominator.

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