Research theme 01
Cancer Genomics & Somatic Variant Interpretation
Variant assessment, molecular context and separating potentially relevant alterations from findings of uncertain significance.
Stated area of interest Named by KPCIRC as an area of scientific interest. Not a claim of an active funded project.
A sequencing report lists what was detected. Interpretation asks which of those somatic variants plausibly matter for a particular tumour, how confident that judgement can be, and what remains uncertain. This theme examines how variant classification, tumour context and evidence are combined into a defensible reading.
Questions of interest
- How consistently can somatic variants be classified across assays and report formats?
- Which contextual fields (tumour content, variant fraction, copy number) most change an interpretation?
- How should variants of uncertain significance be communicated so they are not mistaken for drivers?
Approaches
- Structured variant review using public knowledge bases and guidelines
- Comparison of interpretations across report formats
- Explicit uncertainty labelling and discordance flags
Connection to clinical services
Informs the CloneTrace and PhenoMap layers of POAS, which read reported variants against specimen and tumour-biology context.
Limitations
- A database annotation is not proof that a variant drives an individual tumour.
- Variant allele fraction alone does not establish germline origin, clonality or actionability.
Projects and outputs
No verified projects or publications are listed for this theme yet.