Professional
Technical
IVT
somatic variant calling
The computational process of identifying genetic mutations present only in tumor tissue, not inherited germline DNA.
Full Definition
Somatic variant calling is a bioinformatics process that identifies genetic mutations that have occurred specifically in cancer cells, distinguishing them from inherited germline variants. This process involves comparing tumor tissue sequencing data against matched normal tissue to detect cancer-specific mutations. The accuracy of somatic variant calling is crucial for precision oncology treatment decisions, as these variants often drive cancer progression and determine therapeutic targets.
Usage
Usage note: Distinguish from germline variant calling, which identifies inherited mutations.
In Context
- "The somatic variant calling algorithm detected 127 mutations in the patient's tumor sample." — Genomics report
- "Quality control metrics showed low confidence in somatic variant calling due to insufficient tumor purity." — Laboratory documentation
Also known as
tumor variant detection
cancer mutation calling
Contrasted with
germline variant calling
Don't confuse with
germline variant calling
copy number calling