tumor-normal pairing
The analytical approach of comparing genomic data from tumor tissue with matched normal tissue from the same patient.
Full Definition
Tumor-normal pairing is a fundamental analytical strategy in cancer genomics that involves sequencing both tumor tissue and matched normal tissue (typically blood or adjacent normal tissue) from the same patient to distinguish somatic mutations from germline variants. This approach enables accurate identification of cancer-specific genetic alterations by filtering out constitutional genetic variants present in the patient's germline genome. Tumor-normal pairing is essential for comprehensive genomic profiling as it improves the accuracy of somatic mutation calling, reduces false positive results from technical artifacts or common polymorphisms, enables detection of loss of heterozygosity events, and facilitates copy number analysis by providing a diploid reference. The quality of tumor-normal pairing depends on factors such as tissue purity, DNA quality, and the genetic relatedness between compared samples.
Usage
Usage note: Gold standard approach for somatic mutation detection in research settings.
In Context
- "Tumor-normal pairing revealed 127 high-confidence somatic mutations in the pancreatic adenocarcinoma." — Genomic analysis report
- "The laboratory requires tumor-normal pairing for all comprehensive genomic profiling studies." — Laboratory protocol