Genomics 101 (cancer)
Genomics studies the full DNA blueprint of cells: sequence variants, copy-number changes, and structural rearrangements. In oncology it drives diagnosis, targeted therapy, and resistance monitoring.
What you measure
- SNVs and indels in coding and regulatory regions
- Copy-number alterations (CNAs) and loss of heterozygosity
- Structural variants (SVs) and gene fusions
- Tumor vs germline: somatic vs inherited variants (germline matters for hereditary cancer syndromes)
Common assay modes
| Mode | Typical use |
|---|---|
| Targeted panel | Known cancer genes; high depth; clinical reporting |
| Whole-exome (WES) | Coding regions; research and some clinical workflows |
| Whole-genome (WGS) | SVs, non-coding drivers, comprehensive view |
| ctDNA (liquid biopsy) | Minimal residual disease, resistance, monitoring |
From files to interpretation
Pair this overview with the workflow guide From FASTQ to variants and data access patterns in Data & APIs.