DNA Copy Number Analysis
Copy Number Reference
| Type | CN | Log2 ratio | Effect |
|---|---|---|---|
| Homozygous deletion | 0 | -inf | Gene loss |
| Heterozygous deletion | 1 | -1.0 | LOH if other allele mutated |
| Normal diploid | 2 | 0.0 | Baseline |
| Single-copy gain | 3 | +0.585 | Increased gene dosage |
| Amplification | 4+ | +1.0+ | Common in oncogenes (ERBB2, MYCN) |
Tumour purity: at 50% purity, effective CN = 0.5tumor_CN + 0.52, attenuating log2 signal. Tools like CNVki
[Description truncada. Veja o README completo no GitHub.]