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 = 0.5*tumor_CN + 0.5*2, attenuating log2 signal. Tools like CNVki
[Description truncada. Veja o README completo no GitHub.]