Somatic Copy Number Alteration Analysis Pipeline
A pure-Python pipeline for somatic CNA analysis including CBS segmentation, ploidy/purity estimation, and NMF signature extraction.
- Segmentation (Circular Binary Segmentation, CBS-style)
- Ploidy and purity estimation (grid search optimization)
- Focal vs arm-level CNA classification
- Aneuploidy score computation
- CNA signature extraction (NMF, 3 signatures)
- 100 tumors × 2000 genomic bins (500kb resolution)
- Mean estimated ploidy: 3.32 ± 1.15
- Mean aneuploidy score: 0.508 ± 0.152
- Total segments detected: 2155
- Median segment size: 10.0 Mb
pip install numpy scipy matplotlib
python copy_number_engine.pycopy-number aneuploidy chromosomal-instability cna-calling allele-specific cbs-segmentation