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CopyNumberEngine

Somatic Copy Number Alteration Analysis Pipeline

A pure-Python pipeline for somatic CNA analysis including CBS segmentation, ploidy/purity estimation, and NMF signature extraction.

Features

  • 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)

Results

  • 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

Usage

pip install numpy scipy matplotlib
python copy_number_engine.py

Tags

copy-number aneuploidy chromosomal-instability cna-calling allele-specific cbs-segmentation

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Somatic CNA analysis: CBS segmentation, ploidy/purity estimation, aneuploidy score, NMF signatures

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