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PhyliCS: a Python library to explore scCNA data and quantify spatial tumor heterogeneity.

Marilisa Montemurro1, Elena Grassi2,3, Carmelo Gabriele Pizzino2,3

  • 1Department of Control and Computer Science, Politecnico di Torino, C.so Duca degli Abruzzi 24, 10129, Turin, Italy. marilisa.montemurro@polito.it.

BMC Bioinformatics
|July 4, 2021
PubMed
Summary
This summary is machine-generated.

PhyliCS analyzes single-cell copy number aberrations to reveal spatial patterns within tumors. This tool helps determine if cancer cell clones are mixed or separated, advancing intra-tumor heterogeneity research.

Keywords:
AlgorithmsCancer evolutionClonesDNAIntra-tumor heterogeneitySingle-cell sequencing

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Area of Science:

  • Oncology
  • Genomics
  • Bioinformatics

Background:

  • Tumors exhibit intra-tumor heterogeneity (ITH) due to distinct cancer cell subpopulations (subclones).
  • Copy Number Aberrations (CNAs) are key indicators of ITH.
  • Single-cell DNA (scDNA) sequencing offers high-resolution ITH analysis, but dedicated tools for spatial distribution are needed.

Purpose of the Study:

  • To introduce PhyliCS, the first tool for analyzing spatial heterogeneity in tumors using multi-sample single-cell CNA data.
  • To provide a method for distinguishing between spatially intermixed and segregated cancer cell clones.

Main Methods:

  • PhyliCS processes single-cell CNA profiles from multiple tumor samples.
  • It computes a Spatial Heterogeneity score to quantify clone distribution.
  • Includes feature selection, dimensionality reduction, visualization, and clustering for scDNA analysis.

Main Results:

  • PhyliCS enables the estimation of spatial distribution of cancer subclones within a tumor.
  • The tool quantifies spatial heterogeneity by differentiating between mixed and segregated clones.

Conclusions:

  • PhyliCS is a valuable tool for exploring spatial heterogeneity in multi-regional tumor samples.
  • It effectively leverages single-cell CNA data to understand tumor composition.