SASC

SASC infers cancer progression from single-cell sequencing (SCS) data using simulated annealing to fit a Dollo-k parsimony model that permits accumulation and limited loss of mutations, thereby relaxing the Infinite Sites Assumption (ISA).


Key Features:

  • Simulated annealing optimization: Uses simulated annealing to explore complex solution spaces and identify optimal or near-optimal cancer progression models from SCS data.
  • Dollo-k parsimony model: Implements a Dollo-k parsimony extension that allows accumulation and limited loss of mutations during tumor evolution.
  • Relaxation of ISA: Explicitly relaxes the Infinite Sites Assumption (ISA) to accommodate recurrent mutation loss or reacquisition observed in tumor evolution.
  • Single-cell sequencing input: Operates on single-cell sequencing (SCS) data for inferring tumor phylogenies and mutation histories.
  • Empirical validation: Evaluated on simulated datasets and real-world samples, demonstrating higher accuracy than several other methods.
  • Alternative to ISA-constrained methods: Provides a phylogenetic inference approach that is not constrained by the ISA, supporting more realistic models of cancer progression.

Scientific Applications:

  • Cancer progression inference: Reconstruction of tumor evolutionary histories and mutation trajectories from single-cell sequencing data.
  • Phylogenetic reconstruction with mutation loss: Building tumor phylogenies under a Dollo-k framework that models limited mutation loss and recurrent events.
  • Study of tumor evolution: Analysis of cancer evolution and progression where mutation loss or reacquisition is relevant.

Methodology:

SASC applies simulated annealing optimization to fit a Dollo-k parsimony model that permits accumulation and limited loss of mutations from single-cell sequencing data.

Topics

Details

License:
MIT
Programming Languages:
C, Python
Added:
1/18/2021
Last Updated:
11/24/2024

Operations

Publications

Ciccolella S, Ricketts C, Soto Gomez M, Patterson M, Silverbush D, Bonizzoni P, Hajirasouliha I, Della Vedova G. Inferring cancer progression from Single-Cell Sequencing while allowing mutation losses. Bioinformatics. 2020;37(3):326-333. doi:10.1093/bioinformatics/btaa722. PMID:32805010. PMCID:PMC8058767.

PMID: 32805010
PMCID: PMC8058767
Funding: - Marie Skłodowska-Curie: 872539 - NIH: 1T32GM083937 - US National Science Foundation: IIS-1840275