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README.md
<!-- README.md is generated from README.Rmd. Please edit that file --> # CBN2Path <!-- badges: start --> [![DOI](https://zenodo.org/badge/834694658.svg)](https://zenodo.org/badge/latestdoi/834694658) <!-- badges: end --> ## Authors William Choi-Kim and Sayed-Rzgar Hosseini ## Abstract Tumorigenesis is a stepwise process that is driven by a sequence of molecular changes forming pathways of cancer progression. Conjunctive Bayesian Networks are probabilistic-graphical models designed for the analysis and modeling of these pathways \[1\]. CBN models have evolved into different varieties such as CT-CBN \[2\], H-CBN \[3\], B-CBN \[4\] and R-CBN \[5\] each addressing different aspects of this task. However, the software corresponding to these methods are not well-integrated as they are implemented in different languages with heterogeneous input and output formats. This necessitates a unifying platform that integrates these models and enables standardization of the input and output formats to facilitate the downstream pathway analysis and modeling. Evam-tools \[6\] is an R package, which has taken the initial steps towards this end. However, it partially serves this purpose, as it does not include the B-CBN model and the recently developed R-CBN algorithm, which focuses on the robust inference of cancer progression pathways \[5\]. Importantly, the B-CBN and R-CBN algorithms for pathway quantification require exhaustive consideration and weighting of all the potential dependency structures (posets) within mutational quartets. This entails re-implementation of the CBN models and adjustment of the downstream pathway analysis and modeling functions. Therefore, here we introduce **CBN2Path** R package that not only includes the original implementation of the CBN models (e.g. CT-CBN and H-CBN) in a unifying interface, but it also accommodates the necessary modifications to support the robust CBN algorithms (e.g. B-CBN and R-CBN). In summary, CBN2Path is an R package that supports robust quantification, analysis and visualization of cancer progression pathways from cross-sectional genomic data, and so we anticipate that it will be a widely-used package in the future. ## Installation ### GSL To install the `CBN2Path` R package, you first need to install the `gsl`: **Install GSL with homebrew on Mac:** *If you don’t have homebrew, run the following command in your terminal/console:* ``` bash /bin/bash -c "$(curl -fsSL https://raw.githubusercontent.com/Homebrew/install/HEAD/install.sh)" ``` Then, also in terminal: ``` bash brew install gsl ``` Note that if `gsl` was installed using any method other than Homebrew, you need to uninstall `gsl`, and then reinstall it using Homebrew (see <https://brew.sh> if you have not installed Homebrew yet). **Install GSL on Linux:** In your shell: ``` bash sudo apt-get install libgsl-dev ``` **On Linux, if the `ggraph` dependency fails, run the following in your shell:** ``` bash sudo apt install libfontconfig1-dev ``` This appears to fix a sysfonts issue. We’re not sure why this is necessary. **On Windows, we suggest installing RTools (which includes a distribution of GSL):** Download RTools from [here](https://cran.r-project.org/bin/windows/Rtools/) and proceed with installation. ### Package Install **Make sure to restart R before proceeding.** Then, you can install the development version of `CBN2Path` by running the following in R: **Linux and Mac** ``` r remotes::install_github("rockwillck/CBN2Path", build_vignettes = TRUE) ``` **Windows** ``` r remotes::install_github("rockwillck/CBN2Path", build_vignettes = FALSE) ``` ## Windows Support Windows support for `CBN2Path` is **limited**. Functions will be missing key functionality; the CBN models developed at ETH-Zurich that `CBN2Path` is based on don’t support Windows inherently. ## Usage To learn how to use different CBN models and their associated pathway analysis and visualization functions in the `CBN2Path` R package, please run: ``` r vignette("CBN2Path") ``` ## Cite our work If you use the CBN2Path package, please cite the paper formally as follows: Choi-Kim W and Hosseini SR. CBN2Path: an R/Bioconductor package for the analysis of cancer progression pathways using Conjunctive Bayesian Networks. F1000Research 2025, 14:834 (https://doi.org/10.12688/f1000research.168810.1). ## References \[1\] Beerenwinkel, et al. Conjunctive Bayesian Networks. Bernoulli, 13(4):893–909, November 2007. ISSN 1350-7265. doi: <https://doi.org/10.3150/07-BEJ6133>. \[2\] Beerenwinkel and Sullivant. Markov models for accumulating mutations. Biometrika, 96 (3):645–661, September 2009. ISSN 0006-3444, 1464-3510. doi: <https://doi.org/10.1093/biomet/asp023>. \[3\] Gerstung, et al. Quantifying cancer progression with conjunctive Bayesian networks. Bioinformatics (Oxford, England), 25(21):2809–2815, November 2009. doi: <https://doi.org/10.1093/bioinformatics/btp505>. \[4\] Sakoparnig and Beerenwinkel. Efficient sampling for Bayesian inference of conjunctive Bayesian networks. Bioinformatics, 28(18):2318–2324, September 2012. ISSN 1367-4811, 1367-4803. doi: <https://doi.org/10.1093/bioinformatics/bts433>. \[5\] Hosseini. Robust inference of cancer progression pathways using Conjunctive Bayesian Networks, BioRxiv. July 2025. doi: <https://doi.org/10.1101/2025.07.15.663924>. \[6\] Diaz-Uriarte and Herrera-Nieto. EvAM-Tools: tools for evolutionary accumulation and cancer progression models. Bioinformatics, 38(24): 5457–5459, December 2022. ISSN 1367-4803, 1367-4811. doi: <https://doi.org/10.1093/bioinformatics/btac710>. \[7\] Hosseini, et al. Estimating the predictability of cancer evolution. Bioinformatics, 35 (14):i389–i397, July 2019. ISSN 1367-4803, 1367-4811. doi: <https://doi.org/10.1093/bioinformatics/btz332>.