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README.md

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@@ -4,9 +4,17 @@ COpy number and Mutations Phylogeny from Amplicon Single-cell Sequencing
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This tool can be used to infer a tree of somatic events (mutations, copy number variants and copy-neutral loss of heterozygosity) that occurred in a tumor. It is specifically designed to be used for MissionBio's Tapestri data, where a small number of amplicons (50-300) are sequenced for thousands of single-cells.
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## Compilation
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## Quick start
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```
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git clone https://github.com/cbg-ethz/COMPASS.git
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cd COMPASS
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make
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./COMPASS -i data/AML-59-001 -o tree_AML-59-001.gv --nchains 4 --chainlength 5000 --CNV 1
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dot -Tpng -o tree_AML-59-001.png tree_AML-59-001.gv
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```
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Graphviz is required in order to plot the tree, which can be installed on Ubuntu by running `sudo apt-get install graphviz `
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A makefile is provided. Alternatively, COMPASS can be compiled by simply running `g++ -std=c++11 -O2 -fopenmp *.cpp -o COMPASS`
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## Usage
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* [sample_name]_variants.csv: each line corresponds to a variant. The first columns contain metadata and the remaining columns contain the counts of reference reads and alternative reads, separated by ":", for each cell.
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* [sample_name]_regions.csv: each line corresponds to a region (typically, a gene). The first column is CHR_REGIONNAME, and the remaining columns contain the number of reads in this region, for each cell. This file is only required in case CNVs are used (--CNV 1).
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The `data` directory contains an example synthetic input. The `Experiments` directory contains scripts used to preprocess the loom files generated by the Tapestri pipeline, as well as workflows used to run simulations on synthetic data.
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The `data` directory contains an example synthetic input, as well as two preprocessed real AML samples. The `Experiments` directory contains scripts used to preprocess the loom files generated by the Tapestri pipeline, as well as workflows used to run simulations on synthetic data.

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