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icelu committed May 16, 2023
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9 changes: 6 additions & 3 deletions README.md
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Expand Up @@ -2,13 +2,16 @@ Copy Number Evolutionary Tree Analysis
=============

# Introduction
This repository contains a set of programs to simulate and build phylogenetic trees from copy number alterations (CNAs) in tumour genomes from multiple samples of a patient.
This repository contains a set of programs to simulate and build phylogenetic trees from copy number alterations (CNAs) detected from whole genome sequencing of multiple samples of a patient.

There are mainly 3 programs:
* cnets: simulating CNAs along a phylogenetic (coalescence) tree
* cnetml: building phylogenetic trees from copy numbers with maximum likelihood approach
* cnetml: building phylogenetic trees from copy numbers with maximum likelihood approach, capable of jointly inferring the tree topoloy, node ages, and muation rates from total copy number of longitudinal samples
* cnetmcmc (still under development): building phylogenetic trees from copy numbers with Bayesian MCMC approach

The first two programs are described in the paper:
- [Lu B, Curtius K, Graham TA, Yang Z, Barnes CP. CNETML: Maximum likelihood inference of phylogeny from copy number profiles of spatio-temporal samples. bioRxiv. 2022 Mar 20:2022-03.](https://www.biorxiv.org/content/10.1101/2022.03.18.484889v1)


# Installation
This package is mostly written in C++. There are a few scripts written in R and Python, for plotting and text processing.
Expand Down Expand Up @@ -187,7 +190,7 @@ For whole genome doubling, chr is assigned to 0 and seg_ID is assigned to -1.

# Tree building with cnetml

cnetml is a new maximum likelihood method based on a novel evolutionary model of CNAs to infer phylogenies from spatio-temporal samples taken within a single patient.
cnetml is a new maximum likelihood method based on a novel evolutionary model of CNAs to infer phylogenies from multiple samples taken within a single patient.


There are 4 running modes in cnetml.
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4 changes: 2 additions & 2 deletions code/cnetml.cpp
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Expand Up @@ -1131,8 +1131,8 @@ int main(int argc, char** const argv){

// mutation rates
("mu,x", po::value<double>(&mu)->default_value(0.02), "overall mutation rate")
("dup_rate", po::value<double>(&dup_rate)->default_value(0.01), "duplication rate")
("del_rate", po::value<double>(&del_rate)->default_value(0.01), "deletion rate")
("dup_rate", po::value<double>(&dup_rate)->default_value(0.001), "duplication rate")
("del_rate", po::value<double>(&del_rate)->default_value(0.001), "deletion rate")
("chr_gain_rate", po::value<double>(&chr_gain_rate)->default_value(0), "chromosome gain rate")
("chr_loss_rate", po::value<double>(&chr_loss_rate)->default_value(0), "chromosome loss rate")
("wgd_rate", po::value<double>(&wgd_rate)->default_value(0), "WGD (whole genome doubling) rate")
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2 changes: 1 addition & 1 deletion code/common.hpp
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Expand Up @@ -51,7 +51,7 @@ const int WGD_CUTOFF = 3; // genome ploidy to determine WGD
// key: chr, seg, copy_number
typedef map<int, map<int, int>> copy_number;

const string VERSION = "0.1";
const string VERSION = "1.0";


// read-only
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