diff --git a/README.md b/README.md index f420d56..2c40cec 100644 --- a/README.md +++ b/README.md @@ -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. @@ -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. diff --git a/code/cnetml.cpp b/code/cnetml.cpp index 750394d..1d48d9a 100644 --- a/code/cnetml.cpp +++ b/code/cnetml.cpp @@ -1131,8 +1131,8 @@ int main(int argc, char** const argv){ // mutation rates ("mu,x", po::value(&mu)->default_value(0.02), "overall mutation rate") - ("dup_rate", po::value(&dup_rate)->default_value(0.01), "duplication rate") - ("del_rate", po::value(&del_rate)->default_value(0.01), "deletion rate") + ("dup_rate", po::value(&dup_rate)->default_value(0.001), "duplication rate") + ("del_rate", po::value(&del_rate)->default_value(0.001), "deletion rate") ("chr_gain_rate", po::value(&chr_gain_rate)->default_value(0), "chromosome gain rate") ("chr_loss_rate", po::value(&chr_loss_rate)->default_value(0), "chromosome loss rate") ("wgd_rate", po::value(&wgd_rate)->default_value(0), "WGD (whole genome doubling) rate") diff --git a/code/common.hpp b/code/common.hpp index b7ffed9..e328262 100644 --- a/code/common.hpp +++ b/code/common.hpp @@ -51,7 +51,7 @@ const int WGD_CUTOFF = 3; // genome ploidy to determine WGD // key: chr, seg, copy_number typedef map> copy_number; -const string VERSION = "0.1"; +const string VERSION = "1.0"; // read-only