Inference of gain and loss events from phyletic patterns using stochastic mapping and maximum parsimony-A simulation study

Ofir Cohen, Tal Pupko

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Bacterial evolution is characterized by frequent gain and loss events of gene families. These events can be inferred from phyletic pattern data-a compact representation of gene family repertoire across multiple genomes. The maximum parsimony paradigm is a classical and prevalent approach for the detection of gene family gains and losses mapped on specific branches. We and others have previously developed probabilistic models that aim to account for the gain and loss stochastic dynamics. These models are a critical component of a methodology termed stochastic mapping, in which probabilities and expectations of gain and loss events are estimated for each branch of an underlying phylogenetic tree. In this work, we present a phyletic pattern simulator in which the gain and loss dynamics are assumed to follow a continuous-time Markov chain along the tree. Various models and options are implemented to make the simulation software useful for a large number of studies in which binary (presence/absence) data are analyzed. Using this simulation software, we compared the ability of the maximum parsimony and the stochastic mapping approaches to accurately detect gain and loss events along the tree. Our simulations cover a large array of evolutionary scenarios in terms of the propensities for gene family gains and losses and the variability of these propensities among gene families. Although in all simulation schemes, both methods obtain relatively low levels of false positive rates, stochastic mapping outperforms maximum parsimony in terms of true positive rates. We further studied the factors that influence the performance of both methods. We find, for example, that the accuracy of maximum parsimony inference is substantially reduced when the goal is to map gain and loss events along internal branches of the phylogenetic tree. Furthermore, the accuracy of stochastic mapping is reduced with smaller data sets (limited number of gene families) due to unreliable estimation of branch lengths. Our simulator and simulation results are additionally relevant for the analysis of other types of binary-coded data, such as the existence of homologues restriction sites, gaps, and introns, to name a few. Both the simulation software and the inference methodology are freely available at a user-friendly server:

Original languageEnglish
Pages (from-to)1265-1275
Number of pages11
JournalGenome Biology and Evolution
Issue number1
StatePublished - 1 Dec 2011
Externally publishedYes


  • Evolutionary models
  • Maximum parsimony
  • Phyletic pattern
  • Stochastic mapping

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics


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