Identifying evolutionary trees and substitution parameters for the general Markov model with invariable sites

Abstract

The general Markov plus invariable sites (GM+I) model of biological sequence evolution is a two-class model in which an unknown proportion of sites are not allowed to change, while the remainder undergo substitutions according to a Markov process on a tree. For statistical use it is important to know if the model is identifiable; can both the tree topology and the numerical parameters be determined from a joint distribution describing sequences only at the leaves of the tree? We establish that for generic parameters both the tree and all numerical parameter values can be recovered, up to clearly understood issues of `label swapping.' The method of analysis is algebraic, using phylogenetic invariants to study the variety defined by the model. Simple rational formulas, expressed in terms of determinantal ratios, are found for recovering numerical parameters describing the invariable sites.