Ancestral recombinations graph: A reconstructability perspective using random-graphs framework

Abstract

We present a random graphs framework to study pedigree history in an ideal (Wright Fisher) population. This framework correlates the underlying mathematical objects in, for example, pedigree graph, mtDNA or NRY Chr tree, ARG (Ancestral Recombinations Graph), and HUD used in literature, into a single unified random graph framework. It also gives a natural definition, based solely on the topology, of an ARG, one of the most interesting as well as useful mathematical objects in this area. The random graphs framework gives an alternative parametrization of the ARG that does not use the recombination rate ρ and instead uses a parameter M based on the (estimate of ) the number of non-mixing segments in the extant units. This seems more natural in a setting that attempts to tease apart the population dynamics from the biology of the units. This framework also gives a purely topological definition of GMRCA, analogous to MRCA on trees (which has a purely topological description i.e., it is a root, graph-theoretically speaking, of a tree). Secondly, with a natural extension of the ideas from random-graphs we present a sampling (simulation) algorithm to construct random instances of ARG/unilinear transmission graph. This is the first (to the best of the author's knowledge) algorithm that guarantees uniform sampling of the space of ARG instances, reflecting the ideal population model. Finally, using a measure of reconstructability of the past historical events given a collection of extant sequences, we conclude for a given set of extant sequences, the joint history of local segments along a chromosome is reconstructible. © Mary Ann Liebert, Inc.