Jouniaux, A. | Search bioRxiv

bioRxiv2024

Extending the IICR to complex non-stationary structured models

Population genetic studies use genetic data to understand aspects of the evolutionary history of species, particularly to infer their demography. Here, we extend the non-stationary structured coalescent framework to complex models where the parameters of the model, and thus the state space, change between stationary periods. To do this, we introduce glue matrices that allow us to map one state space to another, hence enabling the computation of the Inverse Instantaneous Coalescence Rate (IICR) using Q-matrices of different dimensions. This approach allows us to study models where the number of demes changes due to extinction or foundation. Our analysis confirms that interpreting IICR curves as indicators of population size changes can be misleading. However, we also show that there are cases where new deme foundations can generate an increase in the IICR (forward in time). We explore the impact of changes in migration rates, timing of deme creation or deletion, and sampling strategies on the IICR, identifying several counter-intuitive results. For instance, we find that the IICR starts to decrease several generations before any change in the number of demes, as if the population "knew" something was about to happen. It is particularly unexpected when a deme is founded and the population is only increasing. Our results underscore the need for careful interpretation of PSMC and similar curves, which are often used and interpreted as population size changes. By presenting examples of IICRs for various transitions and sampling scenarios, we emphasize the importance of nuanced approaches in population genetic studies.

evolutionary biology↗

bioRxiv2024

Extending the IICR to multiple genomes and identification of limitations of some demographic inferential methods

Reconstructing the demographic history of populations and species is one of the greatest challenges facing population geneticists. [50] introduced, for a sample of size k = 2 haploid genomes, a time- and sample-dependent parameter which they called the IICR (inverse instantaneous coalescence rate). Here we extend their work to larger sample sizes and focus on Tk, the time to the first coalescence event in a haploid sample of size k where k [≥] 2. We define the IICRk as the Inverse Instantaneous Coalescence Rate among k lineages. We show that (i) under a panmictic population [Formula] is equivalent to Ne, (ii) the IICRk can be obtained by either simulating Tk values or by using the Q-matrix approach of [61] and we provide the corresponding Python and R scripts. We then study the properties of the [Formula] under a limited set of n-island and stepping-stone models. We show that (iii) in structured models the [Formula] is dependent on the sample size and on the sampling scheme, even when the genomes are sampled in the same deme. For instance, we find that [Formula] plots for individuals sampled in the same deme will be shifted towards recent times with a lower plateau as k increases. We thus show that (iv) the [Formula] cannot be used to represent "the demographic history" in a general sense, (v) the [Formula] can be estimated from real or simulated genomic data using the PSMC/MSMC methods [44, 65] (vi) the MSMC2 method produces smoother curves that infer something that is not the [Formula], but are close to the [Formula] in the recent past when all samples are obtained from the same deme. Altogether we argue that the PSMC, MSMC and MSMC2 plots are not expected to be identical even when the genomes are sampled from the same deme, that none can be said to represent the "demographic history of populations" and that they should be interpreted with care. We suggest that the PSMC, MSMC and MSMC2 could be used together with the [Formula] to identify the signature of population structure, and to develop new strategies for model choice.

evolutionary biology↗