Zhukova Anna, Gascuel Olivier
G5 Evolutionary Dynamics of Infectious Diseases, Institut Pasteur, Université de Paris, Paris, France.
Bioinformatics and Biostatistics Hub, Institut Pasteur, Université de Paris, Paris, France.
PLoS Comput Biol. 2025 May 29;21(5):e1012461. doi: 10.1371/journal.pcbi.1012461. eCollection 2025 May.
Phylodynamics bridges the gap between classical epidemiology and pathogen genome sequence data by estimating epidemiological parameters from time-scaled pathogen phylogenetic trees. The models used in phylodynamics typically assume that the sampling procedure is independent between infected individuals. However, this assumption does not hold for many epidemics, in particular for such sexually transmitted infections as HIV-1, for which contact tracing schemes are included in health policies of many countries. We extended phylodynamic multi-type birth-death (MTBD) models with contact tracing (CT), and developed a simulator to generate trees under MTBD and MTBD-CT models. We proposed a non-parametric test for detecting contact tracing in pathogen phylogenetic trees. Its application to simulated data showed that it is both highly specific and sensitive. For the simplest representative of the MTBD-CT family, the BD-CT(1) model, where only the last contact can be notified, we solved the differential equations and proposed a closed form solution for the likelihood function. We implemented a maximum-likelihood program, which estimates the BD-CT(1) model parameters and their confidence intervals from phylogenetic trees. It performed accurate parameter inference on BD and BD-CT(1) simulated data, and detected contact tracing in HIV-1 B epidemics in Zurich and the UK. Importantly, we showed that not accounting for contact tracing when it is present, leads to bias in parameter estimation with the BD model (overestimation of the becoming-non-infectious rate). This bias is also present, but greatly reduced, when the BD-CT(1) model is used on data where multiple contacts can be notified. Our CT test, MTBD-CT tree simulator and BD-CT(1) parameter estimator are freely available at GitHub (evolbioinfo/treesimulator and evolbioinfo/bdct).
系统发育动力学通过从时间尺度的病原体系统发育树估计流行病学参数,弥合了经典流行病学与病原体基因组序列数据之间的差距。系统发育动力学中使用的模型通常假设感染个体之间的采样过程是独立的。然而,这一假设在许多流行病中并不成立,特别是对于像HIV-1这样的性传播感染,许多国家的卫生政策中都包含接触者追踪计划。我们用接触者追踪(CT)扩展了系统发育动力学多类型出生-死亡(MTBD)模型,并开发了一个模拟器,以在MTBD和MTBD-CT模型下生成树。我们提出了一种用于检测病原体系统发育树中接触者追踪的非参数检验。其在模拟数据上的应用表明它具有高度的特异性和敏感性。对于MTBD-CT家族最简单的代表模型,即BD-CT(1)模型,其中只有最后一次接触可以被通知,我们求解了微分方程,并为似然函数提出了一个封闭形式的解。我们实现了一个最大似然程序,该程序从系统发育树估计BD-CT(1)模型参数及其置信区间。它对BD和BD-CT(1)模拟数据进行了准确的参数推断,并在苏黎世和英国的HIV-1 B流行病中检测到了接触者追踪。重要的是,我们表明,当存在接触者追踪时不加以考虑,会导致BD模型参数估计出现偏差(非感染率的高估)。当BD-CT(1)模型用于可以通知多次接触的数据时,这种偏差也存在,但大大减少了。我们的CT检验、MTBD-CT树模拟器和BD-CT(1)参数估计器可在GitHub(evolbioinfo/treesimulator和evolbioinfo/bdct)上免费获取。