Inferring epidemiological links from deep sequencing data: a statistical learning approach for human, animal and plant diseases

Philos Trans R Soc Lond B Biol Sci. 2019 Jun 24;374(1775):20180258. doi: 10.1098/rstb.2018.0258.


Pathogen sequence data have been exploited to infer who infected whom, by using empirical and model-based approaches. Most of these approaches exploit one pathogen sequence per infected host (e.g. individual, household, field). However, modern sequencing techniques can reveal the polymorphic nature of within-host populations of pathogens. Thus, these techniques provide a subsample of the pathogen variants that were present in the host at the sampling time. Such data are expected to give more insight on epidemiological links than a single sequence per host. In general, a mechanistic viewpoint to transmission and micro-evolution has been followed to infer epidemiological links from these data. Here, we investigate an alternative approach grounded on statistical learning. The idea consists of learning the structure of epidemiological links with a pseudo-evolutionary model applied to training data obtained from contact tracing, for example, and using this initial stage to infer links for the whole dataset. Such an approach has the potential to be particularly valuable in the case of a risk of erroneous mechanistic assumptions, it is sufficiently parsimonious to allow the handling of big datasets in the future, and it is versatile enough to be applied to very different contexts from animal, human and plant epidemiology. This article is part of the theme issue 'Modelling infectious disease outbreaks in humans, animals and plants: approaches and important themes'. This issue is linked with the subsequent theme issue 'Modelling infectious disease outbreaks in humans, animals and plants: epidemic forecasting and control'.

Keywords: contact information; infectious disease; pathogen spread; training data; transmission trees; within-host pathogen diversity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animal Diseases / epidemiology*
  • Animal Diseases / virology
  • Animals
  • Communicable Diseases / epidemiology*
  • Communicable Diseases / veterinary*
  • Communicable Diseases / virology
  • Databases, Genetic
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Models, Statistical
  • Molecular Sequence Annotation
  • Plant Diseases / statistics & numerical data*
  • Viruses / classification
  • Viruses / genetics*
  • Viruses / isolation & purification

Associated data

  • figshare/10.6084/m9.figshare.c.4450355