Evaluating the ability of the pairwise joint site frequency spectrum to co-estimate selection and demography

Lisha A. Mathew, Jeffrey Jensen

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

The ability to infer the parameters of positive selection from genomic data has many important implications, from identifying drug-resistance mutations in viruses to increasing crop yield by genetically integrating favorable alleles. Although it has been well-described that selection and demography may result in similar patterns of diversity, the ability to jointly estimate these two processes has remained elusive. Here, we use simulation to explore the utility of the joint site frequency spectrum to estimate selection and demography simultaneously, including developing an extension of the previously proposed Jaatha program (Mathew et al., 2013). We evaluate both complete and incomplete selective sweeps under an isolation-with-migration model with and without population size change (both population growth and bottlenecks). Results suggest that while it may not be possible to precisely estimate the strength of selection, it is possible to infer the presence of selection while estimating accurate demographic parameters. We further demonstrate that the common assumption of selective neutrality when estimating demographic models may lead to severe biases. Finally, we apply the approach we have developed to better characterize the within-host demographic and selective history of human cytomegalovirus (HCMV) infection using published next generation sequencing data.

Original languageEnglish (US)
Article number268
JournalFrontiers in Genetics
Volume6
Issue numberAug
DOIs
StatePublished - 2015
Externally publishedYes

Keywords

  • Genetic hitchhiking
  • Joint estimation
  • Joint site frequency spectrum
  • Positive selection
  • Selection and demography

ASJC Scopus subject areas

  • Genetics
  • Molecular Medicine
  • Genetics(clinical)

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