Population genetic inference from resequencing data

Genetics. 2009 Jan;181(1):187-97. doi: 10.1534/genetics.107.080630. Epub 2008 Nov 3.


This article is concerned with statistical modeling of shotgun resequencing data and the use of such data for population genetic inference. We model data produced by sequencing-by-synthesis technologies such as the Solexa, 454, and polymerase colony (polony) systems, whose use is becoming increasingly widespread. We show how such data can be used to estimate evolutionary parameters (mutation and recombination rates), despite the fact that the data do not necessarily provide complete or aligned sequence information. We also present two refinements of our methods: one that is more robust to sequencing errors and another that can be used when no reference genome is available.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Diploidy
  • Genetics, Population*
  • Genome, Human / genetics
  • Homozygote
  • Humans
  • Linkage Disequilibrium / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Sequence Analysis, DNA / methods*