Accurate Non-parametric Estimation of Recent Effective Population Size from Segments of Identity by Descent

Am J Hum Genet. 2015 Sep 3;97(3):404-18. doi: 10.1016/j.ajhg.2015.07.012. Epub 2015 Aug 20.


Existing methods for estimating historical effective population size from genetic data have been unable to accurately estimate effective population size during the most recent past. We present a non-parametric method for accurately estimating recent effective population size by using inferred long segments of identity by descent (IBD). We found that inferred segments of IBD contain information about effective population size from around 4 generations to around 50 generations ago for SNP array data and to over 200 generations ago for sequence data. In human populations that we examined, the estimates of effective size were approximately one-third of the census size. We estimate the effective population size of European-ancestry individuals in the UK four generations ago to be eight million and the effective population size of Finland four generations ago to be 0.7 million. Our method is implemented in the open-source IBDNe software package.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes / genetics*
  • Computer Simulation
  • Finland
  • Genetics, Population / methods*
  • Humans
  • Linkage Disequilibrium
  • Models, Genetic*
  • Pedigree
  • Polymorphism, Single Nucleotide / genetics
  • Population Density*
  • Software*
  • United Kingdom