Softwares and methods for estimating genetic ancestry in human populations

Hum Genomics. 2013 Jan 5;7(1):1. doi: 10.1186/1479-7364-7-1.


The estimation of genetic ancestry in human populations has important applications in medical genetic studies. Genetic ancestry is used to control for population stratification in genetic association studies, and is used to understand the genetic basis for ethnic differences in disease susceptibility. In this review, we present an overview of genetic ancestry estimation in human disease studies, followed by a review of popular softwares and methods used for this estimation.

Publication types

  • Review

MeSH terms

  • Algorithms
  • Computational Biology / methods
  • Gene Frequency
  • Genetic Association Studies / methods
  • Genetic Predisposition to Disease / genetics*
  • Genetics, Population / methods*
  • Genome, Human
  • Humans
  • Linkage Disequilibrium
  • Markov Chains
  • Pedigree*
  • Principal Component Analysis
  • Software*