A tutorial on statistical methods for population association studies

Nat Rev Genet. 2006 Oct;7(10):781-91. doi: 10.1038/nrg1916.


Although genetic association studies have been with us for many years, even for the simplest analyses there is little consensus on the most appropriate statistical procedures. Here I give an overview of statistical approaches to population association studies, including preliminary analyses (Hardy-Weinberg equilibrium testing, inference of phase and missing data, and SNP tagging), and single-SNP and multipoint tests for association. My goal is to outline the key methods with a brief discussion of problems (population structure and multiple testing), avenues for solutions and some ongoing developments.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Genetics, Medical / methods*
  • Genetics, Population / methods*
  • Genome, Human / genetics
  • Genotype
  • Haplotypes
  • Humans
  • Polymorphism, Single Nucleotide / genetics
  • Statistics as Topic / methods*