HAPGEN2: simulation of multiple disease SNPs

Bioinformatics. 2011 Aug 15;27(16):2304-5. doi: 10.1093/bioinformatics/btr341. Epub 2011 Jun 8.


Motivation: Performing experiments with simulated data is an inexpensive approach to evaluating competing experimental designs and analysis methods in genome-wide association studies. Simulation based on resampling known haplotypes is fast and efficient and can produce samples with patterns of linkage disequilibrium (LD), which mimic those in real data. However, the inability of current methods to simulate multiple nearby disease SNPs on the same chromosome can limit their application.

Results: We introduce a new simulation algorithm based on a successful resampling method, HAPGEN, that can simulate multiple nearby disease SNPs on the same chromosome. The new method, HAPGEN2, retains many advantages of resampling methods and expands the range of disease models that current simulators offer.

Availability: HAPGEN2 is freely available from http://www.stats.ox.ac.uk/~marchini/software/gwas/gwas.html.

Contact: zhan@well.ox.ac.uk

Supplementary information: Supplementary data are available at Bioinformatics online.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms*
  • Computer Simulation
  • Disease / genetics*
  • Genome-Wide Association Study*
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Polymorphism, Single Nucleotide*
  • Software