Fine Mapping of Disease Genes Using Tagging SNPs

Research output: Contribution to journalArticle


We describe a haplotype clustering approach for localising a disease mutation within a fixed genomic region, which supplements tagging SNP (tSNP) information with (external) information on linkage disequilibrium. By applying our method to simulated data based on the coalescent, and on real haplotype data, we demonstrate that there are situations where significant gains can be made by incorporating tagged SNPs into the analysis. The issues we explore are important not only to these types of studies, but also to studies that select tSNPs based on (external) HapMap phase II data, and those that use genome-wide markers.


  • Arvid Sjölander
  • Ola Hössjer
  • Linda Werner Hartman
  • Keith Humphreys
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Probability Theory and Statistics


  • association, Bayesian inference, haplotype clustering
Original languageEnglish
Pages (from-to)815-827
JournalAnnals of Human Genetics
Issue number6
Publication statusPublished - 2007
Publication categoryResearch

Bibliographic note

Author list should read Arvid Sjölander, Ola Hössjer, Linda Werner Hartman and Keith Humphreys