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Fine Mapping of Disease Genes Using Tagging SNPs

Sjölander, Arvid; Hössjer, Ola LU ; Werner Hartman, Linda LU and Humphreys, Keith (2007) In Annals of Human Genetics 71(6). p.815-827
Abstract
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.
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
association, Bayesian inference, haplotype clustering
in
Annals of Human Genetics
volume
71
issue
6
pages
815 - 827
publisher
Wiley-Blackwell
external identifiers
  • WOS:000249923200014
  • Scopus:34948861644
ISSN
1469-1809
DOI
10.1111/j.1469-1809.2007.00379.x
language
English
LU publication?
yes
id
69076211-f099-4727-ae13-32da1bd7292b (old id 754719)
date added to LUP
2008-01-02 15:39:48
date last changed
2017-01-01 07:57:07
@article{69076211-f099-4727-ae13-32da1bd7292b,
  abstract     = {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.},
  author       = {Sjölander, Arvid and Hössjer, Ola and Werner Hartman, Linda and Humphreys, Keith},
  issn         = {1469-1809},
  keyword      = {association,Bayesian inference,haplotype clustering},
  language     = {eng},
  number       = {6},
  pages        = {815--827},
  publisher    = {Wiley-Blackwell},
  series       = {Annals of Human Genetics},
  title        = {Fine Mapping of Disease Genes Using Tagging SNPs},
  url          = {http://dx.doi.org/10.1111/j.1469-1809.2007.00379.x},
  volume       = {71},
  year         = {2007},
}