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Fine Mapping of Disease Genes Using Tagging SNPs

Sjölander, Arvid ; Hössjer, Ola LU ; Werner Hartman, Linda LU orcid 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.
Please use this url to cite or link to this publication:
author
; ; and
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
  • pmid:17587339
ISSN
1469-1809
DOI
10.1111/j.1469-1809.2007.00379.x
language
English
LU publication?
yes
additional info
Author list should read Arvid Sjölander, Ola Hössjer, Linda Werner Hartman and Keith Humphreys
id
69076211-f099-4727-ae13-32da1bd7292b (old id 754719)
date added to LUP
2016-04-04 10:17:22
date last changed
2025-04-04 14:19:45
@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}},
  keywords     = {{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}},
  doi          = {{10.1111/j.1469-1809.2007.00379.x}},
  volume       = {{71}},
  year         = {{2007}},
}