title: Fine mapping of disease genes using tagging SNPs.
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.
authors.affiliation: Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden. Arvid.Sjolander@ki.se
authors.forename: Arvid
authors.initials: A
authors.lastname: Sjölander
authors.forename: Ola
authors.initials: O
authors.lastname: Hössjer
authors.forename: Linda Werner
authors.initials: LW
authors.lastname: Hartman
authors.forename: Keith
authors.initials: K
authors.lastname: Humphreys
mesh_terms: D000465:Algorithms; D001499:Bayes Theorem; D002874:Chromosome Mapping / Q000379:methods* / Q000706:statistics & numerical data; D016000:Cluster Analysis; D003198:Computer Simulation; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008957:Models, Genetic; D009154:Mutation; D020641:Polymorphism, Single Nucleotide
chemical_list: D005819:Genetic Markers