Linkage disequilibrium maps and disease-association mapping


Maniatis, Nikolas (2008) Linkage disequilibrium maps and disease-association mapping. In, Collins, Andrew R. (ed.) Linkage Disequilibrium and Association Mapping: Analysis and Applications. Totowa, USA, Humana, 109-121. (Methods in Molecular Biology, 376). (doi:10.1007/978-1-59745-389-9_8).

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Description/Abstract

Over the last few years, association mapping of disease genes has developed into one of the most dynamic research areas of human genetics. It focuses on identifying functional polymorphisms that predispose to complex diseases. Population-based approaches are concerned with exploiting linkage disequilibrium (LD) between single-nucleotide polymorphism (SNPs) and disease-predisposing loci. The utility of SNPs in association mapping is now well established and the interest in this field has been escalated by the discovery of millions of SNPs across the genome. This chapter reviews an association-mapping method that utilizes metric LD maps in LD units and employs a composite likelihood approach to combine information from all single SNP tests. It applies a model that incorporates a parameter for the location of the causal polymorphism. A proof-of-principle application of this method to a small region is given and its potential properties to large-scale datasets are discussed.

Item Type: Book Section
Additional Information: ISSN 1064-3745
ISBNs: 9781588296696 (hardback)
Related URLs:
Keywords: association mapping, linkage disequilibrium, ldu, single snps, cyp2d6
Subjects: R Medicine > RB Pathology
Q Science > QH Natural history > QH426 Genetics
Divisions: University Structure - Pre August 2011 > School of Medicine
Item ID: 60022
Date Deposited: 07 Oct 2008
Last Modified: 02 Mar 2012 12:32
Contributors: Maniatis, Nikolas (Author)
Collins, Andrew R. (Editor)
Date: 5 February 2008
Additional Information: ISSN 1064-3745
Status: Published
Publisher: Humana
URI: http://eprints.soton.ac.uk/id/eprint/60022

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