Allelic association and disease mapping


Ennis, Sarah, Maniatis, Nikolas and Collins, Andrew (2001) Allelic association and disease mapping. Briefings in Bioinformatics, 2, (4), 375-387. (doi:10.1093/bib/2.4.375).

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Original Publication URL: http://dx.doi.org/10.1093/bib/2.4.375

Description/Abstract

The application of allelic association to map genes for complex traits, particularly using high-density maps of single nucleotide polymorphisms in candidate regions, is an area of very active research. Here we present some aspects of the methodology and applications to both major gene mapping, which illustrates the effectiveness of the method, and oligogenes, where methods are still in flux and for which there have been relatively few successes to date. Several important considerations emerge, including the selection of the optimal metric for measuring association and the importance of modelling the decline in association with distance given the variability in association in a candidate region. The Malecot model of association with distance is shown to have a resolution of greater than 50 kilobases but the available evidence suggests that considerably higher resolution might be achieved with dense single nucleotide polymorphism (SNP) maps.

Item Type: Article
ISSNs: 1467-5463 (print)
Related URLs:
Keywords: medical, genes, chromosome mapping, data interpretation, alleles, genetics, genetics, statistical, research, review, linkage disequilibrium, methods, humans, genotype, haplotypes, disease, case-control studies, epidemiology
Subjects: R Medicine > RB Pathology
Q Science > QH Natural history > QH426 Genetics
H Social Sciences > HA Statistics
Divisions: University Structure - Pre August 2011 > School of Medicine
ePrint ID: 59701
Date Deposited: 04 Sep 2008
Last Modified: 27 Mar 2014 18:41
Contact Email Address: arc@soton.ac.uk
URI: http://eprints.soton.ac.uk/id/eprint/59701

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