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Allelic association and disease mapping

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

Record type: Article


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.

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Published date: 2001
Keywords: medical, genes, chromosome mapping, data interpretation, alleles, genetics, statistical, research, review, linkage disequilibrium, methods, humans, genotype, haplotypes, disease, case-control studies, epidemiology


Local EPrints ID: 59701
ISSN: 1467-5463
PURE UUID: f266e74e-d46a-4ce8-9259-53d343569b51
ORCID for Andrew Collins: ORCID iD

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Date deposited: 04 Sep 2008
Last modified: 17 Jul 2017 14:24

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Author: Sarah Ennis
Author: Nikolas Maniatis
Author: Andrew Collins ORCID iD

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