Allelic association and disease mapping
Allelic association and disease mapping
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.
medical, genes, chromosome mapping, data interpretation, alleles, genetics, statistical, research, review, linkage disequilibrium, methods, humans, genotype, haplotypes, disease, case-control studies, epidemiology
375-387
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Maniatis, Nikolas
369fb005-aae0-4243-807b-b42af088debd
Collins, Andrew
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
2001
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Maniatis, Nikolas
369fb005-aae0-4243-807b-b42af088debd
Collins, Andrew
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Ennis, Sarah, Maniatis, Nikolas and Collins, Andrew
(2001)
Allelic association and disease mapping.
Briefings in Bioinformatics, 2 (4), .
(doi:10.1093/bib/2.4.375).
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.
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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
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Local EPrints ID: 59701
URI: http://eprints.soton.ac.uk/id/eprint/59701
ISSN: 1467-5463
PURE UUID: f266e74e-d46a-4ce8-9259-53d343569b51
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Date deposited: 04 Sep 2008
Last modified: 16 Mar 2024 03:07
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Author:
Nikolas Maniatis
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