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Open Access Highly Accessed Methodology article

Modelling and visualizing fine-scale linkage disequilibrium structure

David Edwards

Author Affiliations

Department of Molecular Biology and Genetics, Centre for Quantitative Genetics and Genomics, Blichers Allé 20, Tjele 8830, Denmark

BMC Bioinformatics 2013, 14:179  doi:10.1186/1471-2105-14-179

Published: 6 June 2013

Abstract

Background

Detailed study of genetic variation at the population level in humans and other species is now possible due to the availability of large sets of single nucleotide polymorphism data. Alleles at two or more loci are said to be in linkage disequilibrium (LD) when they are correlated or statistically dependent. Current efforts to understand the genetic basis of complex phenotypes are based on the existence of such associations, making study of the extent and distribution of linkage disequilibrium central to this endeavour. The objective of this paper is to develop methods to study fine-scale patterns of allelic association using probabilistic graphical models.

Results

An efficient, linear-time forward-backward algorithm is developed to estimate chromosome-wide LD models by optimizing a penalized likelihood criterion, and a convenient way to display these models is described. To illustrate the methods they are applied to data obtained by genotyping 8341 pigs. It is found that roughly 20% of the porcine genome exhibits complex LD patterns, forming islands of relatively high genetic diversity.

Conclusions

The proposed algorithm is efficient and makes it feasible to estimate and visualize chromosome-wide LD models on a routine basis.