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Quantifying differences in linkage disequilibrium (LD) between sub-groups can highlight genetic regions or sites under selection and/or associated with disease, and may have utility in trans-ethnic mapping studies.We present a novel pseudo Bayes factor (PBF) approach that assess differences in covariance of genotype frequencies from single nucleotide polymorphism (SNP) data from a genome-wide study. The magnitude of the PBF reflects the strength of evidence for a difference, while accounting for the sample size and number of SNPs, without the requirement for permutation testing to establish statistical significance. Application of the PBF to HapMap and Gambian malaria SNP data reveals regional LD differences, some known to be under selection.The PBF approach has been implemented in the BALD (Bayesian analysis of LD differences) C++ software, and is available from http://homepages.lshtm.ac.uk/tgclark/downloads.

Original publication

DOI

10.1093/bioinformatics/btq327

Type

Journal article

Journal

Bioinformatics (Oxford, England)

Publication Date

08/2010

Volume

26

Pages

1999 - 2003

Addresses

Department of Epidemiology and Public Health, London School of Hygiene and Tropical Medicine, London, UK. taane.clark@lshtm.ac.uk

Keywords

Humans, Bayes Theorem, Sample Size, Genotype, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Genome, Software, Genome-Wide Association Study