@misc{10481/31189, year = {2007}, url = {http://hdl.handle.net/10481/31189}, abstract = {[Background] The maximum likelihood estimator of D' – a standard measure of linkage disequilibrium – is biased toward disequilibrium, and the bias is particularly evident in small samples and rare haplotypes. [Results] This paper proposes a Bayesian estimation of D' to address this problem. The reduction of the bias is achieved by using a prior distribution on the pair-wise associations between single nucleotide polymorphisms (SNP)s that increases the likelihood of equilibrium with increasing physical distances between pairs of SNPs. We show how to compute the Bayesian estimate using a stochastic estimation based on MCMC methods, and also propose a numerical approximation to the Bayesian estimates that can be used to estimate patterns of LD in large datasets of SNPs. [Conclusion] Our Bayesian estimator of D' corrects the bias toward disequilibrium that affects the maximum likelihood estimator. A consequence of this feature is a more objective view about the extent of linkage disequilibrium in the human genome, and a more realistic number of tagging SNPs to fully exploit the power of genome wide association studies.}, organization = {Research supported by NIH/NHLBI grant R21 HL080463-01, NIH/NIDDK 1R01DK069646-01A1 and the Spanish research program [projects TIN2004-06204-C03-02 and TIN2005-02516].}, publisher = {Biomed Central}, keywords = {Bayes theorem}, keywords = {Haplotypes}, keywords = {Human genome project}, keywords = {Humans}, keywords = {Likelihood functions}, keywords = {Linkage disequilibrium}, keywords = {Models}, keywords = {Genetic}, keywords = {Polymorphism}, keywords = {Single nucleotide}, title = {Bayesian estimates of linkage disequilibrium}, author = {Sebastiani, Paola and Abad Grau, María Del Mar}, }