title: Genome-wide estimation of linkage disequilibrium from population-level high-throughput sequencing data.
abstract: Rapidly improving sequencing technologies provide unprecedented opportunities for analyzing genome-wide patterns of polymorphisms. In particular, they have great potential for linkage-disequilibrium analyses on both global and local genetic scales, which will substantially improve our ability to derive evolutionary inferences. However, there are some difficulties with analyzing high-throughput sequencing data, including high error rates associated with base reads and complications from the random sampling of sequenced chromosomes in diploid organisms. To overcome these difficulties, we developed a maximum-likelihood estimator of linkage disequilibrium for use with error-prone sampling data. Computer simulations indicate that the estimator is nearly unbiased with a sampling variance at high coverage asymptotically approaching the value expected when all relevant information is accurately estimated. The estimator does not require phasing of haplotypes and enables the estimation of linkage disequilibrium even when all individual reads cover just single polymorphic sites.
authors.affiliation: Department of Biology, Indiana University, Bloomington, Indiana 47405 tmaruki@indiana.edu.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Maruki
authors.affiliation: Department of Biology, Indiana University, Bloomington, Indiana 47405.
authors.forename: Michael
authors.initials: M
authors.lastname: Lynch
mesh_terms: D003198:Computer Simulation; D005787:Gene Frequency; D056726:Genetic Association Studies / Q000379:methods*; D056426:Genetic Loci; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D015810:Linkage Disequilibrium; D008958:Models, Molecular
keywords: linkage disequilibrium; population genomics