Haplotype frequency estimation error analysis in the presence of missing genotype data

Background: Increasingly researchers are turning to the use of haplotype analysis as a tool in population studies, the investigation of linkage disequilibrium, and candidate gene analysis. When the phase of the data is unknown, computational methods, in particular those employing the Expectation-Maximisation (EM) algorithm, are frequently used for estimating the phase and frequency of the underlying haplotypes. These methods have proved very successful, predicting the phase-known frequencies from data for which the phase is unknown with a high degree of accuracy. Recently there has been much speculation as to the effect of unknown, or missing allelic data

• Type: Journal
• Year: 2004
• Where: BMCBI
• Authors: Enda D. Kelly, Fabian Sievers, Ross McManus
• Keywords: BMCBI 2004, Haplotype Analysis, Haplotypes, Linkage Disequilibrium