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The EM algorithm and its implementation for the estimation of frequencies of SNP-haplotypes

Joanna Polańska (2003)

International Journal of Applied Mathematics and Computer Science

A haplotype analysis is becoming increasingly important in studying complex genetic diseases. Various algorithms and specialized computer software have been developed to statistically estimate haplotype frequencies from marker phenotypes in unrelated individuals. However, currently there are very few empirical reports on the performance of the methods for the recovery of haplotype frequencies. One of the most widely used methods of haplotype reconstruction is the Maximum Likelihood method, employing...

The Uniform Minimum-Ones 2SAT Problem and its Application to Haplotype Classification

Hans-Joachim Böckenhauer, Michal Forišek, Ján Oravec, Björn Steffen, Kathleen Steinhöfel, Monika Steinová (2010)

RAIRO - Theoretical Informatics and Applications

Analyzing genomic data for finding those gene variations which are responsible for hereditary diseases is one of the great challenges in modern bioinformatics. In many living beings (including the human), every gene is present in two copies, inherited from the two parents, the so-called haplotypes. In this paper, we propose a simple combinatorial model for classifying the set of haplotypes in a population according to their responsibility for a certain genetic disease. This model is based...

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