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Am J Hum Genet. 2003 Jul;73(1):86-94. Epub 2003 May 20.

Minimum description length block finder, a method to identify haplotype blocks and to compare the strength of block boundaries.

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Department of Computer Science, and Helsinki Institute for Information Technology Basic Research Unit, University of Helsinki, Helsinki, Finland.


We describe a new probabilistic method for finding haplotype blocks that is based on the use of the minimum description length (MDL) principle. We give a rigorous definition of the quality of a segmentation of a genomic region into blocks and describe a dynamic programming algorithm for finding the optimal segmentation with respect to this measure. We also describe a method for finding the probability of a block boundary for each pair of adjacent markers: this gives a tool for evaluating the significance of each block boundary. We have applied the method to the published data of Daly and colleagues. The results expose some problems that exist in the current methods for the evaluation of the significance of predicted block boundaries. Our method, MDL block finder, can be used to compare block borders in different sample sets, and we demonstrate this by applying the MDL-based method to define the block structure in chromosomes from population isolates.

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