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CMU-CS-04-166
Computer Science Department
School of Computer Science, Carnegie Mellon University
CMU-CS-04-166
Evaluation of the Haplotype Motif Model using
the Principle of Minimum Description
Srinath Sridhar, Kedar Dhamdhere, Guy E. Blelloch,
R. Ravi*, Russell Schwartz**
October 2004
CMU-CS-04-166.ps
CMU-CS-04-166.pdf
Keywords: Single nucleotide polymorphism, haplotypes,
minimum description length
We apply minimum description length (MDL) principles to
evaluate the merit of relaxing the rigidity of block models
of haplotype structure. We accomplish this by developing an
MDL formulation of the more general "haplotype motif"
haplotype structure similar to an approach proposed independently
by Koivisto et al.. Comparison of equivalent block and motif MDL
models on real and simulated data reveal that the more exible
motif models can yield substantial reductions in data
explanations, suggesting that motifs are more accurately
capturing the true nature of haplotype conservation. These
benefits are less pronounced in real than in simulated data,
however, and depend on coverage level, marker density, and
intrinsic recombination rates of specific data sets.
16 pages
* The Tepper School of Business, Carnegie Mellon University
** Department of Biological Sciences, Carnegie Mellon University
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