Title
Constrained hidden Markov models for population-based haplotyping.
Abstract
Haplotype Reconstruction is the problem of resolving the hidden phase information in genotype data obtained from laboratory measurements. Solving this problem is an important intermediate step in gene association studies, which seek to uncover the genetic basis of complex diseases. We propose a novel approach for haplotype reconstruction based on constrained hidden Markov models. Models are constructed by incrementally refining and regularizing the structure of a simple generative model for genotype data under Hardy-Weinberg equilibrium.The proposed method is evaluated on real-world and simulated population data. Results show that it is competitive with other recently proposed methods in terms of reconstruction accuracy, while offering a particularly good trade-off between computational costs and quality of results for large datasets.Relatively simple probabilistic approaches for haplotype reconstruction based on structured hidden Markov models are competitive with more complex, well-established techniques in this field.
Year
DOI
Venue
2007
10.1186/1471-2105-8-S2-S9
BMC Bioinformatics
Keywords
DocType
Volume
haplotypes,hardy weinberg equilibrium,algorithms,genetic linkage,bioinformatics,microarrays,artificial intelligence,genetics,hidden markov model,markov chains
Journal
8 Suppl 2
Issue
ISSN
Citations 
S-2
1471-2105
32
PageRank 
References 
Authors
1.17
6
5
Name
Order
Citations
PageRank
Niels Landwehr150631.54
Taneli Mielikäinen275939.97
Lauri Eronen31446.60
Hannu Toivonen44261776.95
Heikki Mannila565951495.69