HaplotypeCN: Copy Number Haplotype Inference with Hidden Markov Model and Localized Haplotype Clustering
نویسندگان
چکیده
منابع مشابه
HaplotypeCN: Copy Number Haplotype Inference with Hidden Markov Model and Localized Haplotype Clustering
Copy number variation (CNV) has been reported to be associated with disease and various cancers. Hence, identifying the accurate position and the type of CNV is currently a critical issue. There are many tools targeting on detecting CNV regions, constructing haplotype phases on CNV regions, or estimating the numerical copy numbers. However, none of them can do all of the three tasks at the same...
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Knowledge of haplotypes is useful for understanding block structures of the genome and finding genes associated with disease. Direct measurement of haplotypes in the absence of family data is presently impractical. Hence several methods have been developed previously for reconstructing haplotypes from population data. In this thesis, a new population-based method is developed using a Hidden Mar...
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A hidden Markov model is introduced for descriptive modelling the mosaic–like structures of haplotypes, due to iterated recombinations within a population. Methods using the minimum description length principle are given for fitting such models to training data. Possible applications of the models are delineated, and some preliminary analysis results on real sets of haplotypes are reported, dem...
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2014
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0096841