MixSIH: a mixture model for single individual haplotyping
نویسندگان
چکیده
منابع مشابه
Probabilistic single-individual haplotyping
MOTIVATION Accurate haplotyping-determining from which parent particular portions of the genome are inherited-is still mostly an unresolved problem in genomics. This problem has only recently started to become tractable, thanks to the development of new long read sequencing technologies. Here, we introduce ProbHap, a haplotyping algorithm targeted at such technologies. The main algorithmic idea...
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Determining the underlying haplotypes of individual human genomes is an essential, but currently difficult, step toward a complete understanding of genome function. Fosmid pool-based next-generation sequencing allows genome-wide generation of 40-kb haploid DNA segments, which can be phased into contiguous molecular haplotypes computationally by Single Individual Haplotyping (SIH). Many SIH algo...
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We present several new results pertaining to haplotyping. These results concern the combinatorial problem of reconstructing haplotypes from incomplete and/or imperfectly sequenced haplotype fragments. We consider the complexity of the problems Minimum Error Correction (MEC) and Longest Haplotype Reconstruction (LHR) for different restrictions on the input data. Specifically, we look at the gapl...
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MOTIVATION Single nucleotide polymorphisms are the most common form of variation in human DNA, and are involved in many research fields, from molecular biology to medical therapy. The technological opportunity to deal with long DNA sequences using shotgun sequencing has raised the problem of fragment recombination. In this regard, Single Individual Haplotyping (SIH) problem has received conside...
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MOTIVATION Haplotype played an important role in the association studies of disease gene and drug responsivity over the past years, but the low throughput of expensive biological experiments largely limited its application. Alternatively, some efficient statistical methods were developed to deduce haplotypes from genotypes directly. Because these algorithms usually needed to estimate the freque...
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ژورنال
عنوان ژورنال: BMC Genomics
سال: 2013
ISSN: 1471-2164
DOI: 10.1186/1471-2164-14-s2-s5