Probabilistic single-individual haplotyping

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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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Fosmid-based whole genome haplotyping of a HapMap trio child: evaluation of Single Individual Haplotyping techniques

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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On the Complexity of the Single Individual SNP Haplotyping Problem

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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A comparison of several algorithms for the single individual SNP haplotyping reconstruction problem

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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Practical Algorithms and Fixed-Parameter Tractability for the Single Individual SNP Haplotyping Problem

Single nucleotide polymorphisms (SNPs) are the most frequent form of human genetic variation, of foremost importance for a variety of applications including medical diagnostic, phylogenies and drug design. The complete SNPs sequence information from each of the two copies of a given chromosome in a diploid genome is called a haplotype. The Haplotyping Problem for a single individual is as follo...

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ژورنال

عنوان ژورنال: Bioinformatics

سال: 2014

ISSN: 1367-4803,1460-2059

DOI: 10.1093/bioinformatics/btu484