Haplotype reconstruction using perfect phylogeny and sequence data

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Efficient reconstruction of haplotype structure via perfect phylogeny.

Each person's genome contains two copies of each chromosome, one inherited from the father and the other from the mother. A person's genotype specifies the pair of bases at each site, but does not specify which base occurs on which chromosome. The sequence of each chromosome separately is called a haplotype. The determination of the haplotypes within a population is essential for understanding ...

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Haplotype reconstruction from genotype data using Imperfect Phylogeny

UNLABELLED Critical to the understanding of the genetic basis for complex diseases is the modeling of human variation. Most of this variation can be characterized by single nucleotide polymorphisms (SNPs) which are mutations at a single nucleotide position. To characterize the genetic variation between different people, we must determine an individual's haplotype or which nucleotide base occurs...

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The Incomplete Perfect Phylogeny Haplotype Problem

The problem of resolving genotypes into haplotypes, under the perfect phylogeny model, has been under intensive study recently. All studies so far handled missing data entries in a heuristic manner. We prove that the perfect phylogeny haplotype problem is NP-complete when some of the data entries are missing, even when the phylogeny is rooted. We define a biologically motivated probabilistic mo...

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Perfect phylogeny haplotyper: haplotype inferral using a tree model

SUMMARY We have developed an efficient program, the Perfect Phylogeny Haplotyper (PPH) that takes in unphased population genotype data, and determines if that data can be explained by haplotype pairs that could have evolved on a perfect phylogeny.

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Haplotype Block Partitioning and tagSNP Selection under the Perfect Phylogeny Model

Single Nucleotide Polymorphisms (SNPs) are the most usual form of polymorphism in human genome.Analyses of genetic variations have revealed that individual genomes share common SNP-haplotypes. Theparticular pattern of these common variations forms a block-like structure on human genome. In this work,we develop a new method based on the Perfect Phylogeny Model to identify haplo...

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ژورنال

عنوان ژورنال: BMC Bioinformatics

سال: 2012

ISSN: 1471-2105

DOI: 10.1186/1471-2105-13-s6-s3