Haplotype inference for present–absent genotype data using previously identified haplotypes and haplotype patterns

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Haplotype inference for present-absent genotype data using previously identified haplotypes and haplotype patterns

MOTIVATION Killer immunoglobulin-like receptor (KIR) genes vary considerably in their presence or absence on a specific regional haplotype. Because presence or absence of these genes is largely detected using locus-specific genotyping technology, the distinction between homozygosity and hemizygosity is often ambiguous. The performance of methods for haplotype inference (e.g. PL-EM, PHASE) for K...

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A hidden Markov model for haplotype inference for present-absent data of clustered genes using identified haplotypes and haplotype patterns

The majority of killer cell immunoglobin-like receptor (KIR) genes are detected as either present or absent using locus-specific genotyping technology. Ambiguity arises from the presence of a specific KIR gene since the exact copy number (one or two) of that gene is unknown. Therefore, haplotype inference for these genes is becoming more challenging due to such large portion of missing informat...

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A fast haplotype inference method for large population genotype data

With the rapid progress of genotyping techniques, many large-scale, genome-wide disease studies are now under way. One of the challenges of large disease-association studies is developing a fast and accurate computing method for haplotype inference from genotype data. In this paper, a new computing method for population-based haplotype inference problem is proposed. The designed method does not...

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Haplotype Inference Via Hierarchical Genotype Parsing

The within-species genetic variation due to recombinations leads to a mosaic-like structure of DNA. This structure can be modeled, e.g. by parsing sample sequences of current DNA with respect to a small number of founders. The founders represent the ancestral sequence material from which the sample was created in a sequence of recombination steps. This scenario has recently been successfully ap...

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Summary: We have developed a computer program consisting of four algorithms for inferring haplotypes from (unphased) genotypes on pedigree data. These algorithms are designed based on a combinatorial formulation of haplotype inference, namely the minimum-recombinant haplotype configuration (MRHC) problem, and are effective for different types of data. One of the algorithms, called block-extensi...

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ژورنال

عنوان ژورنال: Bioinformatics

سال: 2007

ISSN: 1460-2059,1367-4803

DOI: 10.1093/bioinformatics/btm371