BACKGROUND Molecular haplotyping is a developing technology with great potential for use in clinical diagnostics. We describe a haplotyping method that uses PCR combined with hybridization probes. METHODS We designed a LightCycler assay that uses fluorescence resonance energy transfer hybridization probes to haplotype the poly(TG) and polyT (TG-T) tract in the IVS-8 region of the CFTR gene. T...

MOTIVATION In genetic studies of complex diseases, haplotypes provide more information than genotypes. However, haplotyping is much more difficult than genotyping using biological techniques. Therefore effective computational techniques have been in demand. The individual haplotyping problem is the computational problem of inducing a pair of haplotypes from an individual's aligned SNP fragments...

The problem Parsimony Haplotyping (PH) asks for the smallest set of haplotypes which can explain a given set of genotypes, and the problem Minimum Perfect Phylogeny Haplotyping (MPPH) asks for the smallest such set which also allows the haplotypes to be embedded in a perfect phylogeny evolutionary tree, a well-known biologically-motivated data structure. For PH we extend recent work of [16] by ...

To analyze the function of DNA, researchers have to obtain each haplotype, the genetic constitution of an individual chromosome, of an individual for analysis. Due to the significant efforts required in collecting haplotypes, the descriptions of one conflated pair of haplotypes called genotypes are usually collected. Since the genotype data contains insufficient information to identify the comb...

In this paper we present a collection of results pertaining to haplotyping. The first set of results concerns the combinatorial problem of reconstructing haplotypes from incomplete and/or imperfectly sequenced haplotype data. More specifically, we show that an interesting, restricted case of Minimum Error Correction (MEC) is NP-hard, point out problems in earlier claims about a related problem,...

Recent improvements in the accessibility of high-throughput genotyping have brought a great deal of attention to disease association studies[6]. It is believed that more accurate disease association is achieved with inferred haplotypes rather than with directly available genotypes. The main goal of disease association analysis is to identify gene variations or, in general, haplotypes which cont...

Computational methods for inferring haplotype information from genotype data are used in studying the association between genomic variation and medical condition. Recently, Gusfield proposed a haplotype inference method that is based on perfect phylogeny principles. A fundamental problem arises when one tries to apply this approach in the presence of missing genotype data, which is common in pr...

Haplotyping under the Mendelian law of inheritance on pedigree genotype data is studied. Because genetic recombinations are rare, research has focused on Minimum Recombination Haplotype Inference (MRHI), i.e. finding the haplotype configuration consistent with the genotype data having the minimum number of recombinations. We focus here on the more realistic k-MRHI, which has the additional cons...

MOTIVATION In modern sequencing studies, one can improve the confidence of genotype calls by phasing haplotypes using information from an external reference panel of fully typed unrelated individuals. However, the computational demands are so high that they prohibit researchers with limited computational resources from haplotyping large-scale sequence data. RESULTS Our graphics processing uni...