نتایج جستجو برای: haplotyping

تعداد نتایج: 559  

Journal: :Clinical chemistry 2004
Nicolas von Ahsen Victor W Armstrong Michael Oellerich

BACKGROUND Haplotyping is an important technique in molecular diagnostics because haplotypes are often more predictive for individual phenotypes than are the underlying single-nucleotide polymorphisms (SNPs). Until recently, methods for haplotyping SNPs separated by kilobase distances were laborious and not applicable to high-throughput screening. In the case of thiopurine S-methyltransferase (...

Journal: :Genetic epidemiology 2004
Stuart Thomas David Porteous Peter M Visscher

Haplotype analysis is essential to studies of the genetic factors underlying human disease, but requires a large sample size of phase-known data. Recently, directly haplotyping individuals was suggested as a means of maximizing the phase-known data from a sample. Haplotyping, however, is much more labor-intensive than indirectly inferring haplotypes from genotypes (genotyping). This study uses ...

D Jackmaert S Melotte C Moreau Y Vanneste E Vermeesch JR Voet Th Zamani Esteki M,

Background: Haplotyping is invaluable not only to identify genetic variants underlying a disease or trait, but also to study evolution and population history as well as meiotic and mitotic recombination processes. Current genome-wide haplotyping methods rely on genomic DNA that is extracted from a large number of cells. Thus far random allele drop out and preferential amplification artifacts of...

Journal: :Journal of biomedical informatics 2010
Nadezhda Sazonova Edward Sazonov E. James Harner

Problems of haplotyping and block partitioning have been extensively studied with regard to the regular genotype data, but more cost-efficient data called XOR-genotypes remain under-investigated. Previous studies developed methods for haplotyping of short-sequence partial XOR-genotypes. In this paper we propose a new algorithm that performs haplotyping of long-range partial XOR-genotype data wi...

Journal: :Nucleic Acids Research 2005
Genevieve Pont-Kingdon Elaine Lyon

Direct determination of the association of multiple genetic polymorphisms, or haplotyping, in individual samples is challenging because of chromosome diploidy. Here, we describe the ability of hybridization probes, commonly used as genotyping tools, to establish single nucleotide polymorphism (SNP) haplotypes in a single step. Three haplotypes found in the beta 2-adrenergic receptor (beta2AR) g...

2007
Bernard A. Konfortov Alan T. Bankier Paul H. Dear

Many methods exist for genotyping--revealing which alleles an individual carries at different genetic loci. A harder problem is haplotyping--determining which alleles lie on each of the two homologous chromosomes in a diploid individual. Conventional approaches to haplotyping require the use of several generations to reconstruct haplotypes within a pedigree, or use statistical methods to estima...

2008
Daniel J. Turner Chris Tyler-Smith Matthew E. Hurles

Ligation Haplotyping is a robust, novel method for experimental determination of haplotypes over long distances, which can be applied to assaying both sequence and structural variation. The simplicity and efficacy of the method for genotyping large chromosomal rearrangements and haplotyping SNPs over long distances make it a valuable and powerful addition to the methodological repertoire, which...

Journal: :INFORMS Journal on Computing 2010
Daniele Catanzaro Alessandra Godi Martine Labbé

Haplotyping estimation from aligned Single Nucleotide Polymorphism (SNP) fragments has attracted more and more attention in the recent years due to its importance in analysis of many fine-scale genetic data. Its application fields range from mapping of complex disease genes to inferring population histories, passing through designing drugs, functional genomics and pharmacogenetics. The literatu...

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