Results 1 to 10 of about 149 (149)
Mapping Haplotype-haplotype Interactions with Adaptive LASSO [PDF]
BMC Genetics, 2010 AbstractBackgroundThe genetic etiology of complex diseases in human has been commonly viewed as a complex process involving both genetic and environmental factors functioning in a complicated manner. Quite often the interactions among genetic variants play major roles in determining the susceptibility of an individual to a particular disease ...
Roberto Romero +3 more
openaire +4 more sources
Detecting Local Haplotype Sharing and Haplotype Association [PDF]
Genetics, 2014 Abstract A novel haplotype association method is presented, and its power is demonstrated. Relying on a statistical model for linkage disequilibrium (LD), the method first infers ancestral haplotypes and their loadings at each marker for each individual.
Yongtao Guan, Hanli Xu, Hanli Xu
openaire +3 more sources
Minimal haplotype tagging [PDF]
Proceedings of the National Academy of Sciences, 2003 The high frequency of single-nucleotide polymorphisms (SNPs) in the human genome presents an unparalleled opportunity to track down the genetic basis of common diseases. At the same time, the sheer number of SNPs also makes unfeasible genomewide disease association studies.
Isaac S. Kohane +5 more
openaire +4 more sources
Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping [PDF]
Nucleic Acids Research, 2008 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 ...
Daniel J. Turner +2 more
openaire +3 more sources
Pure Parsimony Xor Haplotyping [PDF]
IEEE/ACM Transactions on Computational Biology and Bioinformatics, 2009 The haplotype resolution from xor-genotype data has been recently formulated as a new model for genetic studies. The xor-genotype data is a cheaply obtainable type of data distinguishing heterozygous from homozygous sites without identifying the homozygous alleles.
BONIZZONI, PAOLA +4 more
openaire +10 more sources
Of Genes, Blocks, and Haplotypes [PDF]
Biology of Blood and Marrow Transplantation, 2012 indicate normal function. Today, functional assays such as with tetramer staining, intracellular cytokine staining, and degranulation assays, are becoming more readily available and allow us to functionally interrogate lymphocyte subpopulations. These assessments, if validated as predictors of infection and relapse, will not only help elucidate the ...
openaire +3 more sources
A Bayesian Hierarchical Model for Detecting Haplotype-Haplotype and Haplotype-Environment Interactions in Genetic Association Studies [PDF]
Human Heredity, 2011 <i>Objective: </i>Genetic association studies based on haplotypes are powerful in the discovery and characterization of the genetic basis of complex human diseases. However, statistical methods for detecting haplotype-haplotype and haplotype-environment interactions have not yet been fully developed owing to the difficulties encountered ...
Nengjun Yi, Jun Li, Kui Zhang
openaire +3 more sources
Haplotyping Methods for Pedigrees [PDF]
Human Heredity, 2009 Haplotypes provide valuable information in the study of diseases, complex traits, population histories, and evolutionary genetics. With the dramatic increase in the number of available single nucleotide polymorphism (SNP) markers, haplotype inference (haplotyping) using observed genotype data has become an important component of genetic studies in ...
Guimin Gao +2 more
openaire +3 more sources
Haplotype-aware graph indexes [PDF]
Bioinformatics, 2019 AbstractMotivationThe variation graph toolkit (VG) represents genetic variation as a graph. Although each path in the graph is a potential haplotype, most paths are nonbiological, unlikely recombinations of true haplotypes.ResultsWe augment the VG model with haplotype information to identify which paths are more likely to exist in nature.
Richard Durbin +6 more
openaire +12 more sources
Haplotype inference for present–absent genotype data using previously identified haplotypes and haplotype patterns [PDF]
Bioinformatics, 2007 AbstractMotivation: 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.
Richard A. Kaslow +3 more
openaire +3 more sources