Results 1 to 10 of about 133,224 (273)
arXiv, 2007 Statistically resolving the underlying haplotype pair for a genotype measurement is an important intermediate step in gene mapping studies, and has received much attention recently. Consequently, a variety of methods for this problem have been developed.
Kääriäinen, Matti +3 more
arxiv +3 more sources
High fraction of silent recombination in a finite population two-locus neutral birth-death-mutation model [PDF]
Phys. Rev. E 106, 024409 (2022), 2021 A precise estimate of allele and haplotype polymorphism is of great interest in theoretical population genetics, but also has practical applications, such as bone marrow registries management. Allele polymorphism is driven mainly by point mutations, while haplotype polymorphism is also affected by recombination. Current estimates treat recombination as
arxiv +1 more source
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
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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
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Haplotype-resolved de novo assembly with phased assembly graphs [PDF]
Nature Methods, 2021, 2020 Haplotype-resolved de novo assembly is the ultimate solution to the study of sequence variations in a genome. However, existing algorithms either collapse heterozygous alleles into one consensus copy or fail to cleanly separate the haplotypes to produce high-quality phased assemblies.
arxiv +1 more source
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
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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
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SHIELD: Secure Haplotype Imputation Employing Local Differential Privacy [PDF]
arXiv, 2023 We introduce Secure Haplotype Imputation Employing Local Differential privacy (SHIELD), a program for accurately estimating the genotype of target samples at markers that are not directly assayed by array-based genotyping platforms while preserving the privacy of donors to public reference panels.
arxiv
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 ...
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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