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Empirical Exploration of Perfect Phylogeny Haplotyping and Haplotypers
2003The next high-priority phase of human genomics will involve the development of a full Haplotype Map of the human genome [15]. It will be used in large-scale screens of populations to associate specific haplotypes with specific complex genetic-influenced diseases.
Ren-Hua Chung, Dan Gusfield
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Biometrics, 1988
Previous work on the inheritance of disease has often used certain measures of HLA haplotype concordance (such as the number of haplotypes "identical by descent," IBD) among affected siblings from each of a number of sibships, each of which contains at least two affected siblings. Here we introduce a new measure of HLA haplotype discordance between the
Mamdouh Montasser, J. R. Green
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Previous work on the inheritance of disease has often used certain measures of HLA haplotype concordance (such as the number of haplotypes "identical by descent," IBD) among affected siblings from each of a number of sibships, each of which contains at least two affected siblings. Here we introduce a new measure of HLA haplotype discordance between the
Mamdouh Montasser, J. R. Green
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Haplotyping as Perfect Phylogeny
2004We consider the following problem: Given n genotypes, does there exist a set H of haplotypes such that each genotype is generated by a pair from this set, and this det can be derived on a perfect phylogeny. Recently, Gusfield, 2002, presented a polynomial time algorithm to solve this problem that uses established results from matroid and graph theory ...
Bafna V. +3 more
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Algorithms for inferring haplotypes
Genetic Epidemiology, 2004AbstractHaplotype phase information in diploid organisms provides valuable information on human evolutionary history and may lead to the development of more efficient strategies to identify genetic variants that increase susceptibility to human diseases. Molecular haplotyping methods are labor‐intensive, low‐throughput, and very costly.
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Mixed haplotypes and autoimmunity
Immunology Today, 1993Why do (NZB x NZW)F1 mice develop an autoimmune lupus-like syndrome? The second exons of the class II genes of NZB and NZW are identical to their counterparts of H-2d and H-2u haplotypes. Several lines of evidence suggest that this allows the production of a mixed haplotype molecule, I-E alpha dE beta z, and that this molecule plays a key role in the ...
Benjamin D. Schwartz +3 more
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Haplotype‐Association Analysis
2008Association methods based on linkage disequilibrium (LD) offer a promising approach for detecting genetic variations that are responsible for complex human diseases. Although methods based on individual single nucleotide polymorphisms (SNPs) may lead to significant findings, methods based on haplotypes comprising multiple SNPs on the same inherited ...
Hongyu Zhao, Nianjun Liu, Kui Zhang
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Endocrine Research, 1995
Polymorphisms affecting the synthesis of aldosterone or its regulation may have effects on blood pressure. For example, an autosomal dominant form of human hypertension, glucocorticoid suppressible hyperaldosteronism, is caused by recombination between the genes for aldosterone synthase (CYP11B2) and steroid 11 beta-hydroxylase (CYP11B1), creating a ...
Perrin C. White, Liliya Slutsker
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Polymorphisms affecting the synthesis of aldosterone or its regulation may have effects on blood pressure. For example, an autosomal dominant form of human hypertension, glucocorticoid suppressible hyperaldosteronism, is caused by recombination between the genes for aldosterone synthase (CYP11B2) and steroid 11 beta-hydroxylase (CYP11B1), creating a ...
Perrin C. White, Liliya Slutsker
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Estimation of haplotype frequencies
Tissue Antigens, 1983Maximum likelihood estimates of haplotype frequencies in multilocus systems are often zero and so may be genetically inacceptable. Estimation problems are discussed, and preferable estimates are derived.
Lew R +3 more
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Nature Biotechnology, 2016
Short-read sequencing provides haplotype information when long DNA fragments are barcoded in microfluidic droplets.
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Short-read sequencing provides haplotype information when long DNA fragments are barcoded in microfluidic droplets.
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Multifactor Dimensionality Reduction for Detecting Haplotype-Haplotype Interaction
2009 Sixth International Conference on Fuzzy Systems and Knowledge Discovery, 2009The multifactor dimensionality reduction (MDR) is a model-free approach that can identify SNP × SNP effects in a case-control study. In this study, we extended MDR to identify interactions among haplotypes (Hap-MDR). With Hap-MDR, multilocus haplotype genotypes were pooled into high-risk and low-risk groups, effectively reducing the haplotype genotypes
Zhiqiang Chen +7 more
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