Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 11 of 11 for “"haplotyping"”.
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Efficient haplotyping for families
Hapi is a novel dynamic programming algorithm for haplotyping nuclear families that outperforms contemporary family-based haplotyping algorithms. Haplotypes are useful for mapping and identifying genes which cause and contribute to the etiology of human disease, and for analyzing the products of …
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Haplotype Inference through Sequential Monte Carlo
… inference is particularly relevant. Existing haplotyping methods include population based methods, methods for pooled DNA samples and methods for family and pedigree data. Furthermore, the vast amount of available data pose new challenges for haplotyping algorithms. Candidate methods should …
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Patterns of linkage disequilibrium in the human genome
… history, as well as the advantages afforded to haplotyping due to hemizygosity of the X chromosome in males. Major conclusions include the observation that LD between pairs of markers is highly variable even at extremely close distances and multimarker haplotypes better serve to resolve the …
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Molecular genetics of arrhythmogenic right ventricular and dilated cardiomyopathy in South Africans
… were used: in the founder effect study we used haplotyping with microsatellite markers; for total gene expression we used real time polymerase chain reaction and allelic expression imbalance and exome sequencing was used for mutation screening in two siblings with severe early onset ARVC. To all …
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Genealogical tracing of founder variants linked to cardiomyopathies in a South African cohort
… family records. TTN variants had issues with haplotyping and genealogical challenges as well as limited records for Black African and Mixed-Ancestry families. Conclusions: This research significantly advances our understanding of cardiomyopathy genetics in South Africa. The identification of …
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Algorithms For Haplotype Inference And Block Partitioning
… for haplotype inference. The perfect phylogeny haplotyping (PPH) problem is to derive a set of haplotypes for a given set of genotypes with the condition that the haplotypes describe a perfect phylogeny. The perfect phylogeny approach to haplotype inference is applicable to the human genome due …
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The molecular genetics of Type 2 diabetes
… district is probably due to a founder-effect, by haplotyping affected members of the four pedigrees for GCK1 and GCK2. <br></br><br></br> Chapters 8 and 9 use restriction fragment length polymorphism (RFLP) analysis to detect specific mutations known to create, or remove a cutting site for a …
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Next Generation Sequencing: Applications for the Clinic
Genomic information from the patient is becoming increasingly important for diagnosis of many diseases. Next Generation Sequencing (NGS), while commonly used as a research tool, is steadily making its way into clinical labs. One advantage of NGS is found in the observations that can be made, in …
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Evaluation of soybean aphid resistance, yield qtl confirmation, and genetic gain in soybean
… may be important in soybean aphid resistance. Haplotyping results indicated that only three PIs had a haplotype similar to the Rag1 source in the Rag1 region, and that 69 PIs had a haplotype similar to the Rag2 source in the Rag2 region. The haplotype data was inconclusive at identifying …
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Molekulargenetische Verwandtschaftsanalysen am prähistorischen Skelettkollektiv der Lichtensteinhöhle
Die Prähistorische Anthropologie befasst sich mit den Lebensbedingungen und Lebensweisen der Menschen vergangener Zeiträume. Im Fokus der anthropologischen Forschung liegt dabei die Aufklärung verwandtschaftlicher Beziehungen, da komplexe Sozialstrukturen Einblicke in kulturhistorische …
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Untersuchungen zur Assoziation genetischer Polymorphismen im Gen des Endotoxinrezeptors CD14 mit der transkriptionellen Aktivität
Assoziationen des SNPs rs2569190 im CD14-Endotoxinrezeptorgen mit dem Risiko für verschiedene Erkrankungen, die mit einer Entzündungskomponente einhergehen, und weitere in-vitro-Experimente mit transfizierten Zelllinien lassen vermuten, dass das T-Allel der polymorphen Position über eine erhöhte …