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 20 of 306 for “"Human genome"”.
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Retrotransposon-mediated instability in the human genome
… are two active retrotransposon families in the human genome that have the potential to create genomic instability either during the insertion of new elements or through ectopic recombination. However, recent in vitro analyses have demonstrated that these elements also repair DNA double-strand …
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Error Correcting Codes and the Human Genome.
… correcting linear code could be included in the human genome through application and research. The author finds that while it is an accepted hypothesis that it is reasonable that some kind of error correcting code is used in DNA, no one has actually been able to identify one. The author uses the …
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Characterizing and predicting enhancers in the human genome
Characterizing the functions of sequences in the human genome is crucial for the study and treatment of human disease. Though it is known that approximately 5% of the human genome is conserved, about 40% of these sequences have yet to be characterized, many of which may be important players in …
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Patterns of linkage disequilibrium in the human genome
… enormous progress has occurred in the field of human genetics, the cloning of complex trait mutations remains a challenging and unresolved process. This continuing difficulty is responsible for an ever-increasing awareness of the phenomenon of linkage disequilibrium (LD). The principle behind LD …
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Data-driven Mechanistic Modeling of 3D Human Genome
Three-dimensional (3D) organization of the human genome regulates DNA-templated processes, including gene transcription, gene regulation, and DNA replication, which are crucial for cell differentiation and cell functionality. Computational modeling serves as an efficient and effective way of …
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Approaching the Three-Dimensional Organization of the Human Genome
… and three-dimensional organization of the human cell nucleus, the structural-, scaling- and dynamic properties of interphase chromosomes and cell nuclei were simulated on the 30 nm chromatin fiber level with Monte Carlo, Brownian Dynamics and parallel computing methods. Differences between …
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Population Genetic Annotation of the Human Genome: Identifying Pathogenic Mutations
… there have been a series of breakthroughs in human genetics. The advent of next-generation sequencing (NGS) has made it possible, for the first time, to sequence an entire human genome inexpensively and efficiently. The affordability and ease of NGS has led to an explosion of data. Now, the …
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Computational approaches for analyzing regulatory regions in the human genome
The cis-regulatory elements (CRE) in the human genome play a critical role in transcriptional regulation. Alterations of the CRE have long been considered as the driving force of the human evolution. Recent studies also suggest that somatic mutations within the CRE can act as driver factors in …
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Initiating international collaboration: a study of the human genome organization
The formation of the Human Genome Organization, nicknamed HUGO, in 1988 was a response by scientists to the increasing number of programs designed to examine in detail human genetic material that were developing worldwide in the mid 1980s and the perceived need for initiating international …
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Bioinformatic and biological analysis of DNA methylation in the human genome
… of the properties of DNA methylation in the human genome. To assist interpreting results from global methylation assays, a bioinformatics analysis of the properties of methylation-sensitive restriction endonucleases suitable for such measurements was performed. Intra-individual changes in DNA …
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The functional impact of copy number variation in the human genome
… of genetic variation where large segments of the genome vary in copy number among different individuals. It has become clear in the past decade that CNV affects a significant proportion of the human genome and can play an important role in human disease. With array-based copy number detection and …
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Matryoshka genetics: identification of disease-associated mutations in the human genome
… of pathogenic mutations within the human genome, specifically in the context of clinical medicine. It is principally a publication-based thesis, with each of the chapters focusing on the use of a specific molecular technique or combination of techniques to address a particular …
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Transcription Factor Binding Dynamics and Spatial Co-localization In Human Genome
… modifications; however, the relationship between genome spatial organisation and transcription factor binding is not well studied. Using the recently available high resolution Hi-C contact map of human GM12878 lymphoblastoid cells, we investigated computationally the genome-wide spatial …
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Discovery And Visual Analysis of Tracts of Homozygosity In The Human Genome
… system designed for genetic researchers to study genome-wide homozygosity regions. Finding significant tracts of homozygosity (TOH) using single nucleotide polymorphisms (SNPs) from a large-scale genome data set can contribute to the discovery of genetic factors related to human diseases. The …
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Identifying and Analyzing Indel Variants in the Human Genome Using Computational Approaches
… has been shown to cause or contribute to human genetic diseases and cancer. Despite this importance and being the second most abundant variant type in the human genome, indels have not been studied as much as the single nucleotide polymorphism (SNP). With the advance of next-generation …
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Multi-Focus Querying of the Human Genome using Virtual Reality and Desktop
The human genome is incredibly information dense, consisting of approximately 25,000 protein-coding genes contained within 24 unique chromosomes. An aspect of the genome that is critically important is maintaining spatial context which assists in understanding gene interactions and relationships. …
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Understanding The Repair Mechanisms at Ionizing Radiation-induced Damage in The Human Genome
… such as X-rays induce damage clusters in the genome that include DNA double-strand breaks (DSB) with unligatable dirty ends, along with more frequent oxidized bases and single-strand breaks (SSB). While nonhomologous end joining and homologous recombination are major DSB repair pathways which …
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Design of a genetics database for gene clips and the Human Genome database
Thesis (M.Eng. and S.B.)--Massachusetts Institute of Technology, Dept. of Electrical Engineering and Computer Science, 2001.
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Characterizing variation at short tandem repeats and their role in human genome regulation
… thousands of genetic loci associated with human phenotypes. These have primarily analyzed point mutations, ignoring more complex types of variation. Here we focus on Short Tandem Repeats (STRs) as a model for complex variation. STRs are comprised of repeating motifs of 1-6bp that span over …
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