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 “"Genome variation"”.
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Genome Variation Across Cancers Scales With Tissue Stiffness--An Invasion-Mutation Mechanism
Analysis of published cancer genome sequencing data reveals that cancers arising in stiff tissues, such as lung and skin, exhibit more than 30-fold higher mutation rates than those arising in soft tissues, like marrow and brain. This scaling relationship suggests a possible mechanical source of …
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An African Genome Variation Database and its applications in human diversity and health
African genomes exhibit the highest levels of sequence and haplotype diversity of all extant human populations. A combination of historical as well as geographical factors have contributed toward the high level of genetic diversity in Ancestral populations in Africa. Additionally, a series of …
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Deep learning of regulatory sequence variation in Pulmonary Arterial Hypertension
… the cause can be attributed to rare genetic variation in the protein-coding space. The sequencing of 13,343 whole genomes by the NIHR BioResource for Translational Research – Rare Diseases (NBR), including 1,216 PAH samples, provides an unprecedented opportunity to estimate the contribution …
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New Insights into the Evolution of Learned Vocalization from the Australian Zebra Finch, Taeniopygia castanotis
… is much more difficult to ascribe observed human genome variation to the evolution of specific traits, especially behavioral traits. Further, neutral mutations cannot be removed by looking for shared variance across species because we are the only extant species of vocal learning primates. Human …
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Novel Machine Learning Models for Identification, Characterization and Prioritization of Phenotype-Genotype Associations
This thesis is centered on the broad problem of inferring, characterizing and prioritizing molecular and functional phenotype effects of genetic variants. I first investigate the problems caused by phenotype heterogeneity in association studies of complex traits. Many complex diseases, such as …
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Leveraging Whole Genome Sequences to Compare Mutational Mechanism and Identify Medically Relevant Variation in African versus Non-African Descend Populations
Whole-Genome Sequencing (WGS) is ushering a new era in healthcare and research in identifying genetic variation in all populations. However, the African populations are still under-represented. Since African populations are being the most genetically diverse with high heterogeneity rate, we need to …
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Accurate Mutation Annotation and Functional Prediction Enhance The Applicability of -Omics Data In Precision Medicine
… by more rigorously implementing the Human Genome Variation Society (HGVS) nomenclature. Our study also tried to illustrate the ambiguities of annotation among different transcript databases and different mutation types. TransVar standardizes mutation annotation and enables precise …
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Human host and malaria parasite genome variations to susceptibility to malaria
… endemic and non-endemic areas. Methodology: Genome-wide genotype datasets (n=13, 447) from four malaria endemic African populations, including Mali, Kenya, Gambia, and Malawi, which were part of the MalariaGEN consortium, were accessed. As comparator, reference datasets of global populations …
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Dissecting the genetic bases of severe malaria resistance using genome-wide and post genomewide study approaches
… disease and death. Over the last decade, several genome-wide association studies (GWASs) have been conducted in diverse malaria endemic populations to understand the natural host protective immunity against severe malaria that can provide clues for the development of new vaccines and therapeutics. …
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Mechanisms of CD8+ T Cell Mediated Virus Inhibition in HIV-1 Virus Controllers
… Human BeadChip platform (Duke Center for Human Genome Variation). Analysis revealed that 565 (242 Nef and 323 Gag) genes were differentially expressed in CD8+ T-cells that were able to inhibit virus replication compared to those that could not. We compared the differentially expressed genes to …
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A Genome-wide Association Study of Schizophrenia in the South African Xhosa and Generalizability of Polygenic Risk Score across African populations
… genetic studies despite having the most genetic variation globally and facing wide-ranging environmental exposures. Most of these studies have been conducted in populations of European (EUR) ancestry using GWAS arrays that represent the genetic variation in these populations. Thus, the prediction …