Дисертації з теми "Whole-of-population"
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Robinson, Emma Claire. "Characterising population variability in brain structure through models of whole-brain structural connectivity." Thesis, Imperial College London, 2010. http://hdl.handle.net/10044/1/5875.
Повний текст джерелаZhou, Jin, Wai-Ki Yip, Michael Cho, Dandi Qiao, Merry-Lynn McDonald, and Nan Laird. "A comparative analysis of family-based and population-based association tests using whole genome sequence data." BioMed Central, 2014. http://hdl.handle.net/10150/610090.
Повний текст джерелаManyisa, Noluthando. "Whole exome sequencing to investigate genetic variants of non-syndromic hearing impairment in a population of African ancestry." Master's thesis, University of Cape Town, 2018. http://hdl.handle.net/11427/29272.
Повний текст джерелаGladstein, Ariella. "Inference of Recent Demographic History of Population Isolates Using Genome-Wide High Density SNP Arrays and Whole Genome Sequences." Thesis, The University of Arizona, 2018. http://pqdtopen.proquest.com/#viewpdf?dispub=10839026.
Повний текст джерелаIn this dissertation I addressed the problem of SNP array bias when finding runs of ho- mozygosity. I demonstrated the pitfalls of using uninformed methods for finding runs of homozygosity and provide better alternatives, including a more reliable algorithm for identi- fying runs of homozygosity than the most commonly used program. I then provide a review of Ashkenazi population genetics. Next, I developed software to efficiently run millions of whole chromosome simulations, which is publicly available through GitHub, DockerHub, and on the CyVerse Discovery Environment. I applied my computational method to use Approximate Bayesian Computation to test models of Ashkenazi Jewish demographic his- tory. I found that the Ashkenazi Jews are comprised of genetically distinct subgroups from Eastern and Western Europe, as a result of massive population growth in the Eastern Ashkenazi Jews, but not in the Western Ashkenazi Jews. I further confirmed that the Ashkenazi Jews do not primarily originate from Khazaria. Finally, I created a correction for SNP array ascertainment bias in the median and total length of runs of homozygosity, and applied this correction to world-wide human populations. However, I found that ascertainment bias plays a minor role compared to SNP array bias in human populations.
Benoit, Julie E. "Evaluation of Nutritional Risk in Maine's Senior Population with an Emphasis on how Whole Grain Intake Affects Nutritional Status." Fogler Library, University of Maine, 2008. http://www.library.umaine.edu/theses/pdf/BenoitJE2008.pdf.
Повний текст джерелаSanders, G. Rashad Shabazz. ""They imprison the whole population" : U.S. and South African prison literature and the emergence of symbiotic carcerality, 1900-present /." Diss., Digital Dissertations Database. Restricted to UC campuses, 2008. http://uclibs.org/PID/11984.
Повний текст джерелаMohamed, Mahgoub Mohamed Ahmed Mohamed. "Sporadic on/off switching of HTLV-1 Tax expression is crucial to maintain the whole population of virus-induced leukemic cells." Kyoto University, 2018. http://hdl.handle.net/2433/232139.
Повний текст джерелаHsieh, PingHsun. "Model-Based Population Genetics in Indigenous Humans: Inferences of Demographic History, Adaptive Selection, and African Archaic Admixture using Whole-Genome/Exome Sequencing Data." Diss., The University of Arizona, 2016. http://hdl.handle.net/10150/612540.
Повний текст джерелаWilliamson, Jill Marie. "Global investigation into the population genetic structure of Ciyptosporidium hominis based on a whole genome multi-locus SNP-typing scheme; inferences about the existence of biogeographical partitions." Thesis, University of British Columbia, 2009. http://hdl.handle.net/2429/15002.
Повний текст джерелаMaceda, Porto Iago 1986. "Characterization of the micro-substructure of a rural population from the Pyrenees from a geodesic and technical point of view using NGS data : Quantification of batch effects in whole genome sequence data." Doctoral thesis, TDX (Tesis Doctorals en Xarxa), 2021. http://hdl.handle.net/10803/671600.
Повний текст джерелаEn aquest treball presentem un nou dataset de whole genome sequencing amb mostres recollides del Pirineu Oriental espanyol (SEP) amb un coverage superior a 40x. Apliquem mètodes clàssics i nous per descobrir les seves particulars històries demogràfiques i presentem l’ús d’un algorisme desenvolupat recentment en el nostre laboratori per detectar barreres genètiques tenint en compte l’ús de geoestadística. Amb aquestes anàlisis detectem, per primera vegada, una delicada subestructura de poblacions en aquesta regió. També informem de la presència d’un important batch effect en un dels datasets més importants utilitzats en genòmica: the 1.000 Genomes Project. Trobem aquest batch effect quan considerem variants rares, com per exemple mutacions que comporten pèrdua de funció i la quantitat de singletons (tant ancestrals com derivats) detectats en cada mostra.
Ansari, M. Azim. "Inference of recombination properties in bacteria from whole genomes." Thesis, University of Oxford, 2014. https://ora.ox.ac.uk/objects/uuid:b830a37a-fa7e-4b68-9868-fc5c629d45f5.
Повний текст джерелаFinnegan, Kimberly A. "A Mitogenomics View of the Population Structure and Evolutionary History of the Basking Shark Cetorhinus maximum." NSUWorks, 2014. http://nsuworks.nova.edu/occ_stuetd/13.
Повний текст джерелаKozma, Radoslav. "Inferring demographic history and speciation of grouse using whole genome sequences." Doctoral thesis, Uppsala universitet, Zooekologi, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-299926.
Повний текст джерелаBradshaw, Gabrielle. "Investigation of genetic variants in human immunodeficiency and an Australian non-Hodgkin lymphoma population." Thesis, Queensland University of Technology, 2020. https://eprints.qut.edu.au/180906/2/Gabrielle_Bradshaw_Thesis.pdf.
Повний текст джерелаWalsh, Capdevila Sandra 1991. "Insights into the adaptative history of African human populations from whole-genome sequence data." Doctoral thesis, Universitat Pompeu Fabra, 2019. http://hdl.handle.net/10803/668469.
Повний текст джерелаÀfrica és la font d'origen dels humans moderns. Malgrat que les poblacions Africanes són les que contenen la major diversitat genètica al món, estan molt poc representades en estudis genètics. Així doncs, per poder plenament entendre la història evolutiva humana és fonamental incloure més poblacions Africanes en estudis genètics. Aquesta tesi és una petita contribució en l'estudi de la història evolutiva humana a l'Àfrica. Ens hem centrat en dos localitzacions diferents, a l'est i al sud de l'Àfrica. Hem intentat dilucidar les possibles senyals de selecció positiva (o adaptativa) a través de l'anàlisi de seqüències completes de genomes de cinc poblacions d'Etiòpia i una KhoeSan. A més a més, en l'última part de la tesi s'ha intentat entendre a nivell funcional la relació entre el genotip i el fenotip d'un candidat de selecció adaptativa descobert en una població d'Etiòpia.
Stark, Olivia. "Phylogeography, population structure and distribution of genetic variation across the Leishmania donovani species complex with emphasis on the Indian subcontinent." Doctoral thesis, Humboldt-Universität zu Berlin, Lebenswissenschaftliche Fakultät, 2017. http://dx.doi.org/10.18452/17726.
Повний текст джерелаParasites of the Leishmania donovani species complex (LDC) cause most cases of visceral leishmaniasis (VL), one of the most fatal vector-borne parasitic human diseases. As part of an EU funded project, this dissertation has investigated the worldwide genetic population structure of parasites of the LDC, with special focus on the Indian subcontinent (ISC) where unresponsiveness to anti-leishmanial drugs has recently become an urgent problem for the containment of VL. Two types of highly discriminatory approaches have been used. Multi-locus microsatellite typing (MLMT) has been applied to 845 LDC isolates from numerous Old and New World foci of VL, from different clinical forms of the disease and from various hosts. A subset of 125 fully sequenced isolates, reflecting the worldwide distribution of the LDC, was analysed using a next-generation multi-locus sequence approach (ng-MLSA) including single nucleotide polymorphisms (SNP). Both microsatellite and SNP data sets were analysed using, in general, the same population genetic tools. The ng-MLSA approach has, in general, corroborated the population structures obtained with MLMT for the larger data set. With the exception of non MON-1 parasites, the genetic structure revealed was largely associated with the geographic origin of the isolates, but not with the clinical presentation, host specificity and the immune status of the host or year of parasite isolation. Unresponsiveness to antimony or miltefosine treatment as well as the respective resistances measured in vitro could not be linked to a specific genotype or genetic trait. Wg sequencing also failed, so far, to identify mutations, which could be related to the unresponsiveness of LDC isolates from the ISC to antimony and miltefosine therapy. Analyses of selected targets have revealed extensive variation in chromosomal ploidy in all wg sequenced isolates under study and copy number variations for some genes possibly involved in drug resistance.
Dearlove, Bethany Lorna. "Genome evolution and epidemiology of human pathogens." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:af385d35-ca1a-4f4c-ae1a-0ad954cab928.
Повний текст джерелаMondal, Mayukh 1989. "New insights into human migration, demography and adaptation of Indian and South Asian populations from genome analyses." Doctoral thesis, Universitat Pompeu Fabra, 2016. http://hdl.handle.net/10803/511362.
Повний текст джерелаEl projecte del genoma humà va publicar la primera seqüència completa del genoma humà el 2001 amb un cost de milers de millions de dòlars. Després d'això, el cost de la seqüenciació està disminuint més ràpid que la llei de Moore. Actualment no només tenim la seqüència de del genoma humà, sinó que tenim la de molts humans i d’homínids extingits amb una qualitat relativement bona. L’estudi de les seqüències de molts genomes humans varen proporcionar la base per postular que els humans moderns es varen originar a Àfrica, i en la sortida d’Àfrica (Out Of Africa) varen poblar la resta del món, amb una certa barreja amb diferents poblacions d'homínids. La base del treball en biologia i en genòmica evolutiva ha estat fonamentalment empírica (a diferència de la física), però actualment la disponibilitat de moltes dades permet empenyer la recerca cap a aspectes molt més analítics: aquest és l’enfocament del nostre treball en seqüències de DNA. Aquí, en aquesta tesi, hem proporcionat un coneixement més profund sobre l’origen i l'ascendència de poblacions indígenes, d’Àsia i del Pacífic, centrant-nos en la India continental i especialment en les Illes Andaman. També hem estat capaços de revelar l’existència d’una població d'homínids desconeguts que es va barrejar amb els ancestres d’aquestes poblacions. A més, hem demostrat que una forta selecció natural pot canviar dràsticament la morfologia humana en un curt període de temps i que explicaria la morfologia pigmea del pobladors de les illes Andaman.
Begum, Mumtaz. "The incidence, risk factors and implications of type 1 diabetes: whole-of-population linked-data study of children in South Australia born from 1999-2013." Thesis, 2020. http://hdl.handle.net/2440/128227.
Повний текст джерелаThesis (Ph.D.) -- University of Adelaide, School of Public Health, 2020
Madzanire, Daniel. "An education strategy to reduce cultural conflict in schools administered by mines in Zimbabwe." Thesis, 2015. http://hdl.handle.net/10500/21603.
Повний текст джерелаEarly Childhood Education
D. Ed. (Socio-Education)
(9760598), Samarth Mathur. "AN EVOLUTIONARY GENOMICS STUDY FOR CONSERVATION OF THE MONTEZUMA QUAIL." Thesis, 2020.
Знайти повний текст джерелаHumans have altered natural landscape since the agricultural revolution, but it has been most destructive since human globalization and rampant industrialization in the last two centuries. These activities deteriorate and fragments natural habitat of many wild species that creates small isolated populations that lose genetic diversity over time. Loss of genetic diversity reduces the adaptive capacity of a population to respond to future environmental change and increases their extinction risks. Implementing strategies for wildlife conservation is a challenge primarily because of our lack of understanding of the biology of many wild species, the risks they are currently facing, and their evolutionary histories. With the advent of genomic and computational techniques, it is now possible to address these concerns. In my research, I used genomics to study the evolutionary history of the Montezuma Quail (Cyrtonyx montezumae) and created monitoring tools that can be readily applied by wildlife managers for its conservation. Montezuma Quail is a small gamebird found mostly in Mexico with peripheral populations existing in Arizona, New Mexico, and Texas. Montezuma Quail are going through species wide decline in the United States and are listed as vulnerable in the state of Texas due to their small population sizes and geographic isolation from rest of the range. My results show that Texas quail are genetically distinct and significantly less diverse than Arizona quail. Analysis of whole genome sequences from multiple individuals show that due to small population sizes and isolation, Texas quail are significantly more inbred and genetic drift is the major contributor for loss of genetic diversity we see today. Inbreeding is negatively impacting Texas quail as they carry more deleterious alleles within their genome that reduce fitness of the individuals. Demographic models predict that both Arizona and Texas populations were formed via founding bottlenecks around 20,000 years ago. Texas populations have maintained small population sizes since its split from the ancestral populations and are less efficient in purging new deleterious mutations that arise post-bottleneck. The inferences from my research not only carries direct implications for Montezuma Quail conservationists, but also illustrate the power of evolutionary genomics in implementing targeted management strategies for any species that face existential threats in today’s waning world.
Zhou, Sirui. "The role of evolution in the genetic susceptibility of intracranial aneurysm." Thèse, 2016. http://hdl.handle.net/1866/18563.
Повний текст джерелаNunavik Inuit is a group of Arctic indigenous people, who have historically presented as a small and isolated population across the Nunavik region of northern Quebec (Canada). The unique genetic profile of Nunavik Inuit is the result of years of adaptation to their living condition, and it is likely responsible for their increased susceptibility to certain pathological conditions. Prior studies have shown that as a consequence of neutral evolution or past adaptive events, today’s Inuit are predisposed to cardio-cerebrovascular disorders, e.g. hypertension and intracranial aneurysm (IA). IA is defined as localized cerebrovascular weakness which leads to vascular dilation or ballooning, and such distortions are susceptible to disrupt the affected vessels and lead to subarachnoid hemorrhage. It is a complex disorder with a high prevalence (4-8%) and certain populations have been observed to present an increased risk of developing IA. Both environmental and genetic factors are deemed to contribute to the development of IA and in regards to the latter, independent genome-wide association studies (GWAS) have identified multiple loci associated with IA. Nonetheless, there is still a large portion of the genetic heritability of IA, especially in different populations other than Finnish and Japanese that remains unexplained. However, fewer IA genetic studies have taken in consideration the contribution of population specific genetic variants. To address some of the IA missing heritability that is deemed to be accountable to its genetic heterogeneity and low penetrance, we have combined high throughput sequencing (HTS) with SNP-chip genotyping to examine the genetic signatures of two founder populations from Quebec that are predisposed to IA, including Nunavik Inuit and French-Canadians (FC). Because these populations have distinct genetic characteristics, we used different approaches for the identification of genetic risk factors. Nunavik Inuit is an indigenous population and many aspects of its genetic signatures differ from those of separate world-wide major populations; therefore we chose to conduct extensive population genetic studies in regards to their genetic history and genomic profile before we undertook to test if any association could be established between genomic loci and disease susceptibility. We observed many genetic components that are specific to the Nunavik Inuit population, including its homogeneous Inuit ancestry, increased linkage disequilibrium (LD) and genetic signatures which reflect the population had a long history of adaptations to their environment. Previously unidentified signals of natural selection, which focused on coding regions of the genome revealed an accumulation of genetic variants in genes involved in the processes of cell adhesion and immune responses (e.g. CPNE7 and ICAM5). Further analyses revealed a variant in CCM2 to be under positive selection and significantly associated with IA in Nunavik Inuit. In regard to the genetic etiology of IA in the French-Canadian population, we took a different approach and used French-Canadian specific variants that were identified by whole exome sequencing to generate a list of potential risk genes; which were further prioritized using a gene based burden association test. RNF213 emerged as a prime candidate gene that had undergone possible genetic drift and the follow-up genetic and functional examinations further supported its potential contribution to the development of IA among French-Canadians. The results presented in this thesis highlighted the importance of taking into consideration the specific genetic background brought by natural selection or genetic drift, both are driving forces of evolution, when a complex disease is being studied. It also further confirmed that variants in a specific gene (e.g. RNF213 or CCM2) may contribute to the development of different pathogenesis when examined in distinct populations. Overall as our genetic findings identified new genetic “pieces” that further completed the missing heritability “puzzle” of IA genetics; evidence for these “pieces” were interestingly highlighted through population genetics.
Mitterboeck, T. Fatima. "Consequences of Insect Flight Loss for Molecular Evolutionary Rates and Diversification." Thesis, 2012. http://hdl.handle.net/10214/3679.
Повний текст джерелаGenerously funded by NSERC with a Canada Graduate Scholarship and the Government of Ontario with an Ontario Graduate Scholarship to T. Fatima Mitterboeck; NSERC with a Discovery Grant to Dr. Sarah J. Adamowicz
Chami, Nathalie. "Genetic determinants of rare disorders and complex traits : insights into the genetics of dilated cardiomyopathy and blood cell traits." Thèse, 2017. http://hdl.handle.net/1866/19324.
Повний текст джерелаGenetic factors hold within them the answers to many questions we have on human traits, disease, and drug response among others. With time, the continuously advancing genetic tools have enabled us to examine those factors and provided and continue to provide astonishing answers. This thesis utilizes various methods of genetic tools such as exome sequencing and chip-based genotyping data in the context of both family and population-based analyses to interrogate the genetic factors that play a role in a rare disease, dilated cardiomyopathy (DCM), and in two complex traits, red blood cells and platelets. DCM is a rare disease that is defined by a dilated left ventricle and systolic dysfunction. It is estimated that 30% of DCM cases are hereditary and more than 50 genes have been linked to play a role in the pathogenesis of DCM. Genetic screening of known genes is a gold standard tool in the clinical management of familial DCM. However, in the majority of probands, genetic testing fails to identify the causal mutation. Blood cells play a variety of biological functions including oxygen transport, immunological functions, and wound healing. Levels of these cells and their associated indices are measured by a blood test, and deviation from optimal values may indicate certain disorders. Additionally, these traits are heavily studied in the context of cardiovascular disease (CVD) where different levels associate with a variable risk of CVD or are predictors of CVD complications or outcomes (for example, a higher level of white blood cells or lower level of hemoglobin). I examined both DCM and blood cell traits and aimed to discover new mutations and variants that are associated with each. For DCM, I evaluated the value of whole exome vi sequencing in a clinical setting, and I report a number of novel mutations in candidate genes (DSP, LMNA, MYH7, MYPN, RBM20, TNNT2) and truncating mutations in two newly established genes, TTN and BAG3, and I demonstrate that truncating mutations in the latter influence disease differently than other causal mutations. I also report a mutation in a novel gene, FLNC that causes a rare and distinct form of cardiomyopathy. In examining complex traits, I dissected the role of common and rare variants in red blood cells and platelets within a large consortium, the Blood Cell Consortium (BCX) using the ExomeChip, and identified 16 novel loci associated with red blood cell traits and 15 with platelet traits, some of which harbored low-frequency variants (MAP1A, HNF4A, ITGA2B, APOH), and demonstrated a substantial overlap with other phenotypes predominantly lipids. My results on DCM establish the role of a number of candidate genes in this disorder and suggest a different course of clinical management for patients that carry mutations in BAG3 and FLNC. As for blood cell traits, my results contributed to expanding the repertoire of loci associated with red blood cell and platelet traits and illustrate the importance of using large datasets to discover low-frequency or rare variants. Gene discovery in rare disease and complex traits gives insight into the underlying mechanisms which ultimately contributes to a better diagnosis, management, and treatment of disease.