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Dissertations / Theses on the topic 'Whole-of-population'

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1

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.

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Models of whole-brain connectivity are valuable for understanding neurological function. This thesis seeks to develop an optimal framework for extracting models of whole-brain connectivity from clinically acquired diffusion data. We propose new approaches for studying these models. The aim is to develop techniques which can take models of brain connectivity and use them to identify biomarkers or phenotypes of disease. The models of connectivity are extracted using a standard probabilistic tractography algorithm, modified to assess the structural integrity of tracts, through estimates of white
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2

Zhou, 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.

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The revolution in next-generation sequencing has made obtaining both common and rare high-quality sequence variants across the entire genome feasible. Because researchers are now faced with the analytical challenges of handling a massive amount of genetic variant information from sequencing studies, numerous methods have been developed to assess the impact of both common and rare variants on disease traits. In this report, whole genome sequencing data from Genetic Analysis Workshop 18 was used to compare the power of several methods, considering both family-based and population-based designs,
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3

Manyisa, 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.

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Introduction: Hearing impairment occurs when a child has hearing loss greater than 30dB in their better hearing ear and an adult cannot detect sound lower than 40dB in the better hearing ear. It is a common sensory disorder that affecting approximately 360 million worldwide, with an incidence of 6 in 1000 live births in developing countries such as those in Sub-Saharan Africa. 50 % of hearing impairment, in developed countries, is due to genetic factors, with 70% of genetic hearing impairment being classified as non-syndromic hearing impairment, which occurs when the hearing impairment present
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4

Gladstein, 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.

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<p> In 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 comput
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5

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.

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6

Sanders, 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.

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7

Mohamed, 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.

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8

Hsieh, 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.

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Reconstructing the origins and evolutionary journey of humans is a central piece of biology. Complementary to archeology, population genetics studying genetic variation among individuals in extant populations has made considerable progress in understanding the evolution of our species. Particularly, studies in indigenous humans provide valuable insights on the prehistory of humans because their life history closely resembles that of our ancestors. Despite these efforts, it can be difficult to disentangle population genetic inferences because of the interplay among evolutionary forces, includin
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9

Williamson, 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.

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Previously considered a disease of importance strictly to veterinary medicine Cryptosporidium has emerged as a highly successful opportunistic parasitic protozoan posing a significant threat to public health. Intricate transmission dynamics, a complex epidemiology, and parasite robustness and persistence have all hampered efforts for the prevention and control of Cryptosporidium. Genetic diversity is a prerequisite to better understand the role of parasite variation in disease etiology and pathobiology. The extent of genetic structure among C. hominis and C. parvum, the two most prevalent spec
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10

Maceda, 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.

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In this work we present a new whole genome sequencing dataset with samples gathered from the Spanish Eastern Pyrenees (SEP) with more than 40x coverage. We apply both classical and new methods to unveil their particular demographic histories and we present the use of a newly in-house developed algorithm to detect genetic barriers taking into account the use of geo-statistics. With these analyses we detect fine population substructure for the first time in this region. We also report the presence of an important batch effect in one of the most important datasets used in genomics: the 1,0
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11

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.

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The concept of species in bacteria is a matter of contention. The current definition is based on DNA-DNA hybridisation and does not account for evolutionary forces that are important in demarcating species. In this thesis we investigate two evolutionary forces that are important in speciation in bacteria, propose novel statistical models for them and infer parameters of interest. We present the first attempt at inferring the bias in the recombination process from whole bacterial genomes. Despite empirical evidence that recombination is biased and theoretical results that this bias is important
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12

Finnegan, 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.

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The basking shark, Cetorhinus maximus, has historically been a target of international fisheries, leading to well-documented declines in parts of its global distribution. Currently, the basking shark is listed as globally ‘Vulnerable’ and regionally ‘Endangered’ (North Pacific and Northeast Atlantic) on the IUCN Red List of Threatened Species, rendering the species an international conservation priority. Here, we assessed the global matrilineal genetic population structure and evolutionary history of the basking shark by completing the first whole mitochondrial genome sequence level survey of
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13

Kozma, 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.

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From an ecological perspective, knowledge of demographic history is highly valuable because population size fluctuations can be matched to known climatic events, thereby revealing great insight into a species’ reaction to past climate change. This in turn enables us to predict how they might respond to future climate scenarios. Prominently, with the advent of high-throughput sequencing it is now becoming possible to assemble genomes of non-model organisms thereby providing unprecedented resolution to the study of demographic history and speciation. This thesis utilises four species of grouse (
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14

Bradshaw, 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.

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This investigative study identified a missense moesin protein variant R171WMSN as the disease-causing mutation in an unknown primary immunodeficiency disorder (PID) through an exome sequencing (WES) approach. As PIDs can confer incidence of lymphoproliferative disorders, candidate genes and variants identified by WES were also investigated in another lymphoid abnormality, i.e. non-Hodgkin lymphoma (NHL), to determine association with NHL subtypes. In addition, variants located within microRNAs and their targets were investigated in association with NHL susceptibility in an Australian cohort of
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15

Walsh, 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.

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Africa is the origin source of modern humans. Despite that African populations harbor the highest levels of genetic diversity worldwide, they remain underrepresented in genetic studies. Therefore, in order to fully understand modern human evolutionary history it is fundamental to include more African populations in genetic studies. The work in this thesis is a small contribution to the study of African evolutionary history. In particular we have focused on two different locations of Africa, eastern and southern Africa. We have tried to unravel candidates of positive (or adaptive) selection thr
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16

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.

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Erreger des Leishmania donovani Komplexes (LDC) verursachen viszerale Leishmaniose (VL), eine der häufigsten durch Sandmücken übertragenen Infektionskrankheiten beim Menschen. Die vorliegende von der EU geförderte Dissertation untersucht die weltweite Populationsstruktur des LDC mit besonderem Schwerpunkt auf dem Indischen Subkontinent (ISC), wo das gehäufte Auftreten von Therapieversagen ein Problem für die geplante Eliminierung von VL darstellt. Zwei hoch diskriminierende molekulare Typisierungsverfahren wurden angewendet. 845 LDC-Isolate wurden mittels Multi-Lokus-Mikrosatelliten-Typisierun
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17

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.

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Understanding the transmission dynamics of infectious diseases is important to well-informed public health policy, responsive infection control and individual patient management. The on-going revolution in whole-genome sequencing provides unprecedented resolution for detecting evidence of recent transmission and characterising population-level transmission dynamics. In this thesis, I develop and apply evolutionary approaches to investigating transmission, focusing on three globally important pathogens. Hepatitis C virus (HCV) is a major cause of liver disease affecting 150 million people and k
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18

Mondal, 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.

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Human genome project published their first human whole genome sequence on 2001 at the cost of billions of dollars. Since, the cost of sequencing is decreasing faster than Moore’s law. Now, we not only have sequenced thousands of modern humans’ whole genome, we also obtained whole genome sequences of extinct hominin and other ancient modern humans with relatively good quality. These sequences granted us some unexpected results: like how recently modern humans left Africa and populated around all over the world (which is called recent African origin model) while doing so how they have admixed wi
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19

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.

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The aim of this doctoral thesis was to study the incidence, risk factors and outcomes of type 1 diabetes for children in South Australia, born from 1999-2013. The incidence of type 1 diabetes has doubled in the last four decades in many countries including Australia, and has substantial individual and economic consequences. Evidence from studies on type 1 diabetes aetiology and its implications is mixed. In this thesis, the linkage of multiple population-wide administrative data over 15 years, and use of rigorous epidemiological approaches has resulted in a better understanding of the risk fac
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20

Madzanire, Daniel. "An education strategy to reduce cultural conflict in schools administered by mines in Zimbabwe." Thesis, 2015. http://hdl.handle.net/10500/21603.

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Cultural conflict is endemic in diverse societies and schools. It manifests in both subtle and overt ways, permeating the whole school environment and posing tremendous challenges for society. The purpose of this study is to devise an education strategy to reduce cultural conflict in schools administered by mines in Zimbabwe, with a particular reference to language and teacher capacity to cope with diversity in mining-town schools. This study was guided by three theoretical frameworks: Bourdieu’s capital theory, Nussbaum’s cosmopolitan education theory and unhu/ubuntu moral theory. Nine models
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21

(9760598), Samarth Mathur. "AN EVOLUTIONARY GENOMICS STUDY FOR CONSERVATION OF THE MONTEZUMA QUAIL." Thesis, 2020.

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<p>Humans 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
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22

Zhou, Sirui. "The role of evolution in the genetic susceptibility of intracranial aneurysm." Thèse, 2016. http://hdl.handle.net/1866/18563.

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Les Inuits du Nunavik regroupent des peuples autochtones de l'Arctique qui au fil de l’histoire ont formé une petite population isolée dans la région du Nunavik (nord de la province de Québec, Canada). Le profil génétique unique des Inuits du Nunavik est le résultat d’une adaptation à leur milieu de vie et il est considéré comme lié à certaines de leurs susceptibilités pathologiques. Une évolution neutre, ainsi qu’une suite d’événements adaptatifs, ont façonné le génome de ces Inuits et indirectement engendré leur prédisposition accrue à certains troubles cardio-vasculaires et cérébro-vasculai
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23

Mitterboeck, T. Fatima. "Consequences of Insect Flight Loss for Molecular Evolutionary Rates and Diversification." Thesis, 2012. http://hdl.handle.net/10214/3679.

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This thesis investigates the molecular evolutionary and macroevolutionary consequences of flight loss in insects. Chapter 2 tests the hypothesis that flightless groups have smaller effective population sizes than related flighted groups, expected to result in a consistent pattern of increased non-synonymous to synonymous ratios in flightless lineages due to the greater effect of genetic drift in smaller populations. Chapter 3 tests the hypothesis that reduced dispersal and species-level traits such as range size associated with flightlessness increase extinction rates, which over the long term
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24

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.

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Les facteurs génétiques peuvent apporter des réponses à plusieurs questions que nous nous posons sur les traits humains, les maladies et la réaction aux médicaments, entre autres. Avec le temps, le développement continu d'outils d'analyse génétique nous a permis d'examiner ces facteurs et de trouver des explications pertinentes. Cette thèse explore plusieurs méthodes et outils génétiques, tels que le séquençage pan-exomique et le génotypage sur puce, dans un contexte d'analyse familial et populationnel pour étudier ces facteurs génétiques qui jouent un rôle dans une maladie rare, la cardiomyop
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