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.
Results
Showing 1 to 17 of 17 for “"Biobanks"”.
-
Impact of Biobanks on Research Outcomes in Rare Diseases：A Systematic Review
… tools and therapies for clinical practice. Biobanks (BB) are gradually becoming more recognised as invaluable tools to drive basic and translational research for RDs. BBs collect and store biological specimens with matched clinical data and patient metadata in an organised system, …
-
Research biobanks: mixed consent as the prerequisite for the freedom of biomedical research /
The purpose of the research biobanks is to collect human biological samples and the related information important for biomedical research, which in the future can be used for comprehensive scientific research. Such research would assist in creating new medicine, acquiring knowledge on the …
-
Statistical and Computational Methods to Dissect Ancestry-Biased Germline Effects in Lung Cancer
… summary statistics from European and Japanese biobanks. Using stratified linkage disequilibrium regression in conjunction wit gene expression-based and epigenetic annotations, we derive cell-types and biological processes associated with lung cancer and smoking in both populations.
-
Coleções de material humano para uso em pesquisa: controvérsias e redes na construção da regulamentação de biobancos e biorrepositórios no Brasil
… fact vs. value. This is the case with regards to biobanks and biorepositories that are intended for research, where the practices of collecting and handling human biological material and associated information for use in research. This also creates expectations for the development of health and …
-
Exploring Multivariate Gene-Environment Interactions: Models And Applications
… This, together with the collation of large-scale biobanks that contain a multitude of phenotypic and environmental data (facilitating an increase in the number of G$\times$E effects detected) has generated the need for methods that jointly account for G$\times$E at multiple environments. Such …
-
Privacy as a Social Concept
… associated with information technology and biobanks. My alternative account of privacy recognizes how deeply privacy is embedded in social norms and structure. Privacy does not apply to situations where an individual is in isolation, but rather depends on relations to others. This means that …
-
Identification of intravasation sites for metastatic biomarker development
… vasculature. Importantly, by working with biobanks and clinical collaborators, identified markers of intravasation will be validated against large clinical cohorts to provide actionable therapeutic targets and novel biomarkers for disease stratification, with the central goal of improving …
-
Human papillomaviruses in skin cancer and cervical cancer
… biobank-based case-control studies where biobanks were linked to cancer registries for identification of cancers that have occurred after donation of a serum sample. For patients with cervix cancer also formalin-fixed paraffin embedded tumour tissue was retrieved and tested for HPV DNA. In …
-
Genetic determinants of the human plasma proteome and their application in biology and disease
… novel bioassay technologies to major population biobanks.
-
Understanding the biological processes underpinning neurodegeneration in Xeroderma Pigmentosum
… patient-derived samples held in national brain biobanks and we can further explore these implicated pathways with the aim to determine how mutations in genes of the NER pathway result in the findings of this thesis. I have also explored the mutational signatures observed in XP and I present a …
-
Computational analysis of effects and interactions among human variants in complex diseases
… rare variants has become feasible thanks to the biobanks that made available genotypes and clinical data of thousands of patients. We characterize and explore the possible effects of rare coding inherited polymorphisms on protein interfaces in the UKBioBank trying to understand if the change in …
-
Novel Statistical Methods for Mediation Analysis with High-dimensional Omics Mediators
… studies within large-scale consortia or biobanks. We show that using summary statistics alone achieves promising coverage probability and comparable bias to individual-level data analysis, which requires more computational resources and financial resources. Finally, a multivariate …
-
An interdisciplinary approach leveraging human genetic variation to identify novel mechanisms of liver disease and pregnancy sickness
… of next-generation sequencing and population biobanks have resulted in a large number of cohorts with detailed phenotyping and genotyping, leading to an exponential rise in robust human genetic associations. In spite of this success, the number of genetic associations where there is even a …
-
Genetic studies of cardiometabolic traits
… distribution. As large cohorts and national biobanks with sequencing and deep multi-dimensional phenotyping become more prevalent, we will be moving closer to understanding the multiple aetiological mechanisms leading to CVD, and subsequently improve diagnosis and treatment of these …
-
CHARACTERISTICS OF CLINICAL NONTYPHOIDAL SALMONELLA ISOLATES FROM A HISTORICAL BIOBANK WITH A FOCUS ON THE INVASIVE SEROTYPE CHOLERAESUIS, LOMBARDY REGION (2001-2016)
… control. In this context, analyses of historical biobanks of clinical Salmonella strains represent an invaluable tool to improve knowledge of the biological, clinical, and epidemiological characteristics of the pathogen, as well as to investigate pathogenicity and antimicrobial resistance …
-
Genetic approaches to identifying causal pathways to cardiometabolic diseases
Background: In the era of large-scale biobanks and detailed multi-omic and clinical phenotyping, it is now possible to simultaneously measure several thousands of biological traits and test their associations with health outcomes. The unprecedented scale of the available epidemiological data has …