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 12 of 12 for “"genomic testing"”.
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Application of Informatics Tools to Facilitate the Practice of Precision Medicine with Genomic Testing and Clinical Data
… to the gene selection practices of pharmacogenomic (PGx) tests effectively communicated large amounts of information into concise heatmaps. After a thorough search identifying potential PGx tests, their detection rates were assessed based on their gene targets and the genomic frequencies of …
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Psychosocial Impact of Paediatric Early Rapid Genomic Testing and Diagnosis: A Mixed Methods Study of Parental Adjustment, Adaptation, Risk and Resilience
… care units being eligible for rapid trio testing (rWGS). In the UK, the Next Generation Children Project (NGC; French et al., 2019, 2022) was the first large cohort of infants and children (521 families) to have received rapid trio WGS analysis for any suspected single gene disorder during …
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Evaluating long term benefits of genomic selection programs in beef cattle breeding programs in Western Canada
… was conducted to evaluate long-term benefits of genomic selection programs in natural service multi-sire breeding programs in Western Canada. A total of 24 breeding groups and 117 sires (some repeated) were followed over 6 breeding and calving years to determine the association between sire …
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INCORPORATING EMR AND GENOMIC DATA USING NLP AND MACHINE LEARNING TO REFINE CANCER TREATMENT
… vast amounts of clinical data, including genomic testing results. In contrast to numerical data, majority of EMR are unstructured free text and not easy to be processed by computers. In this study, we explored how natural language processing (NLP) and machine learning can help to evaluate …
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Genetics, genomics and precision medicine: Innovations in childhood cancer care through the eyes of families and oncology professionals
… medicine in childhood cancer care, including genomic testing for cancer predisposition syndromes, requires close examination of the experiences of key stakeholders. Taking a multi-perspective, mixed-methods approach, I conducted an in-depth investigation of the experiences of young patients, …
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Statistical foundations for precision medicine
… these concepts. HCM has proven tractable to genomic sequencing, which guides risk stratification for family members and tailors therapy for some patients. However, these benefits carry risks. I show how genomic misclassifications can disproportionately affect African Americans, amplifying …
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Deciphering the genetic and epigenetic basis of human imprinting and chromatin disorders
… methylation patterns, including disturbances in genomic imprinting, have been linked to congenital imprinting disorders as well as various disease conditions, including cancer, chromatin disorders, and neurodevelopmental disorders. Some imprinting disorders, however, result in alterations in …
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The Need For Racial and Ethnic Health Disparity Curriculum In Genetic Counseling Programs
… spectrum of genetic counseling, particularly in genomic testing and access to care. While cultural competency and health disparities have been included as a part of the <em>Standards of Accreditation for Genetic Counseling</em>, there have not been previous efforts to define what topics related …
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Breeding and technological innovations in dairy and beef cattle markets
… Dairy Herd Improvement Program started testing bulls for their genetic traits to provide better information to guide dairy farmer’s breeding decisions with the help of breed associations and the United States Department of Agriculture (USDA). These tests called Large Scale Genetic …
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Accurate Mutation Annotation and Functional Prediction Enhance The Applicability of -Omics Data In Precision Medicine
… focused on two important topics in translational genomics.</p> <p>1) Developing a computational approach to resolve ambiguities in existing clinical genomic annotations and to facilitate correct diagnostic and treatment decisions. I have developed a multi-level variant annotator, TransVar, to …
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Cost-utility analysis of EML4-ALK fusion testing followed by treatment with crizotinib in patients with Non-Small Cell Lung Cancer (NSCLC)
… or 'personalized medicine' in NSCLC include testing the tumor for the genetic mutations and tailoring the treatment against specific mutations found in the tumor. Success in targeted therapies has been achieved for a small sub-set of NSCLC patients who harbor specific mutations. In 2012, …
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Assessing Genetics Providers' Perspectives of and Experiences with DTC Genetic Testing: Creation of an Educational Module
<p>Purpose: Direct-to-consumer genetic testing exemplifies the evolution of the medical genetics field towards more encompassing genomic medicine and the implementation of personalized medicine. This "at home" type of genetic testing can be ordered from the Internet and mailed for analysis without …