Browsing University of Galway Theses by Subject "Bioinformatics"
Now showing items 1-17 of 17
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Analysis and interpretation of epigenomic patterns in colonic epithelia
(2015-12-18)The methylation of cytosine nucleotides at the 5' position of DNA is a crucial epigenetic mechanism for the control of gene expression. Epigenome-wide associated studies have demonstrated that specific methylome patterns ... -
Analysis of clonal mutations in cancer as a means of studying variation in somatic mutation processes
(NUI Galway, 2023-09-13)Somatic mutations are mutations that arise throughout a person’s lifetime. They contribute to ageing, cancer and other age-related disorders. Recent technological advances led to many studies investigating somatic ... -
Analysis of gene regulation using high throughput genomics
(2012-10-23)The recent development of high-throughput genomics techniques and their subsequent applications have completely transformed the study of biology. The analysis, interpretation and storage of the resulting large volumes of ... -
Analysis of hepatic microRNA expression in postpartum dairy cows in negative energy balance
(2014-05-27)This thesis sets about to answer three research questions grounded in transcriptional regulation of hepatic genes in the high yielding postpartum dairy cow under negative energy balance (NEB). For this purpose we used ... -
Analysis of hepatic microRNA expression in postpartum dairy cows in negative energy balance
(2014-05-27)This thesis sets about to answer three research questions grounded in transcriptional regulation of hepatic genes in the high yielding postpartum dairy cow under negative energy balance (NEB). For this purpose we used ... -
Analysis of putative somatic mutations in 200,000 human exomes
(NUI Galway, 2023-09-19)Somatic mutations accumulate throughout life and contribute significantly to disease risk. While research into somatic mutation is well established in cancer, it is only in recent years that investigations into the ... -
Differences in immunogenicity between cancer mutation signatures shed light on immunoediting
(NUI Galway, 2024-04-15)Immunoediting is a process through which the immune system plays a role in shaping the mutational landscape of cancer and, consequently, in cancer progression. One critical aspect of immunoediting is the phenomenon known ... -
Dissecting the pan-placodal gene regulatory network reveals novel interactions driving sense organ development in vertebrates
(2016-02-17)The genes encoding the transcription factor Six1, and its co-factor Eya1 together mark the embryonic territory - the pan-placodal ectoderm (PPE) - that gives rise to most cranial sense organs in vertebrates. Mutation of ... -
An epigenomics approach to characterize alterations in disease
(NUI Galway, 2023-01-13)Epigenetics is the term that describes all the mechanisms that regulate the genomic activities such as transcription, DNA repair, DNA replication, transposon duplication. There is a great variety of epigenetic mechanisms ... -
The genomic architecture of nucleolar organiser regions on the short arms of human acrocentric chromosomes
(2015-09-29)Nucleolar Organiser Regions (NORs) are comprised of ribosomal gene (rDNA) arrays and adjacent sequences. Nucleoli, the sites of ribosome biogenesis and key regulators of cellular growth and proliferation, form around NORs. ... -
Investigating the genetics of deep learning derived neuro imaging phenotypes of brain disorders
(NUI Galway, 2024-04-17)Brain disorders are collections of debilitating phenotypes that can affect cognition and general life quality via a myriad of symptoms, including mood swings, memory loss, altered thought processes, and psychosis. Despite ... -
Investigation of intron coevolution and the autoimmune potential of alternative splicing
(2016-07-20)Introns are non-coding intergenic sequences that are routinely excised from nascent pre-mRNA transcripts by a process known as splicing. Although they do not contribute directly to the protein-coding sequences of genes, ... -
Investigation of T cell receptor and immunoglobulin repertoire through next generation sequencing data
(2017-08-08)The diversity of the immunological repertoire has long been a subject of research focus, providing important insights into the adaptive immune system. Rapid developments in next generation sequencing technologies ... -
Novel insights into allele-specific expression and translation in human lymphoblastoid cell lines through integrative analysis of transcriptomic and ribosome profiling data
(NUI Galway, 2018-08-20)The rate of mRNA translation makes an important contribution to determining protein abundance in cells and genetic variants that affect the rate at which a protein is synthesized may give rise to human genetic diseases and ... -
Pathogen genomics of methicillin resistant staphylococcus aureus and leishmania
(2017-02-15)Infectious diseases caused by the single-celled eukaryotic parasite Leishmania and the methicillin-resistant Staphylococcus aureus (MRSA) bacterium are major public health problems in many countries. In this thesis, I use ... -
The role of genomic data in stratifying patients within predictive models for breast cancer survival outcome
(NUI Galway, 2024-04-15)Genomic instability (GI), defined as an increased tendency for genomic alterations to occur, is a common feature of cancers and is recognised as a “facilitating” hallmark of cancer. Genomic alterations include base ... -
Single-cell characterisation of the bone marrow microenvironment and its contribution to acute myeloid leukemia
(NUI Galway, 2024-04-09)The human bone marrow is a complex tissue, responsible for replenishing the entire blood system. It comprises many types of hematopoietic as well as non hematopoietic cells that together coordinate the production of ...