Browsing by Subject "genetics"
Now showing items 1-19 of 19
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Exploring the Genetics of Unresolved Inherited Retinal Diseases in Ireland
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)The Target 5000 study was established in 2009 with a primary goal to develop a national care pathway for inherited retinal disease patients in Ireland. Participants first undergo a clinical assessment, which includes ... -
Fly model causes neurological rethink
(2013)A Drosophila model for a neurological disorder called type 2B Charcot- Marie-Tooth disease reveals that it has its origins in a partial loss of function, rather than a gain of function, which points to the need for ... -
Genes predict village of origin in rural Europe.
(2010)The genetic structure of human populations is important in population genetics, forensics and medicine. Using genome-wide scans and individuals with all four grandparents born in the same settlement, we here demonstrate ... -
Genome-wide association analysis identifies six new loci associated with forced vital capacity.
(2014)Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 ... -
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.
(Nature Publishing Group, 2009-11-15)Ulcerative colitis is a common form of inflammatory bowel disease with a complex etiology. As part of the Wellcome Trust Case Control Consortium 2, we performed a genome-wide association scan for ulcerative colitis in 2,361 ... -
Harmonization of Neuroticism and Extraversion phenotypes across inventories and cohorts in the Genetics of Personality Consortium: an application of Item Response Theory.
(2014)Mega- or meta-analytic studies (e.g. genome-wide association studies) are increasingly used in behavior genetics. An issue in such studies is that phenotypes are often measured by different instruments across study cohorts, ... -
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
(2014)To identify common variants influencing colorectal cancer (CRC) risk, we performed a meta-analysis of five genome-wide association studies, comprising 5626 cases and 7817 controls of European descent. We conducted replication ... -
The Multilayered Prehistory of Wild Aurochs and Domestic Cattle
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2018)This thesis explores 122 ancient genomes of domestic cattle and wild aurochs to investigate past population events such as domestication and admixture. Population genomics of ancient taurine domestics from the ancient Near ... -
Persistent, ancient constraints shape copy number and expression variation of dosage-sensitive genes
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2017) -
A Precision Medicine Approach to Natriuretic Peptide-Guided Risk Prediction and Treatment: A Retrospective Analysis in the STOP-HF Cohort
Introduction: Individual studies show that NP-guided treatment is an effective intervention for the prevention of HF. We hypothesised that this approach may be optimised utilising a precision medicine approach. Methods: ... -
The Psychosis Susceptibility gene ZNF804A: associations, functions and phenotypes
(2010)As the first gene to have achieved genome-wide significance for psychosis, ZNF804A has predictably been a subject of intense research activity. We review the evidence to date for the association between schizophrenia and ... -
Regulation of microRNA biosynthesis and expression in 2102Ep embryonal carcinoma stem cells is mirrored in ovarian serous adenocarcinoma patients.
(2009)Background: Tumours with high proportions of differentiated cells are considered to be of a lower grade to those containing high proportions of undifferentiated cells. This property may be linked to the differentiation ... -
The role of FKBP5 genetics and epigenetics in mediating the effects of early life adversity on emotional processing brain regions in major depressive disorder
(Trinity College Dublin. School of Medicine. Discipline of Psychiatry, 2018)Major depressive disorder (MDD) is the most widespread psychiatric illness and is characterized by loss of pleasure, depressed mood, sleep disturbances and anxiety. Recently, an inflammatory theory of MDD has emerged, which ... -
Stasis and flux: A genomic study of 20,000 years of European prehistory.
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)This thesis presents whole-genome shotgun sequencing data from 79 ancient humans, spanning 20,000 years of European prehistory, from the Upper Palaeolithic to the Iron Age. The aim of this research was to fill in missing ... -
Using Micro-Synteny for Phylogenetic Inference and Analysis
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2024)Phylogenetics is the study of the evolutionary relationships and history of groups of organisms. Over the past twenty years, the burgeoning number of sequenced genomes has revolutionised the field of phylogenetics taking ...