Genetics
Browse by
Collections in this Academic/Research Unit
-
Genetics (Scholarly Publications)
Genetics (Scholarly Publications) -
Genetics (Theses and Dissertations)
Genetics (Theses and Dissertations)
Recent Submissions
-
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 ... -
Modulation of mitochondrial function as a therapeutic strategy for Stargardt disease and an exploration of the genetic architecture of Stargardt disease in Ireland
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2024)Inherited retinal degenerations (IRDs) are an extremely heterogeneous group of disorders, together representing the most common cause for vision loss in young people. An estimated 5.5 million people globally are living ... -
Gene duplication in the coral genus Acropora
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2024)Whole Genome Duplications (WGD) pose major evolutionary events, giving rise to increased gene diversity. They have often been associated with major changes e.g. mass extinctions. The coral genus Acropora is a reef-building ... -
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
(2023)The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of pheno types, however, for thousands of cases the underlying variants remain unknown. Here, we aim ... -
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients
(2023)Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic ...