Results - Details
Search command : Author="Καλαϊτζάκη"
And Author="Μαρία"
And Author="Λυδία"
Current Record: 1 of 1
|
Identifier |
000426445 |
Title |
Γονιδιωματική τμηματοποίηση. Διερεύνηση μεθοδολογιών για την τμηματοποίηση ευκαρυωτικών γονιδιωμάτων με συγκεκριμένα χαρακτηριστικά |
Alternative Title |
Genome Segmentation. Investigation of methodologies for the delination of chromosomal domains with specific characteristics in eukaryotic genomes. |
Author
|
Καλαϊτζάκη, Μαρία Λυδία
|
Thesis advisor
|
Νικολάου, Χριστόφορος
|
Reviewer
|
Μπερτσιάς, Γεώργιος
Παυλίδης, Παύλος
|
Abstract |
Expanded Next-Generation Sequencing technologies and their improved precision allow for a new
approach in the field, which is segmentation of data derived from RNA-Seq experiments, to identify
gene clusters, gene boundaries and genes follow a pattern of differential expression. In the present
work, the iSeg segmentation method (Girimurugan, SB, et al., 2018), as well as the DFOE method,
developed by our team, were used to segment genomes based on gene expression data and identify
wider regions. increased expression in one dimension, i.e. in linear chromosomes. RNA-seq analysis
was performed on whole blood samples of 200 individuals. 142 individuals were previously diagnosed
with TFE and 58 were healthy. The primary conclusion, which came from the application of the DFOE
method to the SLE patient data set, was the significantly greater genome coverage of areas of increased
expression in patients compared to healthy controls. This coverage was also positively correlated with
disease activity, indicating that in addition to elevated expression levels, patients with SLE tend to be
over-expressing in targeted regions of the genome. When performing the method of finding statistically
significant genomic segments resulting from the DFOE algorithm, we were able to isolate significant
regions in both healthy and patients. From further analysis with GprofileR, it was observed that a large
proportion of the functions found to be related to the genes of the found fragments are related to TFE
disease. The results obtained from the above work appear to be characterized by an abundance of
information. Further analysis of the above data could lead to both the identification of disease-related
signals and the discovery of new biomarkers.
|
Language |
Greek |
Subject |
DFOE |
|
ISEG |
|
Lupus |
|
NGS |
|
RNA-SEQ |
|
SLE |
|
Λύκος |
|
Μέθοδοι τμηματοποίησης |
|
ΣΛΕ |
Issue date |
2019-12-11 |
Collection
|
School/Department--School of Medicine--Department of Medicine--Post-graduate theses
|
|
Type of Work--Post-graduate theses
|
Permanent Link |
https://elocus.lib.uoc.gr//dlib/3/4/b/metadata-dlib-1575289319-830604-21139.tkl
|
Views |
251 |