Thesis Details
Computational Methods for Annotation Analysis of Genetic Variations
Analysis and interpretation of DNA variations is very crucial for research trying to solve genetic background of heritability, diseases and other traits. This thesis briefly introduces the field of molecular biology and basic principles of genetics, discusses genetic variation annotation methods, genome-wide association studies and enrichment analysis methods with their implementation algorithms. As a part of this thesis, we introduce a novel web tool called Varanto that can be used to annotate, visualize and analyse genetic variations. It can be used to perform hypergeometric test based annotation enrichment analysis for a set of genetic variations. Varanto includes a web based user interface developed using Shiny web application framework for R. Varanto's performance and functionality is tested and showcased by performance benchmarks and by analysing and interpreting data from previously published genome-wide association studies.
bioinformatics, genetics, enrichment analysis, hypergeometric test, annotation methods.
Bartík Vladimír, Ing., Ph.D. (DIFS FIT BUT), člen
Martínek Tomáš, doc. Ing., Ph.D. (DCSY FIT BUT), člen
Meduna Alexander, prof. RNDr., CSc. (DIFS FIT BUT), člen
Steingartner William, Ing., Ph.D. (TUKE), člen
Zbořil František, doc. Ing., Ph.D. (DITS FIT BUT), člen
@mastersthesis{FITMT17653,
author = "Tibor F{\"{u}}l{\"{o}}p",
type = "Master's thesis",
title = "Computational Methods for Annotation Analysis of Genetic Variations",
school = "Brno University of Technology, Faculty of Information Technology",
year = 2015,
location = "Brno, CZ",
language = "english",
url = "https://www.fit.vut.cz/study/thesis/17653/"
}