Μοντέλα ανάπτυξης γενετικών βιοδεικτών με χρήση αναλυτικής των δεδομένων
Genetic bio-indices development using data analytics
Master Thesis
Author
Αποστόλου, Κωνσταντίνα
Apostolou, Konstantina
Date
2022-09Advisor
Μπερσίμης, ΣωτήριοςBersimis, Sotiris
View/ Open
Keywords
Genomics ; Genomic medicine ; Precision medicine ; Genome-wide association studies ; Polygenic risk scoreAbstract
Since the first sequencing of the human genome in 2003, human genetics has undergone a
real revolution due to the wide availability of datasets with genetic information and the
introduction of bioinformatics in this field. New genetic discoveries are enabling an
understanding of how genes interact with various lifestyle or environmental factors, in a move
towards more effective clinical control. Genome-wide association studies (GWAS) aim to
identify genotype-phenotype associations by testing for differences in the frequency of allelic
genetic variants between individuals. The typical goal of GWAS is to identify loci harboring
causal variants and use genetic risk factors to make predictions about who is at risk and to
develop new prevention and treatment strategies. A simple and intuitive approach to converting
genetic data into a predictive measure of disease susceptibility is to aggregate the effects of
these loci into a single measure, the polygenic risk score (PRS). Some research that has been
carried out to find biomarkers is also presented.