| Meno: | Dária
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| Priezvisko: | Čárska
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| Názov: | Detection of microsatellite instability from genomic data obtained by next generation sequencing
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| Vedúci: | Mgr. Jaroslav Budią, PhD.
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| Rok: | 2020
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| Kµúčové slová: | microsatellites, microsatellite instability, short tandem repeats, genomic variability, human genome
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| Abstrakt: | Microsatellites are repetitive stretches of short DNA sequences with a highly variable number of repetitions between individuals in the population. Certain cancer types are associated with the microsatellite instability that refers to the hypermutability of short repetitive sequences. In the bachelor thesis we specifically focused on monomeric microsatellites also called homopolymers. We analysed genotypes of the Slovak population and determined the population-specific frequencies. Then we compared the genetic variants of genetically remote populations as well as healthy individuals with oncological patients. In our analysis, we show that homopolymers identified in samples of oncological patients significantly divert from common forms observed in general populations, and thus may be used as a potential biomarker for detection and monitoring of oncological diseases.
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