Meno: | Jakub
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Priezvisko: | Drobný
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Názov: | Local Enrichment of Genomic Annotations
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Vedúci: | doc. Mgr. Bronislava Brejová, PhD.
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Rok: | 2025
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Kµúčové slová: | bioinformatics, genomic annotation, algorithms and data structures
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Abstrakt: | Genomic annotation identifies functional elements within a genome and maps them into
a set of non-overlapping intervals. In order to find a biological connection between two
annotations one may choose to compare the overlap of their intervals. Even in randomly
generated annotations an overlap can be observed, and therefore we need to evaluate
the overlap under a suitable null model. Existing algorithms solving this problem
perform such analysis on the whole genome, but they do not identify regions with
significant overlap within the genome. In this thesis we extend one of these algorithms
to address this issue. Our algorithm is able to perform such analyses efficiently on any
set of genomic windows, even overlapping ones. Our C++ implementation introduces
a significant performance improvement, and we utilize it to analyze real human genome
data, successfully identifying significantly enriched and depleted regions.
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