Meno: | Zuzana
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Priezvisko: | Klinovská
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Názov: | Combined prediction of genomic structural variants with low coverage sequencing
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Vedúci: | Dr. techn. Marcel Kucharík
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Rok: | 2020
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Kµúčové slová: | CNV detection, bioinformatics, CNV detection tools
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Abstrakt: | Duplications and deletions of different sections of DNA are a cause of various genetic disorders and diseases. In our work we compared tool that specialize in detection of these kind of deletions and duplications. Together we compared four different tools: CNV-caller, WisecondorX, iCopyDAV and CNVkit. W described used methods of the individual tools and listed some of their advantages and disadvantages. For this comparison we used 54 samples with confirmed deletions and duplications. Subsequently, we proposed a combined predictive model that improves the detection of mentioned phenomenon.
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