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Bc. Viktória Bendíková

Master's thesis

Detection and analysis of short variants in mitochondrial DNA

Detection and analysis of short variants in mitochondrial DNA
Abstract:
Mitochondrie sú kritické organely eukaryotických buniek, ktoré majú vlastnú DNA. Variácie v mitochondriálnej DNA sú čoraz viac spájané s komplexnými ochoreniami, čo podčiarkuje dôležitosť vývoja stratégií pre ich presnú identifikáciu a analýzu. Táto práca sa zaoberá výzvami spojenými s identifikáciou a analýzou variácií v mitochondriálnej DNA. Výsledkom je používateľsky prívetivý a flexibilný program …more
Abstract:
Mitochondria are critical organelles of eukaryotic cells, which possess their own DNA. Variation in mitochondrial DNA is being increasingly linked to complex diseases, underlying the importance of developing strategies for their accurate identification and analysis. This thesis addresses the challenges associated with identifying and analyzing variations in mitochondrial DNA. We develop a user-friendly …more
 

Keywords

mitochondrial DNA variant detection GATK pipeline bioinformatics
 
Language used: English
Date on which the thesis was submitted / produced: 15. 12. 2023
Identifier: https://is.muni.cz/th/g7i5j/

Thesis defence

  • Date of defence: 13. 2. 2024
  • Supervisor: doc. Ing. Matej Lexa, Ph.D.
  • Reader: Mgr. Eva Budinská, Ph.D.

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Institution archiving the thesis and making it accessible: Masarykova univerzita, Fakulta informatiky
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Masaryk University

Faculty of Informatics

Master programme / field:
Artificial intelligence and data processing / Bioinformatics and systems biology

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