Vytvoření nástroje pro zpracování dat z RNAseq analýz pacientů s leukemickým onemocněním
A tool for RNAseq data processing in patients with leukemia
Typ dokumentu
diplomová prácemaster thesis
Autor
Michaela Součková
Vedoucí práce
Klempíř Ondřej
Oponent práce
Kazantsev Dmitry
Studijní obor
Softwarové technologieStudijní program
Biomedicínská a klinická informatikaInstituce přidělující hodnost
katedra biomedicínské informatikyObhájeno
2023-06-21Práva
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The aim is to develop a bioinformatic Nextflow pipeline that would analyse RNAseq data of leukemic patients with the emphasis on fusion gene detection. Since gene fusions are believed to be associated with tumour phenotype, they have been of significant importance for clinical purposes, as well as for understanding tumorigenesis. With mapping current trends in RNAseq data processing and fusion detection, we provide a modular workflow consisting of processes that leverage suitable bioinformatic tools and manage fusion gene detection along with pre-processing and validation. The detected fusion candidates are preprepared as a formatted summary table for subsequent expert analysis. The aim is to develop a bioinformatic Nextflow pipeline that would analyse RNAseq data of leukemic patients with the emphasis on fusion gene detection. Since gene fusions are believed to be associated with tumour phenotype, they have been of significant importance for clinical purposes, as well as for understanding tumorigenesis. With mapping current trends in RNAseq data processing and fusion detection, we provide a modular workflow consisting of processes that leverage suitable bioinformatic tools and manage fusion gene detection along with pre-processing and validation. The detected fusion candidates are preprepared as a formatted summary table for subsequent expert analysis.