CORDIS Project
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This project develops new computational methods to analyze structural variations in the human genome that contribute to diseases and cancer. By integrating various sequencing technologies, it aims to improve detection and understanding of these genetic alterations, enhancing clinical diagnostics.
Structural variations are genomic alterations affecting portions of the chromosomes longer than 50 base pairs.
These alterations are a main contributing factor to human diseases and different types of cancer.
The main limitation of current approaches for the analysis of structural variations lies in their unreliability in characterizing these alterations in repetitive and hard-to-call regions of the genome.
Structural variations falling in these regions can not be routinely detected and their si…
UNIVERZITA KOMENSKEHO V BRATISLAVE
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