Modern sequencing technologies that enable the digitization of genomic material have brought revolutionary changes in the approach to diagnosing and researching various human diseases. A key element of the process is bioinformatics tools and procedures used to analyze digitized genomic data. While these technologies have introduced new possibilities for clinical diagnostics, they also present challenges related to processing large volumes of data.
Using specific examples, we will demonstrate the applications of these tools in prenatal diagnostics, monitoring pathogenic viruses, characterizing antibacterial resistance, as well as their potential for personalized oncology.