Dr. techn. Marcel Kucharík – Researcher and bioinformatician at Geneton. He obtained his doctoral degree at the prestigious University of Vienna in the field of informatics – bioinformatics. During his doctoral studies, he published three articles in the journal Bioinformatics, two of which were first-author. He has currently published 11 publications, co-authored 2 European patent applications and is also a co-investigator of the international H2020 project focused on bioinformatics of Pangenomes, which also studies the genomic sequences of SARS-CoV-2.
His main focus is the detection and analysis of copy number variants (CNV), which are carriers of several diseases and syndromes, but also common variance in the population. He also works on projects leading to a better understanding and genotyping of STR, automation of CNV interpretation in terms of clinical practice, anonymization of genomic data and research in the field of non-invasive prenatal diagnosis. He regularly participates in international scientific conferences, where he presents his results through posters and presentations.