Thesis supervisor: István Balogh
Location of studies (in Hungarian): University of Debrecen Abbreviation of location of studies: DEÁOK
Description of the research topic:
The project involves the state-of-the-art analysis of genetic rare diseases including whole exome and whole genome sequencing. The detected alterations would be functionally tested in order to prove the pathogenicity. These functional analyses include database search and in silico methods as well as experimental research on DNA, RNA, and protein level.