Jana Krejcikova, MSc

PhD student

jana.krejcikova@lfmotol.cuni.cz

Molecular Genetics Group

Neurogenetics Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital

Scientific background

At the Neurogenetics Laboratory of the Department of Paediatric Neurology, Second Faculty of Medicine, Charles University in Prague, I am involved in the research and genetic diagnostics of hereditary neurological diseases. During my work experience I gained skills in preparation of libraries for exome sequencing with subsequent evaluation of obtained data and long-read sequencing (Nanopore). After one year of my internship I was given the opportunity to begin my Ph.D. studies. My Ph.D. project focuses on the analysis and evaluation of exome and genome sequencing data from patients with neurogenetic disease.

Research interests

I am interested in the use of the latest genomic methods in genetic diagnostics. I focus on the possibility of combining sequencing data obtained by long and short reads, which could lead to more accurate analysis of CNV and intronic variants. Our aim is to increase the percentage of patients with confirmed diagnosis and thus contribute to a more accurate diagnosics and targeted treatment.