Peter Johansen

Biography

Currently i am working at the Department of Clinical Genetics, University hospital of Copenhagen, as a molecular biologist. My main responsibilities are to secure the laboratory function of the department’s non-invasive prenatal testing (NIPT) pipeline, which I was responsible for establishing using massive parallel sequencing (Ion proton platform). I furthermore sign clinical NIPT cases and facilitate the flow of information to diverse professional groups including technicians, doctors and IT personnel. I am furthermore deeply involved in the future strategy of the department regarding the future application of sequencing for clinical diagnosis, and am currently finishing my education as a clinical laboratory geneticist. My work in establishing NIPT included the initial lab work, and the bioinformatic analysis of sequence data. The pipeline is based on open-source scripts for fetal aneuploidy detection and fetal DNA fraction estimation, as well as an in-house developed fetal sex prediction algorithm. The developed pipeline involves programming/scripting in bash, perl and R. NIPT went live 1st of September 2015 after two years of dedicated work.

Research Interest

During my PhD, I have specialized in association of genetic markers to quantitative human physical traits, and we have, in collaboration with the Technical university of Denmark, developed a novel analysis tool to treat eye colour as a quantitative trait. I am well versed in both parametric and non-parametric statistical tests for genetic analysis. I am an avid teacher and disseminator, and have functioned as the daily supervisor of master students, given regular lectures to diverse professional groups, and presented at national and international conferences. I additionally teach at an annually summer course in forensic genetics at the university of Copenhagen, and have followed two courses on teaching at the university level.  Publications 7 as first/last author (1 shared) 10 Co-authorships 7 Proceedings 4 as collaborator