Role within GHGA: Team member, OC- Member
Institution: Technical University of Munich
Workstream: Workflows, Data Hub Operations
I studied bioinformatics in Munich. After working as a tutor and HiWi in different labs, I found my passion in supporting rare disease diagnostics. During my master thesis I developed methods to prioritize variants from WES and WGS. To overcome the limitations of variant interpretation, I developed tools to detect aberrant gene expression and splicing events in RNA-seq data. These aberrant events can be directly linked to genetic variants and thus used to diagnose rare diseases, where WES or WGS fail.
My main goal in GHGA is to build and manage the Munich data hub. While setting up the IT infrastructure in Munich, I will also ensure that the necessary workflows for analysis and quality control of incoming data are developed and deployed.