Stephanie Cornelis

My enthusiasm lies within figuring out computationally whether genetic variants (in ABCA4) are disease causing or not. Mainly based on frequency data combined with knowledge from case studies, family studies and panel papers. At the moment I am doing some data storage work: uploading genetic variants in ABCA4 onto the Leiden Open Variant Database (www.lovd.nl/abca4) when these variants are reported to be disease causing. In this way, everyone can make use of this publicly available data.