Qualification goals
By learning the basics of human genetics and state-of-the-art diagnostic methods, graduates of this module are able to pursue careers in biomedical/clinical research and diagnostics as well as in the pharmaceutical industry.

Competencies
Lecture: Students are familiar with modern methods of human genetic diagnostics, in particular the various high-throughput sequencing methods and the procedure for classifying gene variants. They have an understanding of the case-oriented use of cytogenetic, molecular cytogenetic and molecular genetic examination methods and have the skills to differentiate between insignificant normal variants and pathogenic variants in the human genome that are the cause of a hereditary disease. They are familiar with public databases (Exome Variant Server, UCSC Genome Browser, LOVD - Leiden Open Variation Database, Database of Genomic Variants).
Internship: After working on specific case studies, students are able to independently plan and carry out the necessary steps for molecular genetic diagnostics. They will be able to assess the pathogenicity of detected genetic alterations and discuss the significance of the results of these examinations in detail. After completing the internship, students will have an understanding of the possibilities and limitations of the respective diagnostics.