Qualification goals

The module provides basic knowledge of human genetics and state-of-the-art diagnostic and bioinformatic analysis methods. Students will be able to reproduce the central principles of human genetics and apply a wide range of 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 (UCSC Genome Browser, Database of Genomic Variants, GnomAD).

Internship:

After working on specific case studies, students will be able to independently plan and carry out the work steps required for molecular genetic diagnostics. The focus is on the bioinformatic analysis of large data sets from whole exome sequencing using appropriate pipelines. They will be able to assess detected gene mutations (single nucleotide variants (SNPs) and copy number variants (CNVs)) with regard to their pathogenicity and discuss the significance of the results of these investigations in detail. After completing the internship, students will have an understanding of the possibilities and limitations of the respective diagnostics.