Institute of Medical Bioinformatics and Systems Medicine

BSc Molekulare Medizin Modul 13 - „Statistik, Bioinformatik, Epidemiologie und evidenzbasierte Medizin“ - Teil Bioinformatik

Bioinformatics plays a central role in molecular medicine, particularly in the context of molecular tumor boards (MTBs), where genetic information is used to make treatment decisions. Bioinformatics helps to efficiently evaluate and interpret biological data, especially data generated by modern sequencing methods.
A central concept is the flow of information from DNA to RNA to proteins. Changes at the DNA level can be made visible using sequencing technologies such as next-generation sequencing (NGS). Bioinformatics makes it possible to systematically analyze these changes and understand their potential implications.
The “Bioinformatics” section of Module 13 focuses on RNA sequencing and DNA sequencing. The following aspects are explored in depth:

RNA sequencing (RNA-seq) is used to determine which genes are read and in what quantities. A typical process includes planning, sequencing, quality control, and normalization of the data. Statistical methods such as principal component analysis (PCA) and differential gene expression analyses then help to reveal differences between samples. Gene set enrichment analyses (GSEA) are used for biological interpretation, showing which biological processes or signaling pathways are involved.

DNA sequencing focuses on the detection and classification of genetic variants. Depending on the method (e.g., WGS, WES, panel), different areas of the genome can be examined. Bioinformatic methods identify variants such as point mutations, insertions/deletions, or larger structural changes and link them to potential disease relevance using databases. Complex biomarkers such as tumor mutation burden or mutation signatures can also be characterized in this way.