Radboudumc Technology Center Bioinformatics

What is bioinformatics

The field of bioinformatics concerns the processing and analyzing of large amounts of biological data using computational methodologies. Bioinformatics combines expertise from many scientific disciplines, like biology, mathematics, statistics, computer science and biochemistry. Bioinformatics analysis can be applied to all sorts of biodata, but the biggest source of data comes from within the cell; genetics and DNA organization, gene expression and protein structures.

How do we apply bioinformatics

Since the completion of the human genome and introduction of high throughput sequencing, the application of bioinformatics has shifted from a purely academic venture towards more clinical use-cases. With the revolution in sequencing, more and more reliable information can be gathered from our cells. Think of investigating disease causing mutations, finding gene expression profiles that lead to cancer metastasis, or analyzing protein structures to identify drug targets.

The RNA-DxP pipeline

At the RTC Bioinformatics, we get the most support requests for RNA Sequencing analysis. In order to both serve our clients and to contribute to a data-driven heathcare, we created the RNA-DxP pipeline. With this pipeline we aim to create a RNA-Seq data analysis workflow which is robust, reproducible and scalable, while still being innovative and feature complete. RNA-DxP is suitable for both biological as biomedical research, human and model organisms. We are working together with the Radboudumc department of Genetics to make RNA-DxP available for patient diagnostics purposes. The current features are:

• Advanced QC and Metrics
• Differential Gene Expression
• Alternative and Differential Splicing
• Fusion Gene detection
• Splice Junction analysis
• Pathway & GO Enrichment
• EnrichR and String Annotation
• RNA Variant Calling and Annotation
• Automated reporting and visualizations
• Scaled for projects of any size