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Andreas Rump, PhD, is head of Molecular Genetics Group at the Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany. He chooses Biomedical Genomics Workbench to compare exomes in rare and inherited diseases, and to identify the cause of the disease. With increasing amounts of variant and annotation data, the right informatics tools and techniques are indispensable for Dr. Rump and his team, allowing them to not only create the data via NGS but also to explore it and formulate new ideas.

Drive new discoveries


rare disease

For those researching novel diseases, exploring NGS data with confidence is a critical component to success. They rely on solutions with superior read processing, efficient read alignment and variant calling, automatic variant annotation and sophisticated but easily adapted workflows. Dr. Rump’s lab has increased its NGS output significantly in the past two years. His tools must meet the demands of productivity and be easy for his team to use when they are examining variants to identify rare disease.

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We are not programmers. We don’t like to work with command lines. We chose [Biomedical Genomics Workbench] because it’s very convenient … Everything is easy to modify, easy to shape, and easy to control.

Andreas Rump, PhD, head of Molecular Genetics Group, Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany.

See Dr. Rump’s ESHG 2016 presentation


Uncover signals leading to breakthroughs

By providing a detailed logbook of analysis steps and parameter settings, Biomedical Genomics Workbench allows Dr. Rump to return to his data and retrace his steps — which was especially important when he found discrepancies. Since all variants influence the outcome, detailed log information enabled him to trouble-shoot and re-evaluate as needed. Back-checking variants to the original read mapping also helped him to avoid pitfalls due to parameter settings.

Facilitating complex
data analyses

According to Dr. Rump, “detecting a rare genetic disease is already a discovery.” As researchers, he and his team want their tools to be reliable and simple; they wanted sophisticated but adaptable workflows for trio analysis to facilitate complex data analyses. Biomedical Genomics Workbench features a broad selection of end-to-end analysis workflows, tools, and visualization modules, enabling easy and accurate discovery, verification, and validation of novel disease biomarkers. For Dr. Rump and his team, the workbench offers simple yet powerful computing power that enables novel insights and the identification of rare disease. In turn, Rump’s work provides patients with knowledge about their condition.

Watch the tutorial