Case Stories

Identifying rare disease variants

1,801 views
January 10, 2017
Dr. Rump, PhD, head of Molecular Genetics Group at the Institute for Clinical Genomics in Dresden, uses 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.

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