Case Stories

Identifying rare disease variants

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.

Related videos

Case Stories

Clinical genomic sequencing: Where we’ve been, where we are, and where we’re going

1,458 views September 23, 2016

Presented by Dr. Josh Deignan, Ph.D., F.A.C.M.G.

Case Stories

Transcriptome analysis of Kupffer cells after uptake of pancreatic cancer exomes

1,750 views May 23, 2016

Presented by Principal Scientist, Dr. Jean-Noel Billaud, at AACR 2016

Case Stories

Unraveling the genomic complexity of common and rare genetic disorders

1,195 views May 22, 2015

Unraveling the genomic complexity of common and rare genetic disorders: NGS...

Case Stories

The importance of a good bioinformatics pipeline for determining TMB score

67 views February 17, 2020

Tumor mutational burden is an important biomarker for immuno-oncology. Dr...