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With Biomedical Genomics Workbench and Ingenuity Variant Analysis’ one step TRIO workflow we were able to identify the disease causing variant directly in our whole exome sequencing TRIO family. As there were no additional, non-disease causing candidates to filter out, the time to result and the manual hands on time could be reduced by more than 50% in comparison to our standard workflow.
Dr. Andreas Rump, University Hospital Dresden, Germany