End-to-end hereditary disease solution

Our hereditary disease solution enables clinicians and clinical researchers to identify the disease-causing variant in more patient cases in less time. Streamlined data analysis and interpretation for large panels, exomes, and genomes are facilitated by components of Biomedical Genomics Workbench, Biomedical Genomics Server Solution, Ingenuity Variant Analysis, and HGMD.

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With the Biomedical Genomics Workbench and Ingenuity Variant Analysis one step trio workflow in Biomedical Genomics Workbench, 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, Dresden University Hospital, Germany

Watch the webinar

Solving hereditary diseases using bioinformatics solutions
for clinical exome and whole genome data analysis and interpretation

See a presentation about the benefits of the solution and how it works on data from the CAGI John Hopkins challenge

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