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


Streamlined, easy,
and customizable

Our hereditary disease solution is the only FASTQ-to-insight solution on the market. Our easy-to-run, flexible, and extensible end-to-end analysis and interpretation workflows are built on our best practices to identify causal variants in all rare and inherited diseases. No bioinformatics expert knowledge required.

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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