QIAGEN believes that tomorrow’s diagnoses begin with insight today.
While other companies tend to focus on workflow instrumentation, we focus
on extracting actionable information from NGS data–the last mile in the
race for diagnosis of a rare genetic disease.
QIAGEN’s HGMD® Human Gene Mutation Database has been selected by Genomics
England to support a national network of United Kingdom laboratories that provides
all genetic testing for National Health Service (NHS) patients across the country.
“With the Biomedical Genomics Workbench and Ingenuity Variant Analysis, 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.”
Andreas Rump, PhD, Head of Molecular Genetics Group, Institute for Clinical Genetics, Dresden, Germany
“..there are clear benefits for adopting QIAGEN Clinical Insight (QCI®) for reference identification: an exceptionally high variant-specific article coverage, and significant time savings in a search process that can take up to ~45 minutes. QCI has already proven a valuable resource for increasing the efficiency of Counsyl’s in-house curation.”
Counsyl, San Francisco, CA