Detection of inherited disease mutations


QIAGEN Digital Insights

Detection of inherited disease mutations

This webinar highlights our highly accurate and integrated end-to-end NGS analysis solution for the discovery of novel, and clinically relevant, rare and inherited disease causing variants, from various sample types in just one step.

Dr. Anika Joecker, Global Product Manager, presents the easy to use end-to-end hereditary disease workflows in Biomedical Genomics Workbench and Ingenuity Variant Analysis, as well as the Allele Frequency Community – an extensive, high-quality, ethnically diverse collection of human allele data for use as a reference set. The presentation will also touch upon the impact of accuracy and time-savings associated with reducing the number of false positives when searching for disease causing mutations in NGS data.

If you’d like to know more about how our hereditary disease solution addresses the NGS analysis bottleneck by delivering seamless and highly accurate end-to-end workflows for the identification and interpretation of causal variants you should read our recent press release. A laboratory using this new hereditary disease solution can achieve a case solve rate as high as 100%, while significantly reducing the rate of irrelevant variants for follow-up by 98% to 100%. These close to perfect solve rates are not possible using any other bioinformatics solution available in the market today, according to the latest benchmarking study that we presented at ASHG. The solution is cost-effective and can handle a high volume of samples (for example, 18,000 whole genomes per year).

More information

Biomedical Genomics Workbench
Ingenuity Variant Analysis
Press release: QIAGEN launches new bioinformatics solution hereditary diseases