Clinical and Translational

Rapid and comprehensive NGS variant interpretation using web-based software

1,066 views
December 12, 2018
NGS presents clinical laboratories with an ever-increasing amount of novel sequence variants that need to be interpreted in terms of their clinical relevance as transparently, accurately, and as fast as possible. In order to minimize inconsistencies between different labs, various guidelines for variant interpretation have been developed. Although these guidelines are very useful, they require a large set of criteria (like the 28 criteria of the American College of Medical Genetics and Genomics) that need to be assessed and checked for each variant. Doing this manually is very time-consuming.

Dr. Andreas Rump of the Institute for Clinical Genetics at Technical University Dresden shares how his lab tested the reliability and accuracy of QCI Interpret—QIAGEN’s web-based tertiary NGS interpretation platform. Dr. Rump’s team compared its manual interpretation of 278 missense variants in various genes with the automated interpretation from QCI Interpret.

The concordance of the interpretation results was very high. Dr. Rump found QCI Interpret to be fast, reliable, and guideline-compliant, making it a useful asset for labs that use large NGS panels for the diagnostics of multigeneic diseases.

Interested in learning more?

Click here


Related videos

Clinical and Translational

Increasing the efficiency of diagnostic odysseys

21 views September 16, 2019

Despite rapid cost reductions in sequencing technologies and an...

Clinical and Translational

The Human Gene Mutation Database: Empowering a Generation of Geneticists for Precision Medicine

821 views April 10, 2019

The Human Gene Mutation Database (HGMD) is a manually curated, comprehensive...

Clinical and Translational

Case Study: Genetic Testing Lab Sees 25-Fold Scaleup with QIAGEN Clinical Insight (QCI TM) Interpret

1,081 views October 04, 2018

This webinar offers a look at how an advanced genetics laboratory implemented...

Clinical and Translational

Managing Multiple Biomarker Therapeutic Development

39 views September 12, 2019

For the past two decades, the paradigm in the field has been “one biomarker,...