Clinical and Translational

Rapid and comprehensive NGS variant interpretation using web-based software

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

314 views September 16, 2019

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

Clinical and Translational

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

1,370 views October 04, 2018

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

Clinical and Translational

How to reduce your test turnaround for large panels in molecular oncology

262 views December 31, 2019

Speaker: Sheryl Elkin, CSO, N-of-One.a QIAGEN Company Interested in learning...

Clinical and Translational

LeukoVantage: A Quest/Qiagen Partnership Providing Clinical Insights Into Myeloid Malignancies

262 views December 09, 2019

The integration of next-generation sequencing (NGS) into the diagnostic...