This webinar will present the results of an evaluation of a web-based variant interpretation software system for clinical next-generation sequencing.
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.
In this webinar, Andreas Rump of the Institute for Clinical Genetics at Technical University Dresden will share his lab’s experience testing the web-based variant analysis software Qiagen Clinical Insight – Interpretation (QCI-I).
Dr. Rump’s team compared its manual interpretation of 278 missense variants in various genes with the automated interpretation from QCI-I. The concordance of interpretation results was very high.
Dr. Rump will share the results of the assessment, which found that QCI-I is fast, reliable, and standard-compliant, making it a useful asset for labs that use large NGS panels for the diagnostics of multigenic diseases.