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.