For Hereditary Disease Applications
For over two decades, QCI Interpret, QIAGEN’s clinical variant interpretation and reporting software, has combined the unmatched accuracy and consistency of QIAGEN’s proprietary expert (MD/PhD) curation with the superior efficiency of machine curation (AI-powered curation) to enable high-confidence variant interpretation and reporting.
The below graphic illustrates the curation process of QCI Interpret.
QCI Interpret pulls content from all public and proprietary databases, clinical articles for the most prevalent disease genes, and thousands of clinical articles for rare disease genes. Curation then occurs by artificial intelligence (AI) approaches, manual curation, or a combination of both. All content then goes through rigorous quality control to ensure consistency, accuracy, and reproducibility.
Therefore, QCI Interpret customers receive human-certified content for more than 1,000 routinely tested genes that QIAGEN’s curation team monitors daily and AI-derived literature references for the remaining genes in the clinical exome to supplement QIAGEN curated content. This not only affords significant time-savings in the prioritization, assessment, and interpretation of clinically relevant variants, but ensures diagnostic labs have access to complete and trusted evidence as they onboard and deploy larger gene panels.