Use QCI Interpret as a variant analysis, interpretation, and decision support tool to evaluate genomic variants in the context of published biomedical literature, professional association guidelines, and publicly available databases. Quickly retrieve curated variant lists obtained from whole-exome or whole-genome sequencing.

The phenotype network feature provides curated evidence supporting gene-disease relationships. View the summary of the gene-disease clinical validity and a visual diagram of the paths from symptoms provided for a case to a candidate disease.  Actively add or remove symptoms (and diseases) to dynamically update the ranking of candidate diseases for variants.

The QIAGEN Knowledge Base contains published articles that refer to the specific variants, along with the categorization of the article types: clinical cases, functional studies, population studies, reviews, and other studies.

Clinical cases are deeply curated to gather specific evidence for automated computation of an ACMG-recommended pathogenicity classification into 5 categories: Pathogenic, Likely pathogenic, VUS, Likely benign, and Benign. For each computed classification, the criteria engaged are displayed along with the supporting evidence.

Use QCI Interpret to group, filter, and prioritize genetic variants from the variant lists. QCI Interpret helps simplify the data, making them easier to analyze by filtering data into several priority levels for gradual review from high priority to low. Sort your variants by pathogenicity in search for those that are clinically relevant.  

In QCI Interpret, you can inspect and evaluate the curated data to make a final decision on the pathogenicity assessment (Pathogenic, Likely pathogenic, VUS, Likely benign, Benign) and reportability status (allow the variant to be displayed on the final clinical report). When vetting the criteria in the Assessment window, you can easily add your own criteria for the final variant assessment.