For genetic testing labs, missing even one article among millions can mean the difference between a diagnosis or an inconclusive result. With the world’s largest knowledge base, QCI Interpret for Hereditary Diseases gives you the best possible chance of solving any case in the shortest amount of time.
QCI Interpret is a clinical decision support software powered by augmented molecular intelligence that helps clinical labs not only make faster decisions—but the right decisions.
Connected to the exclusive QIAGEN Knowledge Base, the industry’s most comprehensive, manually curated resource that is updated weekly, QCI Interpret for Hereditary delivers variant-specific, scientific evidence in context of phenotype or diagnosis. Interactive filters prioritize variants and proprietary algorithms dynamically and transparently compute ACMG/AMP variant classifications, enabling users to generate evidence-based reports with efficiency, confidence, and reproducibility.
The content core of QCI Interpret for Hereditary, the QIAGEN Knowledge Base is the world’s largest source of globally trusted molecular knowledge. Built manually over 30 years by hundreds of MD- and PhD-level expert curators and augmented by artificial intelligence to rapidly identify, extract, and enhance evidence, the QIAGEN Knowledge Base is unrivalled in breadth, depth, and accuracy. To date, the QIAGEN Knowledge Base has been trusted to analyze and interpret NGS data from over 2.5 million clinical cases worldwide.
Expanding on the software’s current capabilities, the QCI Interpret Winter 2022 Release adds new features and guidelines, including:
Built over 2 decades, the QIAGEN Knowledge Base leverages machine learning to rapidly index journal articles for mutations and human judgment and expertise (Augmented Molecular Intelligence) to ensure accuracy, relevance and context—every catalogued “finding” has been “touched” by a trained scientist.
The QIAGEN Knowledge Base is built on our own comprehensive ontology that uniformly models relationships between different entities, such as the relationship between a variant, the gene that it resides in, and the observed phenotype. The superior structured content ensures consistency and computability.
The QCI Interpret workflow starts with a variant calling format (VCF) file and it is compatible with any NGS platform. You can chose to upload multiple-sample VCF files for different patients, or multiple single sample VCF files for samples from the same patient. Manually enter metadata to contextualize the uploaded VCF file in the hereditary workflow.
Add any phenotypic information related to the uploaded VCF file and take advantage of QIAGEN’s phenotype driven analysis in order to minimize turnaround time and focus on the region of interest with only a couple of mouse clicks.
Use QCI Interpret’s proprietary Interactive Filter Cascade (view filter here) to access 5 different filters to triage variants with granular control:
QCI Interpret uses a rules-based approach to automatically compute pathogenicity classifications (Pathogenic to Benign) according to the professional guidelines from the American College of Medical Genetics and Association for Molecular Pathology (ACMG/AMP). Simplify your data for easier analysis by filtering them into several priority levels for gradual review from high priority to low. Look further into the ones that have been classified by QCI Interpret as Pathogenic and Likely Pathogenic (see how here).
Pathogenicity classifications in QCI Interpret are accompanied by clear visibility into the evidence and criteria supporting the classifications. In addition, you can manually add a rationale for each of the rules triggered if desired and adjust the strength of the final assessment if additional data is available (see how here).
Review the literature as an essential step in the variant assessment process
QCI Interpret provides the most up-to-date, expertly curated extensive bibliography coverage (published clinical studies, including treatment and prognostic studies, functional studies, review articles, and other types) with multiple lines of evidence linking variants to a disease. Bibliography is categorized by article type for every variant detected and includes all findings that have been curated from the published literature as well as findings that have been imported from specific databases (view sample bibliography here).
Inspect and evaluate the curated data to make a final decision on the pathogenicity assessment and reportability status (allow the variant to be displayed on the final clinical report). You can easily add your own criteria for the final variant assessment in the Assessment window (see how here).
With QCI Interpret for Hereditary, you can be confident that every clinical recommendation you make is backed by the latest peer-reviewed publications, clinical practice guidelines, FDA therapeutics, and open clinical trials, all vetted by M.D. and Ph.D.-level expert curators who do the reading for you.
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.
Want to see what content QCI Interpret for Hereditary Diseases can provide for your variants? Please complete the form below and our experts will show you the depth of content that our software provides for your specific variants.