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).