Latest QCI Interpret 2023 Release supports clinical exome with advanced AI capabilties

In its latest release, QCI Interpret advances market-leading NGS interpretation software with artificial intelligence-driven insights to enable clinical exome completeness.

We are pleased to announce that the 2023 Release of QCI Interpret, QIAGEN’s decision support software platform for the annotation, classification, and reporting of somatic and germline variants, is now available.

Expanding on the software’s current capabilities, the QCI Interpret 2023 Release extends its market-leading, unrivalled content with further advancements in Artificial Intelligence (AI) to enable clinical exome completeness, enhanced phenotype driven ranking, and improved literature searches.

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QCI Interpret 2023 Release highlights for hereditary and oncology applications

• QCI Interpret leverages artificial intelligence (AI) to expand the bibliography: To provide broader coverage of the clinical exome, AI-derived literature references have been integrated into the Bibliography section. The new Source icons, “Context” disease details, and “Show Phenotype-Related References Only” filter provide full control over the use of these automatically extracted references.    
• Enhanced, AI-trained phenotype-driven ranking: Variant-specific qualities are now taken into account beyond the similarity of the gene–disease phenotypic spectrum to patient symptoms by providing an improved PDR score ranking of candidate variants for rapid clinical exome review. 
• Improved ACMG PVS1 criteria with the modified strength workflow and informative notices: ClinGen's PVS1-modified strength recommendations are now applied to improve the ACMG classification of loss of function variants. PVS1 notices indicate the specific decision tree branch applied. 
• Gene transcripts with MANE select status are now the default: QCII embraces this community effort to standardize clinical transcripts for reporting. “MANE Select” and “MANE Plus Clinical” labels appear in the variant viewer dropdown, in the "Effect on Protein" section of the Variant Details page.   
• More precise structural variant filtering: The Confidence filter now supports thresholds for copy number gains, losses, fusions, and rearrangements. A “gene-associated structural variants” filter enables retention of structural variants that are partly in non-coding gene regions.    
• Enhanced accuracy of the Somatic reporting policy: The 1-year expiration was removed for user set assessments in Somatic reporting policies v1 and v2. User assessments are now automatically re-reported indefinitely in new cases for all reportability types, including artifacts. 
• New workflows for streamlined report revisioning and labeling: A new Label Report button on the Review and Report page enables the addition (or removal) of a report label including Addendum, Amendment, Correction, or custom text. The new Addend Report button on signed out tests creates a copy, that is labeled with Addendum, to facilitate issuing an updated report. API enhancements enable a new report to replace an existing one (correction) or creation of an amended/addended report copied from an existing report with updated information (such as patient or physician information) provided via the API. The report label can be displayed on customized reports. A fee may apply to update existing customized report templates. 

Understanding QCI Interpret's manual and AI curation

The latest release of QCI Interpret for Hereditary includes AI enhanced coverage of thousands of rare disease genes. The below graphic illustrates the improved curation process for QCI Interpret, showing how all content is initially extracted using AI and machine learning, the most prevalent disease genes undergo human-certified curation, and all content undergoes rigorous quality control to ensure consistency and accuracy.

Learn more about QCI Interpret

QCI Interpret is clinical decision support software that combines 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. Advanced features enable clinical diagnostic labs to rapidly identify pathogenic variants, improve diagnostic yields, and reduce turnaround times. Panel- and sequencer-agnostic, QCI Interpret can be fully customized to accommodate gene panels, exomes, and genomes.

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