We are pleased to announce that the Winter 2023 Release of QCI Interpret Translational, QIAGEN’s web-based software application for the annotation, classification, and research of somatic and germline variants, is now available.
Expanding on the software’s current capabilities, the QCI Interpret Translational Winter 2023 Release brings new variant classification and assessment tools, greater customization, and even more variant content for prevalent hereditary diseases for faster, more informed variant analysis.
QCI Interpret Translational now offers a new optional Triage Mode inline assessment tool to accelerate variant review workflows. The Triage Mode can be toggled on and off (Figure 1).
For novel unassessed variants, the Assessment, Actionability (somatic workflow only), and the Reportability values match the Computed Classification. Users can then add assessment notes (Figure 2). This new feature is intended to help high volume laboratories quickly assess and triage variants.
QCI Interpret Translational’s literature coverage of genes, involved and associated with disease(s), strongly differentiates QCI Interpret Translational from other NGS variant assessment software by providing a fully certified and manually curated bibliography of approximately 1,000 genes with continuous expansion.
In the QCI Interpret Translational Winter 2023 Release, the bibliography coverage is enhanced and expanded with a focus on genes that are routinely tested and proposed for carrier screening by the latest ACMG practice resource (Genetics in Medicine (2021) 23:1793–1806; https://doi.org/10.1038/s41436-021-01203-z).
Specifically, the bibliography coverage was fully certified and manually curated for Tier 3 genes with continued curation of Tier 4 genes, to provide a comprehensive and complete carrier screening interpretation workflow based on the latest ACMG recommendations summarized below:
In QCI Interpret Translational, a new ClinVar column displays the assessment (P, LP, VUS, LB, B) and number of ClinVar submitters as pulled from the QIAGEN Knowledge Base. A hyperlink takes the user to the respective ClinVar VCV page (phenotype agnostic) (Figure 3).
Pathogenic (P), Likely Pathogenic (LP), VUS, Likely Benign (LB), and Benign (B) interpretations sent to ClinVar are tallied. The hyperlink takes the user to the NCBI variant specific page for additional detail.
For the complete QCI Interpret Translational Winter 2023 Release Notes, please contact your QIAGEN Digital Insights account representative or email our support team at ts-bioinformatics@qiagen.com.
QCI Interpret Translational is a web-based software application for the annotation, classification, and research of variants from next generation sequencing (NGS) data in genomic laboratories. Using augmented molecular intelligence and expertly curated content from the QIAGEN Knowledge Base, QCI Interpret Translational uses evidence-based approaches to automatically compute pathogenicity classifications (Pathogenic to Benign) and actionability classifications (Tier 1 to 4) for each alteration according to the 2015 professional guidelines from the American College of Medical Genetics and Association for Molecular Pathology (ACMG/AMP) [1] and the 2017 guideline from the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists (AMP/ASCO/CAP) [2], respectively.
Pathogenicity and actionability classifications in QCI Interpret Translational are accompanied by clear visibility into the criteria and evidence supporting the classifications. This workflow starts with a variant call format (VCF) file, so it is compatible with the output from any NGS platform. The final analysis is sample-specific and includes candidate causal variants, their deep annotations, interpretations, and references specified throughout the assessment process. The assessment process also has customized automation allowing for even more streamlined variant research workflows.
QCI Interpret Translational helps research labs:
We are pleased to announce that the Winter 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 Winter 2023 Release brings new variant classification and assessment tools, functionality improvements, and even more variant content for prevalent hereditary diseases for faster, more informed variant analysis.
QCI Interpret now offers a new optional Triage Mode inline assessment tool to accelerate variant review workflows. The Triage Mode can be toggled on and off (Figure 1).
For novel unassessed variants, the Assessment, Actionability (somatic workflow only), and the Reportability values match the Computed Classification. Users can then add assessment notes (Figure 2). This new feature is intended to help high volume laboratories quickly assess and triage variants.
QCI Interpret’s literature coverage of genes, involved and associated with disease(s), strongly differentiates QCI Interpret from other decision support software by providing a fully certified and manually curated bibliography of approximately 1,000 genes with continuous expansion.
In the QCI Interpret Winter 2023 Release, the bibliography coverage is enhanced and expanded with a focus on genes that are routinely tested and proposed for carrier screening by the latest ACMG practice resource (Genetics in Medicine (2021) 23:1793–1806; https://doi.org/10.1038/s41436-021-01203-z).
Specifically, the bibliography coverage was fully certified and manually curated for Tier 3 genes with continued curation of Tier 4 genes, to provide a comprehensive and complete carrier screening interpretation workflow based on the latest ACMG recommendations summarized below:
In QCI Interpret, a new ClinVar column displays the assessment (P, LP, VUS, LB, B) and number of ClinVar submitters as pulled from the QIAGEN Knowledge Base. A hyperlink takes the user to the respective ClinVar VCV page (phenotype agnostic) (Figure 3).
Pathogenic (P), Likely Pathogenic (LP), VUS, Likely Benign (LB), and Benign (B) interpretations sent to ClinVar are tallied. The hyperlink takes the user to the NCBI variant specific page for additional detail.
For the complete QCI Interpret Winter 2023 Release Notes, please contact your QIAGEN Digital Insights account representative or email our support team at ts-bioinformatics@qiagen.com.
QCI Interpret is a clinical decision support software platform for the annotation, classification, and reporting of actionable alterations from NGS data for oncology and hereditary disease applications. Using augmented molecular intelligence and expertly curated content from the QIAGEN Knowledge Base, QCI Interpret applies a rules-based approach to automatically compute pathogenicity classifications (Pathogenic to Benign) and actionability classifications (Tier 1 to 4) for each alteration according to professional guidelines from ACMG/AMP and AMP/ASCO/CAP, respectively.
Pathogenicity and actionability classifications in QCI Interpret are accompanied by clear visibility into the criteria and evidence supporting the classifications. This workflow starts with a variant call format (VCF) file, so it is compatible with the output from any NGS platform. The final report includes the alterations, interpretations, and references specified throughout the assessment process, which has customizable automation capabilities allowing for streamlined clinical decision support workflows.
We are very pleased to announce the latest QCI Interpret software release is now available. Expanding on the software’s current capabilities, the update brings major content and functionality improvements to better support the exon-level interpretation and reporting of copy number variants (CNVs).
Improved handling of CNVs and structural variants (SVs)
QCI Interpret is now able to handle CNVs and SVs more comprehensively than before. The software has been improved to better consume, process, and visualize these variant types at the level of exon and breakpoints. QCI Interpret allows you to better assess the physical structure, functional impact, and clinical relevance of copy number alterations and gene fusions detected in NGS secondary analysis pipelines. By utilizing the Test Product Profile (TPP) capability copy number variants in genes of interest are now more accurately described.
Bibliography support for CNVs
With the addition of breakpoint-level and feature-level matching for CNVs, QCI Interpret now supports confident assessment of bibliography content for CNVs of interest. Users can explore clinically relevant CNV findings from the Human Gene Mutation Database (HGMD) and from expert-curated content from the QIAGEN Knowledge Base. New bibliography features allow users to quickly identify and capture relevant references to determine the significance of the variant of interest and to include in clinical reports.
Additional interpretation support for CNVs
With the new release, users can access more resources to support the interpretation of CNV variants with active links to public databases including GnomAD, DECIPHER, DGV and dbVar.
CNV classification calculator for hereditary workflows
In the hereditary workflow experience exon-level classification of constitutional copy-number variants using our new CNV classification feature. This is based on the technical standards published by ACMG and ClinGen .
Improved support for METex14 and EGFRvIII splice variants
With improved structural variant handling, two prominent exon skipping mutations: METex14 and EGFRvIII, are classified more accurately and reveal relevant treatments and clinical trials. This ultimately drives better reporting with treatment options for exon variants detected from RNA.
Integration with DNAnexus through the QIAGEN QCI Connector
In the DNAnexus ecosystem, QIAGEN has published a tool to help DNAnexus pipeline owners terminate the output of bioinformatics pipelines in QCI Interpret for tertiary interpretation.
Platform performance improvements
With the new release, numerous back-end improvements have been made to QCI Interpret to make these calculation-intensive operations more efficient.
For information about the latest release, please contact customer support at ts-bioinformatics@qiagen.com.
