Discovering new genes implicated in hereditary diseases or cancer progression is challenging yet advancing rapidly due to the increase in next-generation sequencing (NGS) cohort data. These data analyses produce insights into associations between gene variants and diseases and the biological mechanisms of these gene variants.
By combining QIAGEN CLC Genomics Workbench, QCIIT and QIAGEN IPA, you can analyze sequencing data obtained from a variety of NGS technologies, annotate gene variants using the world’s most comprehensive and up-to-date curated scientific evidence and find biological connections in gene variants with manually curated scientific findings. Using a streamlined NGS analysis workflow, you’ll get valuable and reliable insights for your research project and speed up your discoveries.
In this training, you’ll:
Discovering new genes implicated in hereditary diseases or cancer progression is challenging yet advancing rapidly due to the increase in next-generation sequencing (NGS) cohort data. These data analyses produce insights into associations between gene variants and diseases and the biological mechanisms of these gene variants.
By combining QIAGEN CLC Genomics Workbench, QCII-T and QIAGEN IPA, you can analyze sequencing data obtained from a variety of NGS technologies, annotate gene variants using the world’s most comprehensive and up-to-date curated scientific evidence and find biological connections in gene variants with manually curated scientific findings. Using a streamlined NGS analysis workflow, you’ll get valuable and reliable insights for your research project and speed up your discoveries.
In this training, you’ll:
Learn how QCI Interpret Translational can get your research to the next level by providing you all the necessary analysis tools with the world’s most comprehensive and up-to-date curated scientific evidence. Get valuable and reliable insights for your research project and speed up your discoveries by using a streamlined NGS analysis workflow in a user-friendly interface without needing bioinformatics expertise.
In this webinar, attendees will have the opportunity to:
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:
QCI Interpret Translational's latest software update comes with several new features, including a new workflow for comprehensive cancer panels and greater variant coverage for labs using the GRCh38 reference genome
We are pleased to announce that the Summer 2022 Release of QCI Interpret Translational, QIAGEN’s web-based software application for the annotation, classification, and research of variants from next generation sequencing (NGS) data in genomic laboratories, is now available. Expanding on the software’s current capabilities, the QCI Interpret Translational Summer 2022 Release brings new workflows, variant content and functionality improvements.
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:
Learn more about QCI Interpret Translational here.
Whole-exome sequencing (WES) using next-generation sequencing (NGS) technology is a powerful tool for investigating variants linked to genetic disease. It provides a high-resolution, unbiased view across the entire exome to discover causative variants of inherited disorders. However, the vast amounts of data produced by WES require comprehensive data analysis tools that can efficiently translate the raw sequencing data into meaningful, interpretable results. To address these challenges, QIAGEN Digital Insights offers QCI Interpret Translational.
QCI Interpret Translational is a NGS variant assessment software solution that enables rapid, evidence-powered variant annotation, filtering, and triage for human exome, genome, and large cohort sequencing data. QCI Interpret Translational rapidly identifies the most compelling disease variants in human sequencing data by combining powerful analytical tools and unparalleled content from the QIAGEN Knowledge Base. The QIAGEN Knowledge Base is the industry’s largest collection of biological and clinical findings, with roughly 2,000,000 unique variants expertly curated from over 300,000 scientific articles, including 140,000 variants connected to the top 200 newborn/carrier screening genes.
QCI Interpret Translational enables:
QCI Interpret Translational compiles all gene variants within a dataset and enables this list to be quickly narrowed down through an interactive series of filters. This Interactive Filter Cascade can be adapted to reflect selection criteria of interest and their importance to the research question at hand (Figure 1).
Figure 1. Rapid prioritization of variants. A list of gene variants relevant to an analyzed dataset can be drilled down to those most relevant to the research question by defining a series of filters that reflect the most important selection criteria.
Filters of the QCI Interpret Translational are based on information in the QIAGEN Knowledge Base, including manually curated primary literature on human mutations in patients with particular diseases or abnormal phenotypes. These filters offer a broad portfolio of selection criteria that go above and beyond identifying variants that impact symptoms, pathways, processes and genes implicated in drug response or disease progression.
Additional biologically relevant filters allow, for example, identification of diseases consistent with clinical features and deleterious variants in medical genomes, or use of single and bidirectional statistical burden tests to find genes or pathways with significantly more deleterious variants in one study group compared to another.
Users can access 5 different filters to triage variants with granular control (Figure 2):
Figure 2. Customizable dynamic variant filter. A list of gene variants relevant to an analyzed dataset can be drilled down to those most relevant to the research question by defining a series of filters that reflect the most important selection criteria.
Watch a video tutorial to learn how to use the Interactive Filter Cascade in QCI Interpret Translational here.
Did you know we offer complimentary trials of our software? No restricted features, no sample data – you get to try all the features of QCI Interpret Translational with your data and see how it works.
Whole-exome sequencing (WES) using next-generation sequencing (NGS) technology is a powerful tool for investigating variants linked to genetic disease. It provides a high-resolution, unbiased view across the entire exome to discover causative variants of inherited disorders. However, the vast amounts of data produced by WES require comprehensive data analysis tools that can efficiently translate the raw sequencing data into meaningful, interpretable results. To address these challenges, QIAGEN Digital Insights offers QCI Interpret Translational.
QCI Interpret Translational is a NGS variant assessment software solution that enables rapid, evidence-powered variant annotation, filtering, and triage for human exome, genome, and large cohort sequencing data.
Leveraging the QIAGEN Knowledge Base, the industry’s largest collection of biological and clinical findings, QCI Interpret Translational improves research efficiency and accuracy by automating manual curation processes, dynamically and transparently assessing variants according to society guidelines with full user-control, and optimizing resource allocation, allowing users to focus on what matters most: transforming genomic data into publishable insights.
Learn more about QCI Interpret Translational here.
