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, allowing users to focus on what matters most: transforming genomic data into publishable insights.
Join Rockefeller University and Danbury Hospital as they present a unique case study of a treatment-naive patient with aggressive metastatic uLMS who has experienced long-term survival. Using whole-exome sequencing, five tumors were analyzed with QCI Interpret Translational to identify mechanisms of uLMS tumor growth and metastasis in this patient.
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.
Learn more about the QIAGEN Knowledge Base here.
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 adopted to reflect selection criteria of interest and their importance to the research question at hand.
QCI Interpret Translational offers a comprehensive workflow for efficient, evidence-powered variant assessment.
Variant Filter Builder
Access 4 different filters to triage variants with granular control:
QCI Interpret Translational performs all computations with total transparency and traceability and gives users full-control over filter criteria, parameters, and variant assessments.
This case study outlines a filtering strategy to identify true, rare, homozygous variants in claudin-low cell lines for functional follow-up in the lab. The video showcases an analysis workflow to search for putatively functional variants in claudin-low breast cancer cell lines by comparing them to luminal breast cancer cell lines using QCI Interpret Translational.
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.
Preview QCI Interpret Translational in an on-demand webinar from our experts.
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