Helping you navigate the rare disease labyrinth
Although rare genetic disorders are individually uncommon, estimates suggest that several thousand distinct rare disorders exist. As a result, approximately 1 in 20 individuals are affected by a rare disease. Whole exome sequencing provides researchers insight into these disorders by shining a light on the roughly 20,000 protein-coding genes in the human genome.
To advance disease research, we have developed an optimized exome sequencing approach that leverages hybrid capture technology for highly sensitive variant calling of targets from >500 genes. Access the previously inaccessible with ease using our QIAseq Human Exome solution. This approach seamlessly integrates with QIAGEN CLC Genomics Workbench for rapid variant calling and QCI Interpret Translational for accurate variant interpretation and disease-specific insights – freeing you up from extensive literature searches and analysis. Plus, this approach saves 50% on sequencing costs per sample and reduces overall turnaround time from sample to insights.
Nguengang Wakap, S. et al. (2020) Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur. J. Hum. Genet. 28, 165–173.
Wise A. L., et al. Genomic medicine for undiagnosed diseases. (2019) Lancet. 394, 533-540.
Global Genes Rare Facts https://globalgenes.org/rare-disease-facts/
Latest insights, events and more
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Be a part – Give every rare disease a voiceJoin us on February 23 for the Virtual Rare Disease Summit featuring expert talks, networking sessions and fun activities. Be a part of the latest trends and breakthroughs that help advance rare disease insights. Don't miss this opportunity. -
Go from sample to disease insight in record timeRead this white paper to streamline whole-exome sequencing with a robust, flexible and cost-effective workflow. See how we compared performance metrics to benchmark the new QIAseq Human Exome Kit for gDNA and cfDNA libraries against competitor capture solutions. -
Overcome GC biasDon’t let uneven coverage delay actionable insights! Check out our exome sequencing infographic on a cost-effective QIAseq Human Exome solution that overcomes sequencing challenges and gives you uniform exome coverage. -
An end to the rare disease diagnosis labyrinthIndividuals with rare diseases often find themselves forced into a medical labyrinth with no clear diagnosis insight. Finding an accurate diagnosis can take years – even decades. However, recent advances in exome sequencing technology are helping patients get accurate and rapid diagnosis. -
Easy solution for detecting pathogenic variantsWant to maximize your exome insights while reducing sequencing costs by 50%? Download the interactive flyer to accelerate time to exome insights and improve scalability with a streamlined sample to sequencing workflow.
Overcome challenges in whole-exome sequencing
Accelerate your exome insights
Explore the features of the QIAseq Human Exome Kit
Single-day, scalable and automation-compatible workflow
The QIAseq Human Exome Kit, together with the QIAseq FX DNA Library Kit, can be used for generating sequencing-ready enriched human exome libraries from human gDNA in a single day.
Seamlessly analyze and interpret your exome data
Rapid, evidence-powered variant assessment – QCI Interpret Translational
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Enhanced productivity
Eliminate manual curation
Connected to the QIAGEN Knowledge Base, QCI Interpret Translational brings all the information needed for variant assessment together in one location.
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Increased efficiency
Accelerate variant filtering
Leveraging powerful algorithms and trusted content, QCI Interpret Translational applies proprietary filters to rapidly identify potential causal variants within minutes.
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Complete reproducibility
Retain full user-control
Unlike other software, QCI Interpret Translational computes assessments with full transparency, giving users control over parameters, policies and output.
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DNAnexus partnership
Secure and straightforward
Fully integrated and HIPAA-compliant cloud solution for data analysis and clinical interpretation of genomic tests.
Watch the webinars
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The future of rare disease researchExplore the past, present and future of whole exome sequencing in clinical research with Dr. Andrea Ferreira-Gonzalez, Professor of Pathology and Chair of Molecular Diagnostics Division, Virginia Commonwealth University Health System. -
The importance of coverage uniformity in exome sequencingLearn about the importance of coverage uniformity in variant calling, the reasons for uneven coverage and how capture technologies can overcome challenges to improve whole exome utility. -
Power up your variant knowledge using HGMD ProfessionalDiscover practical tips for using the Human Gene Mutation Database (HGMD) Professional, the largest expert-curated resource for finding disease-causing mutations.