Simplify and speed up exome sequencing

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-facts/

Useful resources to support your research

We’ve got you covered
Whole exome sequencing is a promising tool for rare variant detection. However, uneven sequence coverage can limit the power of this technique. In this infographic, see how QIAseq Human Exome ensures uniform sequence coverage to deliver robust variant detection.
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An end to the rare disease diagnosis labyrinth
For individuals with rare diseases, finding an accurate diagnosis can take years – even decades. However, recent advances in exome sequencing technology are helping patients get a diagnosis in record time. Read on to learn how.
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Discover our easy solution for detecting pathogenic variants
In this interactive brochure, discover how the QIAseq Human Exome Kits provide superior detection of disease-causing variants with less sequencing effort. Plus, view the full one-day, automation-compatible and scalable sample to sequencing workflow.
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Accelerate your exome insights

QIAseq Human Exome Kit: One-day, automatable and scalable exome sequencing

Maximize sample throughput while maintaining highly sensitive variant detection
Reduce sequencing cost per sample
Ensure deep coverage of challenging regions
Achieve excellent coverage uniformity for confident variant calls
Experience a single-day, automation-compatible and scalable workflow

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Explore the features of the QIAseq Human Exome Kit

Uncompromised performance

The American College of Medical Genetics (ACMG®) recommends reporting incidental findings from clinical genome and exome sequencing if variants are identified in exons of 59 specific genes. More than 99% of all coding bases of the ACMG 59 genes are covered at least 20x in 100x using the QIAseq Human Exome Kit, enabling reliable detection of variants in clinically, highly relevant genes.

Reduce turnaround times by up to 50%

The QIAseq Human Exome workflow is up to 2 days faster than other workflows. Flexible hybridization time results in an adaptable workflow, enabling sample to sequencing in a single day.

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

Leveraging the QIAGEN Knowledge Base, the industry’s largest collection of biological and clinical findings, QCI Interpret Translational improves research efficiency and accuracy. QCI Interpret Translational automates manual interpretation processes, dynamically and transparently assessing variants according to society guidelines with full user-control. It also optimizes resource allocation, allowing users to focus on what matters most – transforming genomic data into publishable insights.

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Rapid, evidence-powered variant assessment
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QCI Interpret Translational

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.
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.
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.
DNAnexus partnership
Secure and straightforward

Fully integrated and HIPAA-compliant cloud solution for data analysis and clinical interpretation of genomic tests.

Watch the webinars

The future of rare disease research
Explore 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.
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The importance of coverage uniformity in exome sequencing
Learn 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.
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Power up your variant knowledge using HGMD Professional
Discover practical tips for using the Human Gene Mutation Database (HGMD) Professional, the largest expert-curated resource for finding disease-causing mutations.
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