Next-Generation Sequencing

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 is 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 portfolio that leverages hybrid capture technology for highly sensitive variant calling of targets. This technology is appropriate for whole exome sequencing as well as for examining specific actionable exome variants profiled in the Human Gene Mutation Database HGMD. Access the previously inaccessible with ease using our QIAseq Human Exome solutions.

QIAseq Human Exome solutions seamlessly integrate 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.

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

Don’t miss pathogenic variants

New single-day, automation-compatible panels deliver high coverage of regions in over 10,000 HGMD-curated whole genes and protein coding sequences (CDS). Discover how you can eliminate bottlenecks, reduce overall turnaround time and gain actionable disease insights.

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Summit Highlights – give every rare disease a voice

Check out the Virtual Rare Disease Summit featuring expert talks, and discover the latest trends and breakthroughs that help advance rare disease insights

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Overcome GC bias

Don’t let uneven coverage delay actionable insights! Check out our infographic on QIAseq Human Exome solution that overcomes sequencing challenges and gives you uniform exome coverage.

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Go from sample to disease insight in record time

Read 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 hybrid capture solutions.

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Easy solution for detecting pathogenic variants

Want to maximize your exome insights while reducing sequencing costs by 50%? Download the interactive flyer to learn how to accelerate time to exome insights and improve scalability with a streamlined sample to sequencing workflow.

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Overcome challenges in whole exome sequencing

Dr. Peter Hahn discusses how long turnaround times, complex data analysis and interpretation, and issues maximizing sequencing capacity can complicate exome sequencing experiments. Hear how the QIAseq Human Exome solution addresses these issues to reduce exome sequencing costs by up to 50% and improves scalability with a single-day, automation-compatible workflow to speed up your time to insights.

COVID-19 impact on rare disease research

How has the pandemic affected the venerable populations? Take a moment to reflect upon how COVID-19 has impacted patients with rare diseases as well as researchers who study them.

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. At an average sequencing depth of 100x, >99% of all coding bases of the ACMG 59 genes are covered at least with 20x coverage 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.

The future of targeted panels

The QIAseq xHYB Human Hybrid Capture Panels provide curated content that targets variants of 10,000 genes from HGMD. Over 4200 genes are fully covered, some of which are in the most challenging genomic regions, such as those with high GC-content. With a single-day, automation-friendly workflow, you can go from sample to sequencing in no time, maximize your read budget and reduce sequencing costs up to 50%.

Actionable exome

The QIAseq xHYB Actionable Exome Panel targets all (100%) disease-causing and likely disease-causing variants listed at HGMD (>300,000 variants), including variants in regulatory regions and splice sites, as well as deep intronic variants. The panel design allows comprehensive targeting of variants in more than 10,000 genes, while keeping the target region size small.

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Carrier screening

The QIAseq xHYB Carrier Screening Panel is a hybrid-capture based solution for comprehensive carrier screening, including 448 genes. The panels adhere to the latest recommendations for screening autosomal recessive and X-linked conditions given by the American College of Medical Genetics and Genomics (ACMG) for an unbiased, ethnicity-neutral screening approach.

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Mitochondrial genome

The QIAseq xHYB Mitochondrial Panel provides a spike-in to cover the full mitochondrial genome and can be paired with exome or other panels.

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Bioinformatics

Trust HGMD Professional for the answers you need

When a family has a child with a rare undiagnosed condition or a couple is planning their next chapter, they want the assurance that their doctors are considering every peer-reviewed paper and all available evidence in their quest for an answer.

HGMD Professional remains the largest manually curated resource for finding pathogenic gene lesions responsible for disease-causing or disease-associated variants. Founded and maintained by the Institute of Medical Genetics at Cardiff University, the database attempts to collate all known (published) gene lesions responsible for human inherited disease, giving you the best possible chance of reaching a diagnosis.

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Discover more disease-causing mutations

368,587

detailed mutation reports

All data are based on published, peer-reviewed literature that has been manually curated and evaluated for accuracy.

45,000+

new mutation reports per year

Every quarter, HGMD Professional content and functionality is updated to ensure you remain informed of the latest findings.

11,500+

detailed summary reports

For certain mutations, HGMD Professional includes summaries of disease-associated/functional polymorphisms.

Break speed and cost barriers in genetic testing

Sample to Insight solution for inherited disorders

Text: QIAGEN’s new groundbreaking Sample to Insight solutions for inherited diseases combine human exome and human hybrid-capture panels, the fastest and cheapest secondary analysis in the market, and trusted variant interpretation and reporting software powered by augmented molecular intelligence.

QCI Secondary Analysis with LightSpeed

LightSpeed is a new module for QIAGEN CLC Genomics Workbench Premium that empowers laboratories to perform NGS secondary analysis with high accuracy at unprecedented runtimes.

LightSpeed processes FASTQ files to produce VCF files containing single nucleotide variants (SNV), insertion–deletion mutation (InDel) and structural variant (SV) calls. The module is deployable using local computers or Amazon Web Services (AWS®) cloud and performs quality and adapter trimming, read mapping, deduplication, local realignment, quality control and variant calling.

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QCI Interpret for Hereditary

QCI Interpret is NGS variant interpretation and reporting software powered by augmented molecular intelligence that helps labs not only make faster decisions—but the right decisions.

Connected to the exclusive QIAGEN Knowledge Base, the industry’s most comprehensive, manually curated resource updated weekly, QCI Interpret delivers variant-specific, scientific evidence in context of phenotype or diagnosis. Interactive filters prioritize variants and proprietary algorithms transparently compute ACMG/AMP variant classifications, enabling users to generate evidence-based reports with efficiency, confidence, and reproducibility.

Learn more

View the sample report

Simplify and speed up exome sequencing

Helping you navigate the rare disease labyrinth

Latest insights, events and more

Overcome challenges in whole exome sequencing

COVID-19 impact on rare disease research

Whole exome sequencing

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

Explore the features of the QIAseq Human Exome Kit

Uncompromised performance

Reduce turnaround times by up to 50%

Single-day, scalable and automation-compatible workflow

The future of targeted panels

Bioinformatics

Trust HGMD Professional for the answers you need

Discover more disease-causing mutations

368,587

detailed mutation reports

45,000+

new mutation reports per year

11,500+

detailed summary reports

Break speed and cost barriers in genetic testing

Sample to Insight solution for inherited disorders

Webinars

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