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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.
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
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.
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.
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.
Whole exome sequencing
Explore the features of the QIAseq Human Exome Kit
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.
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.
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.
Bioinformatics
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.
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.
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.
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.
Break speed and cost barriers with our hereditary workflow
Want to reduce costs and speed up identifying genetic variants associated
with inherited diseases? Watch this webinar as experts discuss how our cost-efficient
workflow advances the diagnosis and management of inherited diseases.
Targeting disease-linked mutations by using focused actionable exome sequencing
See how the newly designed QIAseq xHYB Actionable Exome Kit can easily offer focused actionable insights into pathogenic variants within the HGMD.
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.