Genomics, sequencing to report
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

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.
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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
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

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%.

woman looking at the hologram screen
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.

Discover more disease-causing mutations

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.