Genomics, sequencing to report
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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 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/

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 reduces exome sequencing costs by up to 50% and improves scalability with a single-day, automation-compatible workflow to fast-forward your time to insights.
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
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.

QIAseq_Human_Exome
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.

QIAseq_Human_Exome
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.

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.

clinical insights