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.
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Whole exome sequencing
Explore the features of the QIAseq Human Exome Kit
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%.