Peter Hahn, PhD, is the associate director of the R&D NGS Technology Development at QIAGEN.
Rare diseases have a low prevalence in the general population, and their etiology can be highly complex. Exome sequencing can be advantageous as a universal screening tool for them.
In this webinar, you can learn more about what to look for in an exome sequencing panel for rare disease identification, such as the QIAseq xHYB kit, including the following:
- high coverage uniformity for reliable variant calling
- efficacy even for genes with high GC content
- coverage of disease-related genes, including loci from the human genome mutation database
- flexible hybridization time
- availability of kits for ease of use
- rapid and standardized data analysis for variant classification and interpretation