Whole-exome sequencing (WES) specifically targets protein-coding regions of the genome, offering an affordable and efficient approach for detecting rare genetic variants. This technology is especially useful for hereditary cancer research because it facilitates the discovery of biomarkers associated with disease and elucidates genotype-phenotype relationships. However, WES can detect thousands of genetic variants per sample, which makes it increasingly difficult to identify the relevant, typically one or two, genetic variations most likely to underlie a phenotype and symptoms. Software solutions, such as QCI Interpret Translational, simplify and accelerate the genomics data analysis process by eliminating the need for manual curation and quickly identifying potential causal variants within minutes.
Download this new application note from QIAGEN to learn about a robust WES workflow for rapid variant annotation, filtering, and triage using QCI Interpret Translational software.
- Explore how WES discovers novel genes and variants
- Learn how to overcome challenges in high-throughput WES data analysis
- Discover the value of automated, evidence-powered variant filtering and prioritization when handling WES data for hereditary cancer research