The power of discovery

Whole exome sequencing (WES) specifically targets protein-coding regions of the genome and offers an affordable and efficient approach to detecting rare genetic variants. This technology is particularly useful for hereditary cancer research as it facilitates the discovery of disease-associated biomarkers and elucidates genotype-phenotype relationships. However, WES can detect thousands of genetic variants per sample, making it increasingly difficult to identify the relevant, typically one or two genetic variations that are most likely to underlie a phenotype and symptoms. Software solutions such as QCI Interpret Translational simplify and accelerate the process of genome data analysis, as no manual curation is required and potential causal variants can be quickly identified within minutes.

Download this new application note from QIAGEN to learn more about a robust WES workflow for rapid annotation, filtering, and triage of variants using the QCI Interpret Translational software.

  • Learn how WES discovers new genes and variants
  • Learn how to solve high-throughput WES data analysis challenges
  • Discover the value of automated, evidence-based filtering and prioritization of variants when handling WES data for hereditary cancer research

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