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APPLICATION NOTE

The Power of Discovery

Harnessing insights into heritable mutations from whole-exome sequencing data

 


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Whole-exome sequencing (WES) specifically targets thousands of protein-coding regions of the genome, offering an affordable and efficient approach for detecting rare genetic variants and discovering disease biomarkers. To identify the relevant genetic variations contributing to a phenotype and symptoms, researchers employ software solutions, such as QCI Interpret Translational, to simplify and accelerate the genomics data analysis process by eliminating manual curation.

Download this application note from QIAGEN to learn about a robust WES workflow for rapid variant annotation, filtering, and triage.

  • 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