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"NGS Variant Annotation, Filtering, and Triage Using QCI Interpret Translational Whole-Exome Sequencing Workflow"

Whole-exome sequencing (WES) is a cost-effective method for translational cancer research, as it enables the detection of rare gene variations and the discovery of new cancer biomarkers.

Despite the significant contributions of genome-wide association studies, linkage analysis, and candidate gene mutation screening approaches to understanding hereditary cancers, over 50 percent of hereditary cancer risk remains unexplained, implying the need for further investigation into rarer genetic susceptibility alleles. WES provides a comprehensive approach to uncovering missing heritability in hereditary cancers, helping to determine if the majority of missing heritability is due to rare genetic variants.

WES analysis poses challenges in variant interpretation, which may lead to missing important variants if not done properly. QIAGEN Digital Insights offers QCI Interpret Translational, a comprehensive tool that translates raw sequencing data into meaningful, interpretable results. This application note from Qiagen explains how this next-generation sequencing (NGS) variant assessment software solution enables rapid, evidence-powered variant annotation, filtering, and triage for human exome, genome, and large cohort sequencing data. By addressing the challenges of WES analysis, this tool empowers researchers to decipher which detected variants have functional significance and which are irrelevant to the phenotype in question.

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