Reinventing targeted sequencing for pan-biomarker analysis: integrated DNA and RNA library construction using one workflow in one day

Raed Samara, Ph.D., Associate Director, Global Product Management, Genomics, QIAGEN

Cancer is a highly complex disease, and understanding the various alterations that together determine mechanisms of disease onset, progression, recurrence and response to treatment is not trivial. Currently, multimodal approaches are used to explore biomarker status using DNA variant profiling and RNA fusion information. Though the information derived enables a better understanding of the various mechanisms in play, having to perform separate workflows increases the overall cost of the study due to the number of instruments, reagents, consumables and resources needed. Furthermore, samples, especially those derived from tissues, are often of limited quantity and quality. Therefore, streamlined workflows optimized with low sample-input requirements are preferred to ensure the retention of samples for further downstream studies.

At this talk, we will present an innovative approach to biomarker analysis, enabling a Sample to Insight workflow that includes simultaneous extraction and NGS-based interrogation of DNA and RNA from a single sample in just one day. This approach not only reduces overall cost, hands-on and turn-around times from sample to sequencing for combined DNA and RNA profiling but, more importantly, provides critical DNA and RNA information from a single sample, generating a comprehensive molecular snapshot of the sample. Furthermore, this workflow is coupled with a data analysis solution from FASTQ to variant interpretation that facilitates a better understanding of the biological significance of this combined molecular signature, especially as it relates to the disease.

Visit us at ASHG 2019, booth #1119

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