QIAGEN

Peter René Hesse,

Harnessing the true potential of NGS in biological research requires fast, efficient solutions that reduce turnaround times and maximize sequencing capacity. “Missing an all-important variant can result in significant downstream consequences,” says Peter Hesse, Vice President Head of Genomics at QIAGEN. That’s why intelligent panel design and optimized chemistry are critical.

The genomics market is broadening from specialized research into the high-value sectors of clinical, industrial and commercial applications driven by scientific discoveries, improving regulatory and reimbursement trends and technological innovation. In particular, clinical adoption continues to increase, but we are still in the first innings, and there is room to grow.

QIAGEN is meeting the need for ever faster and more efficient solutions that maximize sequencing capacity through its portfolio strength on front-end sample processing and downstream bioinformatics and extensive application strength across all existing NGS platforms.

Finding The Variant That Matters

Targeted DNA sequencing has proved to be a powerful and precise method for identifying common and rare genetic variations. It relies on targeted DNA panels identifying mutations linked to certain diseases and disorders. This allows it to focus on specific regions of interest in the genome, enabling researchers to target specific genes, coding regions or even chromosomal segments. The process is quicker and more thorough than whole genome sequencing, but it also throws up challenges with regard to the workflow, results and analysis.

Recognizing the demand for speed, QIAGEN optimized its targeted DNA sequencing technology to streamline the path to variant detection. It improved its chemistry to halve the time researchers need for the so-called library preparation of DNA samples down to just six hours. It also eliminated multiple tricky bead purification steps that make existing workflows more complex. As a result, QIAGEN’s targeted sequencing workflows are less time-consuming, setting new industry standards in preparing samples to determine their nucleic acid sequences.

Another major challenge for researchers using targeted sequencing is that all DNA fragments look identical, making it extremely difficult to distinguish sequencing errors from unique DNA molecules. PCR duplicates, false positives and library bias can undermine the quality of targeted sequencing data, limiting the authoritative detection of low-frequency DNA variants. To avoid these errors, QIAGEN’s platform-agnostic targeted DNA sequencing panels use so-called unique molecular indices (UMIs) to tag each original molecule with its barcode.

Unraveling the Complexity of the Transcriptome

RNA sequencing is a powerful tool for making significant discoveries in transcriptomics, from identifying novel biomarkers or molecules that signal a condition of disease to studying differential gene expression. While DNA stores genetic information, RNA transcribes the genetic information in making the proteins that structure, operate and regulate the body. But this helpful tool also comes with a built-in problem.

While the crucial messenger RNA (mRNA) exists only briefly because protein is synthesized, ribosomal RNA (rRNA) is never translated into protein, becoming the predominant form of RNA in most cells. Its presence can waste valuable sequencing resources and compromise the detection of the much less abundant mRNA transcripts. To counter this problem, QIAGEN has developed an innovative rRNA removal technology that removes more than 95% of rRNA in 14 minutes to an hour, depending on the organism. This increases RNA sequencing sensitivity and saves resources and costs. Researchers often struggle with limited RNA amounts for sequencing. To help address this challenge, QIAGEN’s low-input RNA sequencing technology enables RNA sequencing insights from just 500 pg RNA.

Seamless Data Analysis to Make Sense of RNA Sequencing Results

RNA-seq data analysis is a recurring problem for many researchers. Many data analysis platforms are cumbersome and require researchers to build significant bioinformatics expertise. QIAGEN’s rRNA removal and RNA library preparation solutions include access to cloud-based, integrated data analysis. Researchers can seamlessly go from generating RNA-seq data to gaining gene expression insights.

From Sample to Insight: Leveraging the True Potential of NGS

To date, up to four million samples have been processed by QIAGEN’s growing range of NGS panels. While generating DNA and RNA sequencing data takes substantial effort, deciphering the secrets in the sequence is even more challenging. Researchers have to make sense of the sequencing data to uncover biological insights. Intuitive, integrated data analysis pipelines can help bridge the gap between NGS sequencing, the data it produces, and the actionable insights scientists want. QIAGEN’s bioinformatics portfolio stands shoulder-to-shoulder with its sample processing technology and intelligent panel design to leverage the full potential of NGS.