Watch our new how-to videos for the QIAxcel Advanced system
Given the current rapid pace of innovation in next-generation sequencing (NGS), it can be easy to forget the critical role preanalytics and quality control (QC) play in producing consistent and reliable data. After all, in 2017 alone we saw significant milestones achieved across the NGS landscape that pushed the cutting edge. We’ll get back to the QC perspective in a moment, but first, looking back, several breakthroughs from 2017 will likely have a particularly high impact moving forward.
The much-anticipated report in the journal Science on the de novo genome assembly of the mosquito vector of Zika virus, Aedes aegypti, highlighted the powerful application of a three-dimensional approach characterizing chromosome folding within the nucleus (1). This may set the stage in the future for powerful research and clinical applications freed from the requirement of a priori knowledge of a reference genome sequence.
Also in 2017, single-molecule sequencing took center stage with the introduction of the Canu informatics pipeline for long-read sequencing (2), which was subsequently used in the de novo assembly of a human genome using nanopore-derived sequencing reads (3). On the clinical NGS side, the U.S. Food and Drug Administration took the unprecedented step of granting accelerated approval for an immunotherapy cancer treatment for any solid tumors sharing a common biomarker signature, regardless of the tissue of origin.
Groundbreaking contributions such as these can only be achieved with stringent QC checkpoints throughout the experimental workflow. Complex multistep library preparation protocols reflect considerable investments of time and money. Fortunately, innovation in automating sample and NGS library QC has kept pace with core sequencing technology.
Consider the QIAxcel Advanced system for confirming the performance and efficiency at each step of the library preparation process. Designed for both DNA and RNA, QIAxcel Advanced automates library QC by checking whether the library meets QC criteria for concentration, molarity and size distribution. It detects contaminants and shows the presence of adapters and primerdimers. Any library can be analyzed, whether it’s for sequencing whole genomes, exomes, transcriptomes or for targeted panels.
We have a new series of short how-to videos for QIAxcel Advanced that introduce the system, as well as offer helpful tips and troubleshooting. See them here, and please share your thoughts. Your feedback is very important to us and that’s why we also encourage you to participate in a quick survey after viewing our videos.
It looks like 2018 will reveal further NGS showstoppers, and we look forward to sharing in the excitement yet to come, so stay tuned!
- 1) Dudchenko, O., Batra S.S., Omer A.D., et al. “De Novo Assembly of the Aedes Aegypti Genome Using Hi-C Yields Chromosome-Length Scaffolds”. Science 356.6333: 92–95. 2017.
- 2) Koren S, Walenz BP, Berlin K, et al. “Canu: scalable and accurate long-read assembly via adaptive k-mer weighting and repeat separation”. Genome Res 27(5):722-736. 2017.
- 3) Jain, M., Koren, S., Miga, K.H., et al. “Nanopore sequencing and assembly of a human genome with ultra-long reads.” Nature Biotechnology. January 29. Accessed 01 29, 2018. Link