DNA quality matters in whole genome sequencing (WGS). Long-read sequencing (LRS) in particular depends on extraction methods that preserve high molecular weight (HMW) DNA.
A growing scientific movement
The numbers tell a compelling story: in 2017, approximately 802 scientific publications featured long-read sequencing with error rates ranging between 10 to 15%. By 2025, this number is projected to be over 4000 with error rates now at 0.01-0.1%. Long-read sequencing can improve detection of several variant classes that challenge short-read methods, but sensitivity and specificity depend on the platform, variant class, analysis pipeline, and validation dataset. With a compound annual growth rate exceeding 20%, the long-read sequencing market represents one of the fastest-growing segments in genomic research.
Laboratories at the forefront of genetic analysis are already condensing the number of genetic tests offered from around 100 to only ~10 by using WGS and LRS4.
The critical DNA quality factor
Imagine spending years collecting and storing biological samples, only to discover they are unsuitable for the most advanced analytical techniques when you need them. This scenario is playing out in laboratories worldwide as researchers attempt to use inadequately preserved DNA samples for long-read sequencing.
The chemagic technology offers a solution specifically designed for automated HMW DNA extraction at scalable throughputs—the exact requirements for successful long-read sequencing applications. HMW DNA is crucial as excessive fragmentation reduces the read length, disrupts variant regions for precise resolution, limits haplotype phasing and reduces the detection of epigenetic marks. The chemagic technology, when compared with an alternative automated extraction platform, demonstrated a ~1-2-fold greater extraction efficiency of HMW DNA fragments (> 50 kb) alongside higher overall yields, showing differences in extraction methods can impact HMW DNA extraction efficiency7.
With regards to compatibility with downstream long-read sequencing platforms, the chemagic technology was employed in the largest long read sequencing population study done to date with Oxford Nanopore sequencing, providing the best combination of long read lengths and high data output (GB)5. Similarly, the chemagic technology has been used successfully with SMRT sequencing (PacBio), with over 1500 HiFi genomes sequenced and growing on a weekly basis as part of the “Genomic Answers for Kids” research program at the Children’s Mercy Hospital6. The chemagic automated nucleic acid purification system ensures that the DNA you extract today will be suitable for the analytical methods of tomorrow.
Real-world impact
The practical applications of this technology are already evident across multiple fields. In Iceland, researchers used chemagic technology-extracted DNA for long-read sequencing to analyze 3,622 individuals, providing unprecedented insights into structural variants linked to human diseases5. In the field of rare disease and developmental disorders, the chemagic technology has been supporting pediatric research for over a decade and combined with long read sequencing has resulted in a diagnostic yield of over 50%6. Cancer research has also benefited, with scientists using this approach to precisely characterize genomic duplications and complex insertion-deletion variants in cancer genetics—variants that would be difficult or impossible to identify with traditional sequencing methods8,9.
Preserving samples for future studies
Preserving long DNA fragments during extraction helps keep stored samples suitable for future long-read sequencing studies.
Preparing for the future
If your laboratory plans to use long-read sequencing, consider HMW DNA requirements when choosing an extraction method. The chemagic solution offers automated HMW DNA extraction at scalable throughputs.
For research use only. Not for use in diagnostic procedures.
References:
- Chaushevska, M., Alapont-Celaya, K., Schack, A. K., Krych, L., Garrido Navas, M. C., Krithara, A., & Madjarov, G. (2025). Get ready for short tandem repeats analysis using long reads-the challenges and the state of the art. Frontiers in Genetics, 16, 1610026. https://doi.org/10.3389/FGENE.2025.1610026/FULL
- Fauqueux, J., Meneboo, J. P., Caumes, R., Thomès, L., Yahya, E. A., Thuillier, C., Boudry, E., Villenet, C., Figeac, M., Ghoumid, J., & Smol, T. (2025). Combining long-read DNA and RNA sequencing to enhance molecular understanding of structural variations leading to copy gains. Computational and Structural Biotechnology Journal, 27, 1732–1740. https://doi.org/10.1016/J.CSBJ.2025.04.031
- Geysens, M., Huremagic, B., Souche, E., Breckpot, J., Devriendt, K., Peeters, H., van Buggenhout, G., van Esch, H., van den Bogaert, K., & Vermeesch, J. R. (2025). Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders. Genome Medicine, 17(1), 1. https://doi.org/10.1186/s13073-024-01419-z
- European Consortium Will Advance Long-Read Sequencing in Clinics https://www.technologynetworks.com/genomics/blog/european-consortium-will-advance-long-read-sequencing-in-clinics-398090
- Beyter, D., Ingimundardottir, H., Oddsson, A., Eggertsson, H. P., Bjornsson, E., Jonsson, H., Atlason, B. A., Kristmundsdottir, S., Mehringer, S., Hardarson, M. T., Gudjonsson, S. A., Magnusdottir, D. N., Jonasdottir, A., Jonasdottir, A., Kristjansson, R. P., Sverrisson, S. T., Holley, G., Palsson, G., Stefansson, O. A., … Stefansson, K. (2021). Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits. Nature Genetics 2021 53:6, 53(6), 779–786. https://doi.org/10.1038/s41588-021-00865-4
- On-Demand Webinar: Automated DNA isolation for long read sequencing – One isolation for multiple assays. https://www.revvity.com/de-en/content/unleashing-power-genomics-webinar-review
- Application Note: Comparison of automated nucleic acid purification systems on HMW DNA extraction efficiency. https://www.revvity.com/de-en/content/comparison-automated-nucleic-acid-purification-systems-hmw-dna-extraction-efficiency
- Watson, C. M., Crinnion, L. A., Hewitt, S., Bates, J., Robinson, R., Carr, I. M., Sheridan, E., Adlard, J., & Bonthron, D. T. (2019). Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications. Laboratory Investigation 2019 100:1, 100(1), 135–146. https://doi.org/10.1038/s41374-019-0283-0
- McDaniel, J. H., Patel, V., Olson, N. D., He, H.-J., He, Z., Cole, K. D., Gooden, A. A., Schmitt, A., Sikkink, K., Sedlazeck, F. J., Doddapaneni, H., Jhangiani, S. N., Muzny, D. M., Gingras, M.-C., Mehta, H., Behera, S., Paulin, L. F., Hastie, A. R., Yu, H.-C., … Zook, J. M. (2025). Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair. Scientific Data 2025 12:1, 12(1), 1–22. https://doi.org/10.1038/s41597-025-05438-2
