In the realm of modern biology, unlocking the complexities of genomes has been significantly propelled by next-generation sequencing (NGS) technologies. Among these, the sequencing-by-synthesis (SBS) chemistry, in tandem with the esteemed DRAGEN Bio-IT platform, stands out for its unparalleled accuracy in delivering whole genome sequencing (WGS) data. However, the quest for understanding the entirety of genomic landscapes demands solutions that can bridge the gaps in hard-to-map genes and offer precise resolution in complex gene regions.
Recent strides in DRAGEN analysis have admirably filled these voids, yet a subset of genes still necessitate longer read lengths for precise targeting and localization. Regrettably, existing long-read sequencing solutions have often fallen short due to demanding DNA requirements, intricate workflows, and inconsistent results, thus impeding their widespread adoption and utility.
Enter Illumina Complete Long Read—a solution designed to simplify and elevate long-read sequencing within genomic laboratories. Representing the pinnacle of long-read technology, the inaugural product, Illumina Complete Long Prep, Human, sets a new standard in high-performance WGS assays.
This innovative approach seamlessly integrates into standard NGS workflows, harnessing the power of the NovaSeq 6000 System and NovaSeq X-Series to generate sequential long-read sequences. The efficiency of the library preparation protocol is astounding, completing the process in just a single day. Furthermore, its scalability is unmatched, catering to the demands of high-throughput studies with ease.
Gone are the days of arduous DNA requirements with Illumina Complete Long Read, a mere 50 ng of DNA is all that’s needed, obviating the necessity for specialized extraction, shearing, or fragment length screening. Moreover, Illumina Complete Long-Reads provide an exhaustive and precise representation of genomic information at the single-molecule level, ensuring continuous long-read lengths without the need for new platforms.
Illumina Complete Long Read Prep on the NovaSeq Platform
In the ever-evolving landscape of genomic research, the quest for comprehensive insights necessitates cutting-edge solutions that can seamlessly integrate versatility, precision, and efficiency. Enter Illumina Complete Long Read Prep, Human—an exceptional offering designed to harness the full potential of the NovaSeq platform, enabling researchers to unlock both long and short read length data with unparalleled quality and consistency.
Compatible with the NovaSeq X Plus, NovaSeq X, and NovaSeq 6000 sequencing systems, this assay heralds a new era of flexibility, allowing users to obtain comprehensive genomic information on a single instrument. Notably, it demands a mere fraction—just 10%—of the DNA starting volume required by other long read length solutions, minimizing sample requirements while maximizing efficiency.
Remarkably resilient in the face of common inhibitors and contaminants, Illumina Complete Long Read Prep ensures robust performance across a spectrum of sample types, including DNA sourced from blood, saliva, or tissue. This adaptability underscores its suitability for diverse research applications, where sample quality may vary.
At the heart of this solution lies a synergy of proprietary library preparation analysis, SBS chemistry, and the formidable DRAGEN analysis platform. Through a meticulously orchestrated process, single-molecule DNA fragments undergo enzymatic labeling in a distinctive pattern, paving the way for subsequent amplification and sequencing.
A hallmark of this approach is its ability to navigate through repetitive or challenging-to-map regions, guided by precise boundary markers. Long read lengths boasting an impressive N50 range of 5-7 kb, providing researchers with invaluable insights into complex genomic landscapes.
Moreover, Illumina Complete Long Read Prep transcends conventional sequencing methods by seamlessly integrating long-read data with unlabeled whole genome sequencing (WGS) libraries. This integration culminates in contiguous long read lengths, offering a comprehensive and precise depiction of the original single-molecule fragments.
Advancing Precision in Whole Genome Sequencing: Illumina Complete Long Read Data
In the realm of whole genome sequencing (WGS), precision is paramount, as it underpins the accurate identification of variants crucial for understanding genetic landscapes. Illumina Complete Long Read data emerges as a game-changer, augmenting standard short-read WGS data to offer a more exhaustive and precise genomic map.
The capabilities of Illumina Complete Long Read data extend far beyond conventional sequencing methods. By leveraging its unique attributes, it excels in detecting variants residing within high-homology or duplicated regions, often considered elusive in complex genomic landscapes. Furthermore, it unravels the intricacies of structural variants, pseudogenes, and large insertions/deletions (indels), providing researchers with unparalleled insights into genomic architecture.
A distinguishing feature of Illumina Complete Long Read data lies in its proficiency in resolving fixed-phase variants, enabling the precise detection of haplotypes—a crucial aspect in understanding genetic inheritance and disease predisposition.
Comparative analyses against highly accurate human WGS data, generated through the meticulous combination of Illumina DNA PCR-Free Prep for library preparation and DRAGEN analysis, underscore the superiority of Illumina Complete Long Read data across variant types. Through rigorous evaluation using the PrecisionFDA Truth Challengev2 dataset, Illumina Complete Long Read data showcased an impressive F1 score of 99.87%. This metric, reflective of both precision and recall in WGS, underscores its unmatched accuracy in variant detection.
By harnessing the PrecisionFDA Truth Challengev2 dataset, researchers can ascertain the degree of homozygosity or duplication within specific genomic regions—an invaluable resource for unraveling genetic complexities.
Summary
Long-read sequencing offers invaluable insights into the most intricate genomic regions. Illumina Complete Long Read Prep, Human not only supports long-read sequencing but also seamlessly integrates short-read sequencing on the same instrument, offering genomics labs a comprehensive solution for whole genome sequencing (WGS).
This integrated approach boasts a streamlined workflow, leveraging proven Ingena SBS chemistry and robust DRAGEN analysis, ensuring exceptional scalability and accuracy across the entire genome. Users benefit from a unified workflow that delivers unparalleled results, setting a new standard in genomic research.
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