Illumina Inc. (NASDAQ: ILMN), a world chief in DNA sequencing and array-based applied sciences, introduced at present that its first product based mostly on its novel Illumina Full Lengthy Learn expertise is now obtainable to order. The high-performance, long-read, human whole-genome sequencing (WGS) assay – Illumina Full Lengthy Learn Prep, Human – is appropriate with Illumina NovaSeq X Plus, NovaSeq X, and NovaSeq 6000 Sequencing Techniques. For the primary time ever, it provides customers entry to each long- and short-read information on the identical Illumina instrument. Illumina Full Lengthy Reads allows an easier workflow with drastically lowered DNA enter necessities in comparison with different long-read choices.
Picture Credit score: Illumina
“Illumina Full Lengthy Reads is extra handy than different long-read applied sciences. We will put together long-read libraries with low DNA enter and with out most of the required supplies and tools wanted for different applied sciences,”
Hyung Il Lee, head of NGS Division at Macrogen
Seeing extra of essentially the most difficult genetic areas
A small fraction of genic areas profit from longer learn lengths to allow improved decision and mapping. By enabling entry into these hard-to-map areas, Illumina’s long-read information supplies an extra device within the development of genetic illness testing. This permits the scientific group to advance analysis by assaying the total breadth of genomic variation at scale to higher facilitate discovery in areas of genetic illness analysis and pharmacogenomics.
Illumina Full Lengthy Learn Prep combines Illumina sequencing by synthesis (SBS) chemistry with DRAGEN secondary evaluation to ship WGS with excellent accuracy. The value of the Illumina Full Lengthy Learn Prep, Human sequencing assay is inclusive of short- and long-read library prep, sequencing, and cloud evaluation. The promotional value for purchasers is $1,350 USD per entire genome when utilizing NovaSeq X Plus and a 25B stream cell, which shall be commercially obtainable later this 12 months.
“Many long-read options have been stunted by excessive DNA enter necessities, complicated workflows with low throughput, and extremely variable outcomes on devoted long-read devices. Illumina Full Lengthy Reads overcomes these ache factors and related prices to make long-read sequencing accessible and streamlined for genomic labs.”
Alex Aravanis, chief expertise officer and head of analysis and product improvement at Illumina
Early buyer information reinforces accuracy and suppleness
On the Illumina Genomics Discussion board in September 2022, Aravanis offered preliminary Illumina Full Lengthy Learn efficiency information towards the benchmarking information units from the PrecisionFDA Reality Problem v2. Illumina Full Lengthy Reads with DRAGEN evaluation generated an F1 rating—a compound statistic of precision and recall—of 99.87%.
Final month on the Advances in Genome Biology and Expertise (AGBT) convention, early-access prospects shared information reinforcing Illumina Full Lengthy Reads’ excessive accuracy and versatile DNA enter, in addition to the capabilities that assist to scale back price and operational complexity.
Michael Quail, PhD, principal scientific supervisor, Sequencing R&D at Wellcome Sanger Institute, mentioned, “The library prep was easy, with versatile enter necessities. We’re impressed with the accuracy of the information, together with the learn lengths and part blocks that may be generated on Illumina sequencers.”
Illumina plans to make use of this expertise as a platform for long-read software improvement. Within the second half of 2023, Illumina will launch an enrichment assay, an much more inexpensive, larger throughput, focused answer targeted on areas identified to profit from extra perception with longer reads. Illumina will discover extra functions past WGS and non-human samples sooner or later.
To study extra, go to illumina.com/merchandise/by-brand/complete-long-reads-portfolio.html.
