“Cost-Efficient Whole Genome-Sequencing Using Novel Mostly Natural Sequencing-By-Synthesis Chemistry and Open Fluidics Platform”, Gilad Almogy, Mark Pratt, Florian Oberstrass, Linda Lee, Dan Mazur, Nate Beckett, Omer Barad, Ilya Soifer, Eddie Perelman, Yoav Etzioni, Martin Sosa, April Jung, Tyson Clark, Gila Lithwick-Yanai, Sarah Pollock, Gil Hornung, Maya Levy, Matthew Coole, Tom Howd, Megan Shand, Yossi Farjoun, James Emery, Giles Hall, Samuel K. Lee, Takuto Sato, Ricky Magner, Sophie Low, Andrew Bernier, Bharathi Gandi, Jack Stohlman, Corey Nolet, Siobhan Donovan, Brendan Blumenstiel, Michelle Cipicchio, Sheila Dodge, Eric Banks, Niall Lennon, Stacey Gabriel, Doron Lipson2022-05-30 (genome sequencing; backlinks)⁠:

[media: 1, 2, 3; criticism: 1, 2] We [Ultima Genomics] introduce a massively parallel novel sequencing platform that combines an open flow cell design on a circular wafer with a large surface area and mostly natural nucleotides that allow optical end-point detection without reversible terminators.

This platform enables sequencing billions of reads with longer read length (~300bp) and fast runs times (<20hrs) with high base accuracy (Q30 > 85%), at a low cost of $1/Gb. We establish system performance by whole-genome sequencing of the Genome-In-A-Bottle reference samples HG001–7, demonstrating high accuracy for SNPs (99.6%) and Indels in homopolymers up to length 10 (96.4%) across the vast majority (>98%) of the defined high-confidence regions of these samples.

We demonstrate scalability of the whole-genome sequencing workflow by sequencing an additional 224 selected samples from the 1000 Genomes project achieving high concordance with reference data.

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