Ultima: Only $100 for whole-genome sequencing

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Ultima: Only $100 for whole-genome sequencing

Ultima: Only $100 for whole-genome sequencing.

Ultima says its sequencing machine and software platform can do whole-genome sequencing for only $100.

Demand for genomic data in biotech and pharmaceutical research continues to rise, but cost remains a factor — even whole genome sequencing, which now costs as little as $1,000, is reported by TechCrunch.

However, Ultima Genomics claims to reduce this cost by another order of magnitude to $100 , and it may accelerate this economy even further.

Ultima: Only $100 for whole-genome sequencing

Ultima says its sequencing machine and software platform, the UG 100, can sequence a complete human genome in about 20 hours, with accuracy comparable to existing options, but at a much lower cost per “gigabase.”

There are three aspects to Ultima’s claimed progress.

First, the micromachines (“dense array of electrostatic landing sites”) are etched onto a 200-mm silicon wafer, rather than allowing reagents to travel down fluidic channels that must be rinsed afterwards to prepare for the next step.

This well-known process uses inexpensive, off-the-shelf stocks and can be mass-produced.

But more importantly, it enables reagents to simply be deposited in the center of a silicon wafer, which spins, using centrifugal force to distribute it evenly across the surface.

This is efficient, mechanically simple, and allows “the resulting sequence to be read continuously during the rotation of the wafer, similar to reading an optical disc”.

The second development is more subtle and has to do with the process of preparing and directly reading DNA — not replacing bases with more machine-readable bases, nor relying on dangerous particle-scale images, but combining both combined.

It’s less disruptive to the original chain, but also doesn’t require the error-prone measurements of single-photon counting.

The third advance involves machine learning to speed up the process of turning optical data (CD-style scan signals) into usable data.

A deep convolutional neural network trained on multiple genomes and fragments adjusts to the genomic sample being sequenced, then goes to work, validating and assembling all the tiny fragments of data into the entire genome. This process speeds up and eliminates errors.

Ultima: Only $100 for whole-genome sequencing

There is considerable room for improvement in this process, mainly in the size and density of the wafer and its surface, thereby increasing yield.

That might bring the price down, but for now, a 90% price cut is enough to get into the market.

Founder and CEO Gilad Almogy said the company is currently working with early access partners to launch some early proof-of-concept studies to demonstrate the capabilities of the sequencing technology.

Of these, the first of these, in collaboration with the Broad Institute, Whitehead Institute, Baylor College of Medicine, and others, will be presented soon or is currently available as a preprint.

Wider commercial deployment is expected in 2023 (final pricing has yet to be determined, but will likely reflect the advantages this approach offers over others).

When Almogy was asked which areas of the biotech and medical industries would benefit the most from this new capability, he said: “We believe that genomics will be the first line of diagnostics for a variety of diseases.” He noted that it is an important tool for many Supplements to the prior art, can only improve their understanding.

However, the much lower cost may lead to population studies of genomics, improving our general understanding of systematic differences in genomes across populations and over time.

“We’re already talking to partners who are interested in doing more genomics, but also doing population-scale RNA expression and proteomics,” Almogy said. It’s also key to epigenetic studies, which look at methylation and other changes in our DNA as we age.

“Deep oncology,” or the use of genetic analysis to characterize and fight cancer, may have been one of the earliest clinical applications — in fact, Isabl was far ahead of him on the subject.

The company’s fast-turnaround whole-genome tumor sequencing could get even faster. Likewise, single-cell sequencing (such as a blood cell or neuron) can be helpful in clinical and research settings, but “the cost of sequencing also prevents us from routinely using single-cell sequencing for applications such as immunoassays,” Almogy said. Slashing costs could change that equation.

Ultima: Only $100 for whole-genome sequencing

(source:internet, reference only)

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