According to techcrunch, in the field of biotechnology and pharmaceutical research, the demand for genome data continues to rise, but the cost is still a factor - even the whole genome sequencing now costs only $1000** However, Ultima genomics claims to reduce this cost by another order of magnitude to $100 , which may even further accelerate the economy.
Ultima said that its sequencing machine and software platform UG 100 can complete the complete sequencing of the human genome in about 20 hours, with the accuracy equivalent to the existing options, but the cost per "gigabase" is much lower.
There are three areas of progress that Ultima claims. First, the micromechanics ("dense electrostatic landing point array") are etched on a 200mm silicon wafer, rather than allowing the reagent to move along the fluid channel that must be flushed after the event to prepare for the next step. This well-known process uses cheap, off the shelf inventory and can be mass produced.
But more importantly, it enables the reagent to be simply deposited in the center of the silicon wafer. The silicon wafer rotates and is evenly distributed on the whole surface by centrifugal force. This is effective, mechanically simple, and allows "continuous reading of the resulting sequence during wafer rotation, similar to reading of an optical disc".
The second development is more mysterious. It is related to the process of preparing and directly reading DNA - instead of replacing bases with more machine-readable bases, or relying on dangerous particle images, it is a clever combination of the two. It is less destructive to the original chain, but it does not need the error prone measurement like single photon counting.
The third development involves machine learning to accelerate the process of converting optical data (CD scan signals) into usable data. A deep convolutional neural network trained on multiple genomes and segments adjusts according to the genome samples being sequenced, and then starts to work, verifying and assembling all the small data segments into the whole genome. This process speeds up and eliminates errors.
There is considerable room for improvement in this process, mainly in the size and density of the wafer and its surface, so as to improve the output. This may reduce the price, but for now, a 90% reduction in the price is enough to enter the market.
Gilad almogy, founder and CEO, said that the company is currently working with early visiting partners to launch some early proof of concept studies to demonstrate the ability of sequencing technology. Among them, the first research in cooperation with Broad Institute, Whitehead Institute, Baylor Medical College, etc. will be proposed soon, or can be used as a preprint at present.
A broader commercial deployment is expected in 2023 (the final pricing has not yet been determined, but may reflect the advantages of this approach over other approaches). When asked which areas of the biotechnology and medical industries would benefit the most from this new capability, almogy said: "we believe that genomics will become the first-line diagnostic method for various diseases." He pointed out that it is a supplement to many existing technologies and can only improve their understanding.
However, the far lower cost may lead to the population research of genomics, and improve our general understanding of the systematic differences of genomes in different populations and different periods. "We are already talking to partners who are interested in doing more genomes, and we are also doing RNA expression and proteomics on a population scale," almogy said. This is also key to epigenetic studies that focus on methylation and other changes in our DNA as we age.
"Deep Oncology", or using genetic analysis to describe and fight cancer, may be one of the earliest clinical applications -- in fact, isabl is far ahead of him on this issue. The company's rapid turnaround of whole genome tumor sequencing can become faster. Similarly, single cell sequencing (such as a blood cell or neuron) can be helpful in clinical and research environments, but "the cost of sequencing also makes it impossible for us to routinely use single cell sequencing for immunoassay and other applications," almogy said. Substantial cost reductions could change the equation.