- Macrogen becomes the world’s first launching partner for Revio, the latest long read sequencing system unveiled on October 27. Revio is expected to increase throughput while lowering costs.
- Following up on short read sequencing systems, the third generation of sequencers has seen a rapid progress in technological development. The latest systems are expected to be applicable to the analysis of the mechanism of cancer and rare diseases, as well as for agricultural genomics. 
- As the first Asian company to introduce this revolutionary technology, Macrogen will be offering unique services that will contribute to the often difficult diagnosis and treatment of rare diseases. 

Macrogen, a biotechnology company specializing in precision medicine announced on October 28 that it would be participating as the first ever launching partner for the latest Long Read  Sequencing System developed by Pacific Biosciences of California, Inc., or PacBio. 

Earlier on the 26th, PacBio unveiled its latest Long Read Sequencing System, ‘Revio’, featuring shorter run times and a 15-fold increase in HiFi data compared to existing systems, along with the ability to sequence up to 1,300 human whole genomes per year. This revolutionary technology offers high hopes for dramatic advances in a wide range of areas, including cancer research, analyses of the mechanism for rare diseases, and agrigenomics.  

In addition to Macrogen, Broad Institute is also said to be one of the partners for the global launch of PacBio’s Revio. 

"We are learning that many diseases that had gone undiagnosed in the past can be explained by the existence of specific structural mutations. The next generation of sequencing technologies allows us to effectively analyze complex genomes - something that had not been possible before. This will completely change the field of genomic medicine as we know it," Chairman of Macrogen, Jeongsun Seo explained.  

The long read sequencing system that Macrogen is bringing in is the third generation technology that can read over tens of thousands of pairs in the genome. It is particularly hailed within the industry for its effectiveness in detecting structural mutations in the DNA that had not been possible with short read sequencers. The detection of structural mutations in the DNA is particularly important as it greatly affects the disease mechanism. 

Compared to the short-read method where the DNA is segmented into small pieces for analysis to be put back together in its original sequence, the long-read method makes it easier to identify the original location of the DNA. This has provided a watershed moment for sequencing the over three billion pairs in the human genome, and thus opening up the possibility of curing genetic diseases.  

Another advantage of the long read sequencers is that the difference in mRNA expression can be analyzed up to the isoform level of the gene, which offers a higher resolution than at the genome level which had been the norm to date. 

With a cutting-edge GPU that boasts a 20-fold increase in computing power compared to existing models, Revio has shortened the time it takes for analysis to one day, while increasing data processing throughput by 15-fold. AI computer that supports deep learning algorithms has also increased the accuracy of analysis.  

"Combined with significant advances in our compute, Revio will deliver shorter run times and a 15-fold increase in HiFi data. I’m excited to see what researchers can discover using the power of Revio," said Christian Henry, President and Chief Executive Officer of PacBio. 

"Revio will completely overhaul the world of human genome sequencing," commented Mark Van Oene, COO of PacBio at the annual conference of the American Society of Human Genetics, one of the largest events held in the field of genome research, held this year in Los Angeles from October 25 to 29. 

Once it adopts five units of the Revio sequencer next year, Macrogen plans to offer differentiated services to its clients at home and abroad, including a new type of whole human genome sequencing that would simultaneously detect genetic mutations and epigenetic mutations . In doing so, the company hopes to contribute to the prevention, prediction, diagnosis and tailored treatment of rare and difficult-to-cure diseases, ushering in an era where longevity is accompanied by good health. 

Meanwhile, with many forecasting that $100 genomes are just around the corner from becoming a reality, Macrogen is redoubling its efforts to transform itself into a global healthcare company that offers a genetic blueprint for just $100, with the goal of bringing better health to mankind. As can be seen in the case of the U.S.-d Illumina, a world-renowned manufacturer of genome sequencing systems that recently unveiled a product that brought down the cost of genome sequencing to as low as $200, a growing number of global corporations have been focusing on lowering costs of genome sequencing while increasing throughput, to make it more widely available to the public.