Illumina Introduces the NovaSeq Series—a New Architecture Designed to Usher in the $100 Genome sequence

Illumina the global leader in next-generation sequencing technology, today introduced the NovaSeqTM Series, a new and scalable sequencing architecture expected one day to enable a $100 genome. Unveiled at the J.P. Morgan Healthcare Conference, this platform redefines high throughput sequencing with unrivaled throughput, ease of use, low per sample costs, and unmatched flexibility.

NovaSeq is the most powerful sequencer Illumina has ever launched and will open new horizons for more highly powered experiments at the depth required to discover rare genetic variants. It was designed from the ground up to allow a broad set of researchers to access next-generation sequencing technology and more easily conduct large-scale genomics projects with greater sample volumes, or more breadth and depth in the genome. In addition to a single instrument capable of sequencing from three to 48 human whole genomes per run, the NovaSeq Systems will open up new markets by making routine a wide range of applications from ultra-deep sequencing of matched tumor-normal pairs, to large-scale variant discovery studies associated with complex diseases, and low-pass sequencing of seed banks to select for specific traits.

George Church tracks the prices offered for genome services

George Church has created and is on the board of many genomics and biotech companies. He believes genome sequencing will rapidly hit $10 per genome. He clearly has the vantage point to have a good idea what is coming and to understand in detail what is possible in the near term.

“We are excited to be among the first to incorporate Illumina’s new NovaSeq System into the HLI sequencing center to complement our existing HiSeq X® Systems,” said J. Craig Venter, PhD, Co-founder and Executive Chairman of Human Longevity Inc. “Faster, inexpensive and innovative sequencing technology is a key component driving breakthroughs in precision medicine. This technology is also enabling HLI to expand the HLI database, the world’s most comprehensive database of genomic, phenotypic, and clinical data.”

“NovaSeq is a key development for clinical research,” said Richard Gibbs, Founder of the Baylor College of Medicine Human Genome Sequencing Center. “We are looking forward to generating tens of thousands of human whole genomes as we begin genome translation in earnest.”

“The Regeneron Genetics Center has sequenced more than 150,000 exomes in the last few years and we anticipate that moving to the NovaSeq platform will further increase our efficiency and output,” said Aris Baras, MD, Head, Regeneron Genetics Center. “We believe that genetic insight is critical to informing and advancing new treatments and are committed to expediting these advances for patients.”

“The introduction of NovaSeq marks one of the most important inflection points of innovation in Illumina’s history. In the same way that HiSeq X enabled the $1,000 genome with the HiSeq® architecture first announced in 2010, we believe that future systems derived from the NovaSeq architecture we are launching today one day will enable the $100 genome and propel discoveries that will enable a deeper understanding and better treatments for complex disease,” said Francis deSouza, President and CEO of Illumina. “The NovaSeq Systems enable the study of genetic links between health and disease at an unprecedented scale by making it possible to sequence more samples at greater depth and take on projects that would otherwise be cost-prohibitive. By accelerating the trajectory of genomics with these systems, Illumina is making it possible to envision a future in which all people can benefit from precision medicine.”

The NovaSeq Series includes the NovaSeq 5000 and 6000 Systems. These instruments offer ease of use features similar to those found in Illumina’s desktop sequencing portfolio, including automated onboard cluster generation, cartridge-based reagents, and streamlined workflows. With scalable throughput, users will have the flexibility to perform sequencing applications requiring different levels of output by simultaneously running one or two flow cells from up to four different flow cell types.

The NovaSeq 5000 and 6000 Systems are priced at $850,000 and $985,000 respectively. Compared with other Illumina sequencing systems, both have lower per sample consumable costs for most sequencing applications. They provide laboratories that cannot afford the capital cost of a HiSeq X Five or HiSeq X Ten System with a roadmap to completing human whole-genome sequencing projects at a cost of $1,000 per genome.

The NovaSeq 6000 will begin shipping in March 2017 and NovaSeq 5000 will begin shipping mid-2017.

What’s new about NovaSeq?

There are over 70 innovations that power NovaSeq to deliver new throughput and per-sample price points, while delivering data quality that is every bit as good as HiSeq, if not better. Some major innovations include a higher density flow cell format to pack many more genomes into a run. Another was a completely redesigned, custom made optical system to deliver a 4x increase in scan speed. Our core chemistries also went through some changes with reengineered dye sets and a new surface chemistry that increases the signal to noise ratio. These chemistry changes result in faster run times and an improvement to data quality. Finally, with the huge increases in data throughput, we had to re-code our primary analysis software to keep pace with the system.

What’s this about a $100 genome?

The HiSeq architecture, now in its eighth year, moved the industry from the $10,000 genome to the $1,000 genome. We believe that we can do it again with NovaSeq and that future systems derived from the NovaSeq architecture will usher in the $100 genome.

George Church’s view on Controlled enhancement

Those interested in enhancement are gung-ho about experimenting on themselves. There are athletes who take stem cell injections to get over injury faster; Silicon Valley types who use nootropics and other “smart drugs” not approved by the Food and Drug Administration to potentially increase their brain function; and people who try things like transcranial direct current stimulation, which uses low electrical currents applied to the head to stimulate neuron function.

About ten million people worldwide use steroids. Most of them are not competing in pro sports and do it for appearance or just the desire for greater strength and performace. There are millions that inject poison (Botox) into their face to smooth wrinkles.

When it comes to people using CRISPR to augment themselves or their children, “some people say ‘I can’t imagine it happening’ And George Church says, ‘You have to imagine it happening.’”

Church and some others who work with CRISPR believe that it’s already safe enough for additional research in humans, but, in the only known test of the technology on human embryos, CRISPR was largely ineffective in editing the desired genes. A breakthrough announced earlier this week enhances CRISPR’s accuracy and may be key to future human studies. As those eventual studies are conducted and as the technology becomes more consistent, Church believes somatic gene therapies, which target adult body cells (and could in theory be used by adults to alter themselves) will inevitably come next.

“Enhancement will creep in the door,” Church said. “The point is that [human enhancements] will come after very serious diseases and they will be spread by somatic gene therapies.”

Metformin is an antidiabetic drug which might have life extension properties and is now available without prescription in the Canary Islands

Kern Pharma’s in the Canary Islands is apparently offering Metformin without prescription. There are doctors and researchers who have chosen to personally get into Metformin and other antiaging medications.

The most common adverse effect of metformin is gastrointestinal irritation, including diarrhea, cramps, nausea, vomiting, and increased flatulence; metformin is more commonly associated with gastrointestinal side effects than most other antidiabetic drugs. The most serious potential side effect of metformin use is lactic acidosis; this complication is very rare, and the vast majority of these cases seem to be related to comorbid conditions, such as impaired liver or kidney function, rather than to the metformin itself.

Metformin has also been reported to decrease the blood levels of thyroid-stimulating hormone in people with hypothyroidism, The clinical significance of this is still unknown.

Millions are ordering Viagra and Cialis from overseas Pharmacies for enhanced sexual performance or overcome erectile dysfunction.

Researchers will begin testing Metformin, a medication used to treat diabetes, as an anti-aging drug in a clinical trial next year.

When it’s used for treatment for type 2 diabetes, the drug reduces the amount of glucose produced in the liver, but researchers believe that it may also have the ability to slow down the aging process in individual cells by increasing oxygen released into each cell.

Reducing the biological effects of aging would mean the possibility of increasing lifespans, staving off aging-related diseases like Parkinson’s and Alzheimer’s and perhaps allowing humans to live into their 110s or 120s, the research suggests.

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