How Does Illumina Make DNA Sequencing Better?
Last updated on July 26, 2022 by
DNA sequencing used to be an impossibly expensive endeavor. Not only that, it took months and years to produce a finished “draft” of a human genome sequence, which was made up of individual, representative versions of each human chromosome. Together, these reference sequences still only reflected about half of the whole human genome.
By the time the Human Genome Project (HGP) was completed, an astounding $2.7 billion went into the project. However, within a few years following the end of the HGP, considerable efforts were being made to lower the costs of genome sequencing.
So, how did sequencing become cheaper?
With the introduction of new technologies, consumables, and sequencers. It’s also thanks to the perseverance of scientists and researchers—especially those at Illumina.
Illumina, Inc. has been behind many of the innovative transformations that have made genome sequencing more affordable and accessible. As a matter of fact, Illumina’s HiSeq X Ten System was the first to pioneer whole-genome sequencing for under $1,000 and revolutionized genome sequencing for both startup and large companies in the biotech space.
Not only does Illumina focus on keeping up with and expanding the technologies needed, but it also focuses on ensuring STEM education is easily accessible to all students. Illumina believes it is essential to empower young scientists to pursue a life in healthcare to meet the needs of a changing world.
Illumina was founded in 1998 by five colleagues; Mark Chee, Anthony Czarnik, David Walt, John Stuelpnagel, and Larry Bock. Stuelpnagel and Bock uncovered BeadArray technology (now known as Microarray) and negotiated for exclusive licensing.
The following year, they acquired Spyder Technologies. They offered the first genotyping by the year 2000, and the rest came organically.
The headquarters is located in San Diego, California and the current President and CEO is Francis deSouza. Illumina is listed as “ILMN” on the NASDAQ.
Its mission is a simple one: “To improve human health by unlocking the power of the genome.”
In this article, we will teach you about Illumina’s services, support systems, and products that can support your own lab’s endeavors with DNA sequencing and genotyping.
Illumina Services and Support
Support services are essential to anyone buying or leasing lab equipment and technology. Without it, people will stumble through the functions and may never unleash the instrument’s or software’s full potential. Even worse, if something needs minor maintenance or repairs, it could be challenging to find someone to assist. Illumina offers extensive support and services online through documentation and email to alleviate these stresses.
- The instrument support is one of the most specialized we have seen. You look up the specific instrument you have, and you will find documentation, product software, and any necessary product information. Product information includes warranties, technical bulletins about upgrades, and instructional information.
- Library prep kits are designed to streamline your processes, permitting efficient profiling. The support for these kits includes documentation, product files (such as sample sheets), and product information. The documentation may offer test instructions, app guides, and pipeline software guidelines. Product information often has specifications and technical bulletins.
- Microarray services are the answer to any academic, life sciences, or pharmaceutical group that wants to collaborate with an expert geneticist. It offers the same benefits that microarray instrument owners have while reducing costs and providing results promptly.
- Illumina’s software support is far-reaching and cogent, offering solutions and technical reinforcements in custom designs, run planning, lab management, data analysis, and interpretation and reporting.
The support and services don’t stop there. Illumina offers various online tools that can help you generate reports or make informed decisions on what your needs are. If you need a module for your instrument Local Run Management configuration, that will be in the online tools. Need to download BeadChip decode map files? You will find a DMAP Client to get the necessary software. Calculators and selectors round out the options to comprise everything you might need for your project.
There is one last service to discuss, and it’s one of the most important: training.
Training videos and webinars are available in the training section. There is a sidebar of filters so you can narrow down your search for information. Want to understand your new instrument better? There is a video or webinar for that. Want to comprehend the library kit better? You will likely find your answers in the training section.
Illumina ensures you can work on your project and get the answers needed in a timely fashion. After all, we see a growing number of genotyping companies now offering results directly to their customers, and the importance of accurate data is at an all-time high.
Illumina started with innovative technology and continues that legacy through its product line. It offers the perfect solution for assays, cancer research, studying genetics and rare diseases, and understanding reproductive health.
As research and experiments in biotechnology consistently improve and grow, using the right, forward-thinking technology is paramount. Let’s take a moment and explore how Illumina does just that.
NGS (Next-Generation Sequencing)
Where Illumina truly shines is in its next-generation sequencing, technologies that went from labs to clinical use. Next-generation sequencing is becoming increasingly popular, and Illumina is the top company to work with. In fact, it’s estimated that by 2025, 60 million or more people will have their genes sequenced, and Illumina will undoubtedly be a driving force behind the growing number.
It is a leader in biotechnology innovations for NGS and currently has a monopoly on this market. Illumina offers comprehensive solutions that include library preparation, sequencing systems, and data analysis.
The library prep kits will streamline your workflow, allowing you to do more with the time you have. Don’t worry about how small or large of a lab you have, the kits are customizable for your space. Sequencer platforms are offered in benchtop machines, and you will find them tailored to your needs. Illumina’s library prep protocols and solutions currently accommodate DNA and RNA sequencing applications.
Microarray scanners were where the company began and these are still a part of its product lineup. A simple scanner will cover genotyping, cytogenomics, and methylation array. The scanner and sequencing accommodate everything from cytogenomics to metagenomics to analysis. However, it won’t offer a genotyping array.
Cancer research is one of the top areas of research conducted in this country and abroad. To cure cancer, oncology needs to be one step ahead. That is where Illumina comes in. For instance, the AmpliSeq for Childhood Cancer Panel targets over 200 known genes (including CNVs, SNVs, indels, gene fusions, and hotspots) to better understand leukemia, sarcomas, and brain tumors in children and young adults.
The AmpliSeq for Cancer Hotspot Panel v2 is for researching somatic mutations in hotspot areas of about 50 known genes with a predisposition to cancer. This panel is highly sensitive to variants in several types of cancer, including reproductive cancers, lung cancers, and melanomas.
Illumina has numerous products to help combat infertility and other reproductive health issues.
Infertility can be due to genetic mutations or a result of previous cancers. HumanCytoSNP-12 v2.1 BeadChip Kit is the perfect solution to understanding the analysis of genetic variations and looking for predisposition to specific types of cancers and chromosomal abnormalities.
Another concern for men and women who want to have children is the potential for congenital disorders. Infinium CytoSNP-850K BeadChip is the most common product for cytogenetic studies. Additionally, it is the perfect tool to study low-level mosaicism for improving implantation success. This allows pregnant women to be informed about any possible congenital anomalies.
Genetic and Rare Disease
Genetic and rare diseases are a constant battle in biotech. Gene mutations are more frequent as it is a part of evolution and are passed through reproduction. To combat the development of rare diseases and abnormalities, Illumina has specific machines for panels and preparations for your studies, providing reliable genomic data.
For example, the AmpliSeq for Illumina Custom DNA Panel provides the best workflow and is compatible with DesignStudio for customizable content. Library preparation is about 5.5 hours with 1.5 hours of hands-on work.
Or, you might consider the AmpliSeq for Illumina On-Demand when looking for panels of pre-tested genomes. It’s perfect for inherited research, such as hearing loss or inherited cancers.
Microbiologists will appreciate Illumina’s product line that helps them investigate genetic mutations and sequence viral and bacterial genomes, along with environmental samples. Illumina DNA PCR-Free Library Prep is the most flexible for a variety of whole-genome sequencing. What is most impressive is the customizable workflow is cut to 1.5 hours. It also has the capability to accept variations of the sample type, application, and DNA input.
If you are looking for an easier way to target RNA exomes, the Illumina RNA Prep with Enrichment is what you need. It is compatible with the Illumina Exome Panel and Respiratory Virus Oligo Panel. You will be able to prepare and enrich the libraries in about 9 hours, with hands-on time totaling approximately 2.5 hours.
Illumina’s Fight Against COVID-19
As of this publication, there are approximately 30 million cases of COVID-19 in the United States. More poignantly, the peak of the COVID-19 pandemic has seen over a half million deaths related to the pandemic in the US alone.
Illumina has been a major supporter of scientists worldwide in the battle against the coronavirus and developing vaccines.
Illumina has been vocal about the importance of using shotgun sequencing to understand the SARS-CoV-2 virus and help stop its spread. We have already seen the use of Illumina’s NextSeq 550, reagents, and shotgun sequencing to prevent the spread in Washington State.
Illumina is also collaborating with major global networks to provide technology where it is needed most. It works with the Centers for Disease Control and Prevention (CDC), The Broad Institute, The National Institutes of Health, and scientists in various research labs, biotechs, and CRO outfits around the world.
Here are a few other COVID-19 solutions the company was instrumental in developing:
- Shotgun Metagenomics: A sequencing method that allows the microbiologist to evaluate the diversity of a bacteria and detect its abundance in various environments. It also offers the ability to study microorganisms that are unculturable and difficult to analyze.
- Respiratory Pathogen Enrichment: This NGS pathogen panel is respiratory-based and includes various bacterias and viruses, including SARS-CoV-2. It not only detects the pathogen but also offers anti-microbial resistance insight in real-time.
- Illumina COVIDSeq Test: The test uses sequencing technology to detect mutations in SARS-CoV-2 to track and predict the emergence of novel strains. With mutations occurring, we must anticipate and preempt the spread of any new strains that could be resistant to current vaccines.
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Biotechnology and advanced scientific methods have never been more critical. With the help of Illumina’s sequencing options and the perseverance of labs, scientists, and researchers across the world, we may be able to better combat and defeat rare and infectious diseases as they arise in the future.
Genetic mutations occur all the time, and we have the capabilities to study them better than we ever have before. If your lab wants to acquire cutting-edge technology and equipment without having to pay the enormous upfront costs, get in touch with us today.
If you’re looking to purchase lab equipment and services from Illumina, talk to us about leasing options first.
Our goal is to outfit your lab with the research equipment it needs to improve the lives of millions around the world. Feel free to contact us today if you’re interested in receiving a lease estimate. One of our leasing reps will talk you through the leasing process and outline the next steps.