The Precision Oncology Divide 

The ability to identify genomic variants has powered precision oncology, allowing clinicians to connect specific mutations to targeted therapies quickly enough to influence treatment decisions. Technologies such as CGP function as key companion diagnostic assays, sequencing hundreds of cancer-related genes and enabling more precise treatment choices for each patient. Although precision oncology has delivered substantial benefits for many cancer types, some cancers, particularly rarer ones, have seen far less impact from these approaches.

A systematic review of 14 CGP studies involving 35,975 patients showed that CGP-guided treatment improved overall survival and progression-free survival across cancer types, but patients with rare cancers were less likely to receive a genomically matched therapy than those with more common cancers¹. A separate study found stark differences across cancer types in how often CGP results led to an approved or experimental biomarker-linked therapy. Lung cancer, the most commonly diagnosed cancer worldwide, saw roughly 20% of patients receive matched treatment, compared to just 2% for pancreatic cancer, the 11^th most common². While pancreatic cancer is not classified as a rare cancer, this finding highlights a gap in therapeutic benefit between cancer types and underscores how the limited maturity of targeted therapies for pancreatic tumors remains a barrier to more personalized care.

Why Rare Cancers Fall Further Behind

Despite this documented benefit, only around 8% of patients currently receive CGP‑guided biomarker-linked therapy, indicating that broader CGP access is needed not only to narrow the rare cancer treatment gap but also to improve outcomes across cancer types more generally. A systematic review of 14 CGP studies found that 40-94% of patients had at least one clinically actionable alteration identified by CGP¹, highlighting that barriers beyond test access, such as therapy availability, interpretation, and workflow, also drive the disconnect between genomic insights and real-world treatment.

Increased CGP testing alone is not enough to close the gap between genomic results and real-world treatment. Most CGP reports do not explicitly rank or prioritize which targetable mutations have the strongest clinical evidence. In the absence of standardized frameworks, different clinicians may interpret the same findings differently, meaning some patients may never be offered a potentially effective targeted therapy. Compounding this, there is still no uniform guidance on which tumor types should routinely receive CGP, so decisions about whether to test are often left to individual clinical teams, introducing further inconsistency. When CGP is performed, clinicians must often manually judge which alterations are truly actionable, adding workload to already stretched teams and increasing the risk that a clinically meaningful, possibly life‑changing mutation is missed simply due to limited time and resources.

Closing the Gap

Closing the rare cancer treatment gap will require more than simply ordering CGP more often. It will require changes in how results are interpreted, acted on, and shared across systems.

Molecular Tumor Boards

A minority of CGP studies make use of the insights of a molecular tumor board (MTB), a multidisciplinary panel of oncologists, geneticists, pathologists, and pharmacologists who convene to review a patient’s genomic profile and collectively recommend the most clinically appropriate, evidence-supported treatment option. Importantly, in studies where MTB review was used, patients consistently had better outcomes than when treatment decisions were made independently by individual physicians, underscoring that expert, structured interpretation may be just as critical to closing the treatment gap as access to the test itself¹.

Tumor Agnostic Biomarkers

A promising way to narrow this gap is to focus on tumor‑agnostic biomarkers that can be directly linked to specific treatments, regardless of where the cancer originates. Examples include global tumor mutational burden and microsatellite instability status, both already used to guide pan‑tumor immunotherapy approvals². By anchoring decisions to these molecular features rather than anatomical sites, CGP‑derived biomarkers can extend targeted options to patients with rare cancers, helping them access therapies even when tumor‑specific approvals for their cancer type do not yet exist.

Liquid Biopsies and Additional Analyses

Another promising way to expand CGP’s value in rare cancers is through more accessible biomarkers. Liquid biopsies can capture circulating tumor cells and circulating tumor DNA, enabling CGP when tissue is scarce or difficult to obtain. Combining CGP with additional analyses can also increase the yield of actionable findings from tumor samples. For instance, integrating transcriptomic profiling links genomic mutations to gene expression patterns and provides richer biological context, making it easier to translate genomic insights into concrete treatment decisions.

Global Data-Sharing and Harmonized Knowledgebases

Today, variant interpretation is spread across multiple, partially overlapping databases, so clinicians have no single, unified reference for assessing genomic findings. Mutations from rare cancers are less likely to be comprehensively represented in all of these resources, increasing the risk that a clinician using one database may miss a potential targeted option that appears in another. Aggregating CGP results into harmonized, shared knowledgebases would enable more powerful analyses and help reveal cross‑tumor patterns in rarer cancers, improving variant interpretation and supporting more informed, evidence‑based treatment decisions.

Conclusion

Broader CGP access is a critical step toward closing the rare cancer treatment gap, but it is not the whole story. As more patients are tested, CGP will continue to uncover a high proportion of clinically actionable alterations, with systematic data suggesting rates as high as 94%. However, only a small minority currently receive genomically matched therapy. Without parallel investment in downstream interpretation and treatment pathways, including molecular tumor boards, standardized evidence‑tiering for variants, and more reliable access to matched drugs and trials, expanded testing will mostly increase the number of unrealized opportunities rather than consistently translating findings into better outcomes. Access to robust CGP analyses, particularly those integrating genomic alterations with transcriptome data, will expand the pool of clinically relevant biomarkers and increase the likelihood that patients with rare cancers can be matched to effective therapies and trials.

Reach out to Sampled’s experts to learn more about CGP and how it can be combined with additional omic layers in our CLIA‑licensed, CAP‑accredited fully integrated analytical laboratory and biorepository.

References

1. Limaye S, Deshmukh J, Rohatagi N, et al. Usefulness of Comprehensive Genomic Profiling in Clinical Decision-Making in Oncology: A Systematic Review. J Immunother Precis Oncol. 2025;8(1):55-63. doi:10.36401/JIPO-24-11 

2. Saito Y, Horie S, Kogure Y, et al. Real-world clinical utility of comprehensive genomic profiling in advanced solid tumors. Nat Med. 2026;32(2):690-701. doi:10.1038/s41591-025-04086-8 

Piscataway, NJ – Sampled, an integrated analytical laboratory and biorepository, has partnered with 10x Genomics to offer a Spatial In Situ Gene Expression Services Grant, using the Xenium Prime 5K assay, for researchers across the United States.

Spatial transcriptomics is a rapidly growing field that allows scientists to map gene expression across different conditions within a tissue’s natural architecture. This approach has important applications in both physiological and disease research, including studies of tumor microenvironments and neurodegenerative tissues, by revealing cellular activation states, developmental trajectories, and cell identities.

In support of bold research aimed at advancing our understanding of health and disease, Sampled is excited to announce a new grant opportunity: one researcher will be awarded a complete 10x Genomics Xenium Prime 5K assay workflow for four slides, worth $46,000, performed end-to-end by our technical experts. The awardee may submit fresh-frozen or FFPE tissue and will receive a comprehensive dataset covering cell boundaries, transcript locations, gene expression profiles, and the spatial organization of cells and transcripts.

The 10x Genomics Xenium platform is a best-in-class technology for spatial gene expression mapping. A single slide using the Xenium Prime 5K panel provides expression analysis of approximately 5,000 genes across intact tissue containing an imageable area of 236mm². Insights gained from the Xenium can provide a powerful starting point or complementary dataset for diverse research programs spanning discovery through to translational work. The Xenium helps to answer research questions centered on complex cellular interactions, such as tracking the evolution of cancer tissue and assessing immune cell dynamics post-treatment.

Sampled supports state-of-the-art research as a Certified Service Provider for 10x Genomics Xenium In Situ, Visium Spatial, and Chromium Single Cell platforms. As a leader in cellular and molecular biology platforms, 10x Genomics enables researchers to generate high-resolution insights into gene expression, cellular identity, and tissue architecture, powering the next generation of discoveries.

In addition to delivering end-to-end workflows using 10x Genomics platforms, Sampled’s integrated services span sample collection, storage, processing, and bioinformatics analysis. By applying expertise at every step, we help protect sample integrity and generate robust, reliable data to support research and downstream decision-making.

About Sampled

Sampled is a fully integrated laboratory and biorepository service provider delivering solutions for collecting, analyzing, and storing biological samples. Founded in 1999 as RUCDR at Rutgers University, Sampled provides state-of-the-art biobanking, multiomics, cell services, and custom clinical kitting solutions. Sampled’s CAP-accredited and CLIA-licensed operations support high-quality sample storage, management, and analysis, empowering life science organizations to speed time to reliable data, enable new discoveries, and advance human health. 

Media Contact

Caroline Mitchell, PhD

Director, Content & Creative Strategy, Sampled

communications@sampled.com

At Sampled, we specialize in providing high-quality NGS services to researchers across the globe. Our team of experts has extensive experience in designing experiments, optimizing protocols, and interpreting results, ensuring that the data generated is of high quality and relevance to the research question. In this article, we will explore 7 key benefits of outsourcing NGS services.

Access to Expertise

NGS is a highly specialized field where the technology is constantly evolving, and keeping up with the latest developments can be challenging. Here at Sampled, our highly skilled experts have years of experience in this field and have the necessary expertise and knowledge to deliver high quality and accurate results. Furthermore, our team stay up to date with the latest advancements in the field by working with sequencing partners closely. We will work with you to help design experiments, optimize protocols, and interpret your results if you require access to a Bioinformatics team. This expertise can help ensure that the data generated is of high quality and relevant to the researchers’ aims and objectives.

Cost-Effectiveness

The cost of setting up an in-house NGS facility can be prohibitive for many research organizations. Not only does it require the purchase of expensive equipment, but also ongoing maintenance, upgrades, and personnel costs. Outsourcing NGS services can be a cost-effective alternative. Sampled can provide customized service packages that fit within your budget, without compromising on quality or turnaround time. This means that sequencing costs can be reduced, allowing researchers to allocate more resources to other areas of their research.

High-Quality Data

The quality of the data generated by NGS can vary depending on several factors, including sample preparation, sequencing platform, and bioinformatics analysis. A specialized NGS provider, like Sampled, can ensure that each step of the process is optimized for quality. We use state-of-the-art equipment, standardized protocols, and rigorous quality control measures to ensure that the data generated is accurate and reliable.

Faster Turnaround Time

NGS can be a time-consuming process, with each step taking several days to weeks to complete. Outsourcing NGS services can help accelerate the research timeline. At Sampled our team of experts work quickly and efficiently, without compromising on quality. We can provide fast turnaround times, allowing researchers to get their results faster and move on to the next stage of their research. This can be critical in situations where time is of the essence, such as when studying outbreaks of diseases or if demand surges due to unforeseen circumstances.

Customized Service Packages

Every research project is unique, and NGS service providers should be able to provide customized service packages that meet the specific needs of each project. Sampled offers a wide range of services, from whole-genome sequencing to targeted sequencing to transcriptomics. This includes options such as the choice of the sequencing platform to be used, the number of reads, and the level of coverage. We can work with researchers to design experiments that fit their research question and budget. We also provide flexible service options, such as pilot studies and data analysis only, to help researchers get the most out of your NGS data.

Reduced Risk of Errors

NGS involves multiple complex steps, from sample preparation to bioinformatics analysis, and each step has the potential for errors. Outsourcing NGS services to Sampled can help reduce the risk of errors. We have extensive experience in handling different types of samples, optimizing protocols, and troubleshooting technical issues. Moreover, we have stringent quality control measures in place to ensure that errors are identified and corrected.

Scalability

Research projects can vary in size and scope, and NGS service providers should be able to scale their services accordingly. Because we invest in multiple platforms, Sampled has the capacity to handle large-scale projects, with the ability to process thousands of samples per month. We can also work with researchers to develop customized workflows that can be scaled up or down depending on the project’s needs. Altogether, this means that researchers can scale their projects without having to invest in expensive equipment or hire additional staff.

What NGS Services Does Sampled Provide?

Sampled provides a wide range of NGS services using leading technologies such as Illumina, PacBio, and Twist Biosciences:

• Whole Genome Sequencing
• Whole Exome Sequencing
• Amplicon Sequencing
• Whole Transcriptome Sequencing
• mRNA Sequencing
• 10X Genomics Single Cell gene expression
• Storage and transportation of single cells
• Metagenomic Sequencing
• PacBio Long Read sequencing
• Custom panel design and sequencing

In conclusion, outsourcing NGS services to Sampled enables access to expertise, cost-effectiveness, high-quality data, faster turnaround times, customized service packages, reduced risk of errors, and scalability. Our team of experts can work with you to design experiments that fit your research question and budget and deliver high-quality results that help you to advance your research. Contact us today to learn more about our NGS services and how we can help you to achieve your research goals.

What is Long Read Sequencing?

Long read sequencing refers to a DNA sequencing technique that generates significantly longer DNA reads compared to traditional short read sequencing methods. The ability to read longer stretches of DNA has numerous benefits, including:

Unraveling Complex Genomic Regions

Long read sequencing is particularly advantageous in deciphering complex genomic regions, such as repetitive sequences or structural variations, where short read sequencing often falls short.

Facilitating De Novo Assembly

The reconstruction of a genome without a reference sequence is greatly improved with long read sequencing. This is especially valuable when studying non-model organisms or those with complex genomes.

Enhancing Transcriptome Analysis

Long read sequencing aids in the accurate identification of alternative splicing events and provides a more comprehensive view of the transcriptome, shedding light on the diversity of RNA isoforms.

What is HiFi Long Read Sequencing:

High Fidelity (HiFi) long read sequencing takes long read sequencing a step further by minimizing errors in the sequencing process. It achieves this by reducing the error rates associated with DNA sequencing, ensuring greater accuracy in the resulting genomic data. PacBio’s Revio is one example of a platform that performs HiFi long read sequencing offering high throughput, and ease of use to a foundation of long reads, exceptional accuracy, and direct methylation detection. The key benefits of HiFi long read sequencing include:

Precision in Variant Calling

HiFi long read sequencing is crucial for accurate identification of single nucleotide polymorphisms (SNPs) and other genetic variations. This precision is especially valuable in clinical genomics and personalized medicine.

Improving Genome Annotation

Higher sequencing accuracy enhances the reliability of genome annotations, ensuring that researchers can confidently interpret and annotate genes, regulatory elements, and other genomic features.

Enabling Rare Variant Detection

The improved accuracy of HiFi long read sequencing allows for the detection of rare genetic variants that may have clinical implications, providing valuable insights into the genetic basis of diseases.

Advantages of Outsourcing High Fidelity Long Read Sequencing

Outsourcing HiFi long read sequencing to specialized service providers offers several advantages for researchers:

Expertise and Experience

Service providers such as Sampled have a team of experts with extensive experience in HiFi long read sequencing, ensuring reliable and high-quality results. Our expertise is at your disposal allowing you to save time and resources on optimization and training staff internally to setup long read sequencing projects.

Access to cutting edge platforms

Outsourcing allows researchers to access cutting-edge sequencing technologies and equipment without the need for significant capital investment, ensuring the use of the latest advancements in the field. Sampled are Certified Service Providers for PacBio and Illumina which allows us to provide high quality HiFi long read sequencing services to our clients since we work with and are trained by the manufacturers of these sequencing platforms.

Cost-Efficiency

By outsourcing, researchers can avoid the costs associated with purchasing and maintaining expensive sequencing equipment. This not only allows researchers to allocate resources more efficiently, focusing on data analysis and interpretation but also shifts capital expenditure to operational expenditure.

Scalability

At Sampled, we can scale to meet your needs based on the research project/s you are running, accommodating for variations in sample sizes and throughput requirements. This lets you focus on the research that matters most instead of shifting deadlines to accommodate the changing of samples that need to be sequenced. Including options for short read sequencing with platforms like the Illumina Novaseq X Series.

HiFi long read sequencing is transforming genomic research, enabling scientists to explore the intricacies of the genome with unprecedented accuracy. As outlined above, outsourcing HiFi long read sequencing to Sampled offers researchers a strategic and cost-effective approach to harnessing this powerful technique, allowing you to focus on the scientific discoveries that will shape the future of genomics.

Contact our team today to learn how we can support your research with our HiFi Long Read Sequencing capabilities.

Pharmacogenomics (PGx) is the study of how variation in certain genes correlates with the response of an individual to a particular drug or therapy. It involves the analysis of the genetic sequence of an individual to predict how they will respond to a compound. When a gene variant correlates with a particular drug response in a patient, there is the potential for making clinical decisions based on genetics by adjusting the dosage or selecting a different drug treatment. This potential allows for clinicians to make medical treatment personalized and therefore safer and more effective for patients.

PGx spans numerous applications in the medical field, such as drug development, personalized medicine, as well as disease diagnosis. It can be used by researchers and clinicians to optimize drug therapies to minimize potential side effects and increase drug efficacy. Moreover, it is utilized to help to identify individuals who may be at higher risk of adverse drug reactions, enabling clinicians to personalize drug treatment options.

Innovations in Pharmacogenomics

Historically, Sanger sequencing has been the gold standard for confirming genetic variants, however this method is time-consuming and is not suitable for large sample sizes. For this reason, microarray technology has become increasingly prevalent as an assay in pharmacogenomics and precision medicine. Today, microarrays can identify tens of thousands of genes in thousands of samples per week with high-throughput workflows with the power to detect detect small nucleotide polymorphisms (SNPs) and copy number variations (CNV).

One such array, the Illumina Infinium Global Diversity Array with enhanced PGx content (GDA), has stood out from the crowd. The GDA has been described as the most comprehensive genotyping microarray on the market for pharmacogenomics research. with >1.9M markers, access to high-impact PGx genes, and optional reporting software.

Features of the Illumina Global Diversity assay with enhanced PGx content

This trusted Infinium assay has been run on millions of samples, including more than 5,000 here at Sampled. The assay provides¹:

• Over 44,000 genome-wide PGx markers spanning more than 2000 pharmacogenomic targets.
• >6000 variants from globally recognized PGx databases, including PharmGKB, CPIC, PharmVar, and ClinVar
• 100% coverage of priority level A and B CPIC genes2
• Accessibility of hard-to-discern PGx genes like CYP2D6, CYP2B6 and TPMT
• Over 13,000 more markers than existing Global Diversity Array
• Automated, scalable workflow with 3-day turnaround time
• A targeted gene amplification (TGA) step for accurate genotyping of critical genes like CYP2D6, CYP2B6, and TPMT
• Accurate CNV calling

Furthermore, with the interpretation software, researchers can receive a report that contains metabolizer status and star allele callers. The GDA bead chip requires the Iscan system, a proven and versatile microarray scanner. The IScan system is designed for scalability and for high volume projects. The instrument’s throughput ranges between 1700 to more than 16,000 samples per week, depending on the BeadChip used. The use of the iScan system in GDA workflows enables customers to incorporate automated liquid handling and sample tracking, eliminating user to user variability by minimizing the number of manual interventions.

How a Global Integrated Analytical Biorepository can enhance Pharmacogenomics

Working with a Global Integrated Analytical Biorepository such as Sampled benefits pharmacogenomics researchers in several ways. Firstly, Sampled provides a centralized platform for collecting, storing, and analyzing genetic data from individuals worldwide. Our biorepository is equipped with sophisticated analytical tools and platforms that enable scientists to perform large-scale data analyses and identify drug-gene interactions. By storing and analyzing your samples within a centralized facility, researchers can ensure sample integrity as they no longer have to be shipped from various labs and storage facilities which also saves on transportation costs. Here are five more reasons to enhance your PGx research by outsourcing to Sampled.

1. Expertise: Outsourcing PGx to Sampled gives your group access to a team of highly skilled experts with a high level of knowledge in pharmacogenomics and a track record of performance. Our experts utilize the latest tools and technology such as Illumina’s  GDA and the IScan platform to provide accurate and reliable results. Sampled is a College of American Pathologists (CAP)- and Clinical Laboratory Improvement Amendments (CLIA)-certified Laboratory and has Research Use Only (RUO) and clinical PGx workflows in place.
2. Cost-Effective: Outsourcing pharmacogenomics can significantly reduce the overall cost of running your investigations. High throughput workflows for PGx research require major investments in infrastructure, technology, staff training and maintenance fees, which Sampled has already invested in so that you don’t have to.
3. Faster Turnaround Time: Setting up new technologies and optimizing platforms and workflows takes time. At Sampled we have the necessary expertise and resources to finish work quickly and efficiently, since our experts are highly skilled in this field. Providing faster turnaround times for Pharmacogenomic research that allows you to meet your deadlines.
4. Scalability: With an outside service provider taking care of all steps in the workflow, companies and organizations have more bandwidth to focus on their core business operations rather than dedicating time to running a lab for pharmacogenomics testing. Moreover, if you need to scale up/down your research, we can accept more/less samples in a given time frame without any disruption to you.

The use of expert service providers such as Sampled, for Pharmacogenomics testing presents several advantages, including efficiency, expertise, global reach, and cost-effectiveness. The rising demand for pharmacogenomics testing highlights the need for a specialized partner to handle research and diagnostic requirements. By outsourcing Pharmacogenomics testing, companies and organizations can take advantage of these benefits, streamline their operations, reduce costs, and focus on their core competencies.

References

1. Infinium Global Diversity Array with Enhanced PGx Webpage: https://www.illumina.com/products/by-type/microarray-kits/infinium-global-diversity-pgx.html

Since the first human genome was sequenced over two decades ago, DNA sequencing has progressed from researchers having to laboriously read each DNA letter individually. The development of high-throughput DNA sequencing has allowed for increased speed and accuracy in reading genetic information.

However, with this improvement in sequencing technology, two distinct approaches have emerged: long read sequencing and short read sequencing. These approaches have their advantages and disadvantages, and understanding the differences between the two techniques, is essential to choose the optimal technique for specific applications.

What is short read sequencing?

Short-read sequencing, as the name implies, involves reading short fragments of DNA typically ranging from 50 to 300 base pairs, and can generate millions to billions of reads. The process involves breaking DNA into small pieces, attaching adapters to each end, and running these pieces through a sequencer.

This process amplifies the number of copies of each fragment, improving sequencing accuracy making it a powerful tool for generating genomic data. Through short read sequencing, DNA or RNA can be sequenced in less time and at a lower cost than traditional methods. This technology has helped to revolutionize biomedical research and has led to important discoveries in personalized medicine as well as studying disease and evolution.

Short read sequencing is employed in applications that involve counting the abundance of specific sequences, identifying variants within well-conserved sequences, or for profiling the expression of particular transcripts.

One of the key advantages of short read sequencing is that it provides high depth coverage, which means that researchers can generate a large number of reads that overlap with each other. By overlapping reads, researchers can identify similarities and/or differences and locate mutations that can be used to identify disease states or act as targets for drug discovery.

Another advantage is that short read sequences are less expensive to produce, which makes them ideal for large scale projects involving many samples.

Sampled is proud to be partnered with Illumina, who are the leading manufacturer of short read sequencers. For many years they have led the way in creating powerful tools for genome assembly, transcriptome analysis, variant detection, and targeted resequencing.

The NovaSeq 6000 platform offers Whole genome, whole exome and whole transcriptome sequencing applications, scalable throughput and is employed by leading research centers around the globe. To learn more about how their short read sequencing technology could accelerate your research click here.

Short read sequencing is an effective tool, but there are some areas of research where it is not suitable. Since this technology cannot sequence long contiguous pieces of DNA due to the read length limitation mentioned earlier, it is not suitable for assembling entire genomes. This is where long read sequencing can help.

What is long read sequencing?

Long read sequencing, also known as third-generation sequencing, reads much longer stretches of DNA, ranging from a few thousand to hundreds of thousands of base pairs. These longer reads allow researchers to identify complex structural variations such as large insertions/deletions, inversions, repeats, duplications, and translocations. Long read sequencing technology can also be used to phase Small Nucleotide Polymorphisms (SNPs) into haplotypes, build scaffolds for de novo assembly and resolve splicing events in full length cDNA.

Although initially the technology was seen to have a lower yield and higher error rate, companies such as PacBio have since improved the chemistry on their instruments, enabling “HiFi sequencing” which uses circular consensus sequencing (CCS) to read long stretches of DNA accurately. Briefly, the CCS method allows DNA to pass through the zero-mode waveguide chip several times, generating highly accurate reads of at least 99.8%, similar to short read sequencing platforms.

Long read sequencing platforms such as those from PacBio can now sequence up to 25kb base pair sequences with an error rate closer to that seen in short read sequencing. Learn more about how our partnership with PacBio and how their Hi-Fi long-read sequencing platforms can accelerate your research here.

Long Read vs. Short Read – which to choose?

In summary, both short read sequencing and long read sequencing have their strengths and favour different applications. Short read sequencing can be faster, cheaper, and can generate high coverage; it is ideal for targeted resequencing, transcriptomics, and variant detection. Whereas long read sequencing can read contiguous stretches and handle complex regions of the genome; it is ideal for de novo genome assembly and structural variation detection. By understanding the differences between the two techniques, researchers can choose the appropriate sequencing method for their specific research needs.

If you wish to learn more about how outsourcing short and long read sequencing can save you on expenditure and accelerate your research, contact one of our experts today

Piscataway, NJ, July 11, 2023 – Sampled¹ today announced that it has been named a Certified Service Provider for PacBio, a leading developer of high-quality, highly accurate sequencing solutions, equipping Sampled to deliver the highest quality advanced sequencing technology services on PacBio’s technology.

To achieve this certification, providers must undergo a rigorous process including training on PacBio sample processing and data analysis workflows. Sampled has added long-read sequencing technologies to its already industry-leading, advanced integrated analytical-biorepository suite of capabilities to Store, Manage, Analyze, Research and Transport biosamples for its clients.

“We are very proud to have been named a Certified Service Provider for PacBio, one of the leading providers of sophisticated sequencing technologies,” stated Shareef Nahas, Ph.D., Sampled’s Chief Scientific Officer. “Through this partnership, we can provide our clients with some of the world’s most advanced technologies and capabilities, enabling them to make important breakthroughs in their discovery and development programs.”

“We are delighted to announce Sampled as a Certified Service Provider,” said Jeff Eidel, Chief Commercial Officer at PacBio. “The robust certification process requires companies to meet very strict training and quality standards. Sampled and PacBio are both dedicated to supporting the scientific community in their genomic research projects, and we look forward to continuing to grow our partnership as Sampled scales on Revio and adopts future technologies developed by PacBio.”

“At Sampled, we are always striving to innovate and bring the most cutting-edge services to our clients, so we are delighted to now offer the PacBio long-read sequencing technology,” said Robin Grimwood, Chief Executive Officer at Sampled. “Our thanks to the PacBio team for their partnership and collaboration as we work together for the benefit of our clients.”

About Sampled

Sampled is a next-generation laboratory that unlocks the valuable data in any biological sample. Through our integrated lab services, we can Store, Manage, Analyze, Research and Transport biological materials, offering partners a seamless solution for all research samples. Our vision is a world where we make it faster and easier for health innovators to improve human health, with a mission for Sampled Labs to be behind every transformative health innovation. Sampled is headquartered in Piscataway, N.J. with labs across the US and Europe and partner labs in the Netherlands, China and Australia.

Infinity BiologiX LLC, Roylance Stability Storage Limited and Roylance Scientific Limited are doing business as Sampled. For more information, please visit www.sampled.com

Across the globe researchers have been deciphering the genetic code to identify the sequences of nucleotides in the human genome that code for proteins. In many cases, they are attempting to identify and understand small nucleotide variants (SNVs) that lead to mutations and can cause disease. Although human DNA is comprised of over 3 billion base pairs, only 1% (30 million) of these base pairs make up protein-coding regions. These regions are referred to as exons, of which there are approximately 180,000 exons that comprise the human exome.

What are the benefits of Whole Exome Sequencing over other sequencing methods?

Unlike whole genome sequencing (WGS), which sequences the entire genomic content of a DNA sample, WES sequences the DNA that make up the exonic regions of the genome. This is often favorable for researchers who are only interested in the protein-coding regions of the genome because it is cheaper to sequence this much smaller region. Moreover, most known mutations that cause disease occur in exons and therefore it is thought to be more efficient to identify these disease-causing mutations by sequencing the exome, rather than the whole genome.

Researchers and clinicians are more likely to outsource their WES needs for the following reasons.

• Outsourcing can be cheaper than doing it in-house
• Access to greater expertise
• Ability to scale research at speed

Here we break down these three reasons:

Outsourcing WES can be cheaper than doing it in-house

The first step to completing any kind of WES research involves acquiring the right tools, including expensive machinery, such as Illumina’s NovaSeq 6000 platform. This will incur a large cost to researchers as such platforms can cost millions of dollars and require a lot of money to run and service annually. Not to mention the costs of consumables which can cost more than you might think, depending on the number of samples you need to sequence and how frequently the platform is used. Outsourcing WES to Sampled will cost a fraction of the cost of purchasing the equipment and allows researchers to leverage cutting edge sequencing platforms such as the NovaSeq 6000 and if necessary, enquire about the best experimental designs for their investigations by working with our experts.

Greater expertise

Working with sequencing platforms and completing WES investigations can be daunting if you are new to sequencing or have never performed WES before. Even if you have the right sequencing platform in-house, you may not have the right team of experts to sequence your samples, as just one mistake in sequencing can result in costly errors that could lose your team time and resources. This is especially important if the sample you’re looking to sequence is finite or irreplaceable. This is another reason why researchers are outsourcing their work to Sampled, as our highly trained experts are able to help you with experimental design and reduce turn-around-times.

The ability to scale research and decrease turn-around times

In clinical settings, there may be a team dedicated to sequencing patient samples using a sequencing platform. Likewise larger research groups may have a similar team and platform in place to study or identify SNVs which lead to a particular disease. However, the ability to scale up research due to shifting demands is crucial for both groups to be successful. This is where outsourcing WES to Sampled can help both clinicians and researchers. We can take excess samples that arrive at the lab and sequence them for you in order to ensure that a patient won’t have to wait longer than is necessary to receive their diagnosis. Likewise, for non-clinical sequencing results we can provide 100x coverage from as little as 1 business week.

Sampled can help with your whole exome sequencing needs by:

• Reducing your overheads by sparing you the costs of purchasing and maintaining sequencing platforms.
• Not having to hire new team members to run WES investigations by providing you with highly trained experts who can do the heavy lifting for you.
• Scale up or down as you see fit, allowing you to meet deadlines and manage your workload

To talk to an expert about how we can help you with your whole exome sequencing needs, click here.

What is Bulk RNA sequencing?

Bulk RNA sequencing measures the average gene expression across a population of heterogenous cells. In this method, RNA from many different cell types are extracted, pooled together, and sequenced. This provides an average expression profile for the entire population of cells, which can be useful for identifying differentially expressed genes between different tissues, conditions, or time points. However, Bulk RNA sequencing cannot distinguish gene expression differences between individual cells within the population and can mask rare cell populations, subtle transcriptional differences or differences in gene expression over time.

What are some of the applications of Bulk RNA sequencing?

• Gene expression profiling: Bulk RNA sequencing is commonly used to study gene expression patterns in different tissues, cell types, or under different experimental conditions, such as disease states, drug treatments, or time-course experiments.
• Differential gene expression analysis: By comparing gene expression profiles with Bulk RNA sequencing between different conditions, researchers can identify differentially expressed genes, which can provide insights into the biological processes and molecular pathways involved in these conditions.
• Transcriptome annotation: Bulk RNA sequencing can be used to identify novel transcripts, isoforms, and non-coding RNAs, as well as to annotate and refine existing genome annotations.
• Alternative splicing analysis: Researchers can use Bulk RNA sequencing to study alternative splicing events, which can help uncover the functional consequences of alternative splicing and its regulation.
• Identification of fusion genes and gene fusions: Bulk RNA sequencing can help identify fusion genes and gene fusions, which are often associated with specific cancer types.

What is Single-cell RNA sequencing?

Single-cell RNA sequencing analyzes the gene expression profiles of individual cells derived from homogenous and heterogenous populations. This technique isolates single cells, typically by encapsulation or by flow cytometry, and then amplifies and sequences the RNA from each cell separately. This high-resolution approach allows researchers to identify cell types, states, and subpopulations. Single-cell RNA sequencing can also reveal cellular heterogeneity and rare cell populations that might be masked in bulk RNA-seq data.

What are some of the applications of Single-cell RNA sequencing?

• Cellular heterogeneity: Single-cell RNA sequencing is particularly useful for studying cellular heterogeneity within tissues, revealing distinct cell populations and states that might be masked in bulk RNA-seq data.
• Cell type identification and characterization: By comparing gene expression profiles of individual cells, researchers can identify and characterize novel or rare cell types, as well as further refine known cell types.
• Developmental biology: Single-cell RNA sequencing can be used to study cellular differentiation, lineage tracing, and developmental trajectories in various organisms, providing insights into the mechanisms governing cellular fate decisions.
• Characterizing tumor microenvironment: Single-cell RNA sequencing is valuable for studying the tumor microenvironment, which comprises diverse cell types, including cancer cells, immune cells, and stromal cells. This can help researchers understand the interactions between these cells, how their states change over time, their roles in cancer progression and response to therapy.
• Immune cell profiling: Single-cell RNA sequencing can be used to profile immune cells, identifying subpopulations and their activation states, as well as understanding their roles in disease processes, such as autoimmunity or infection.
• Gene regulatory network analysis: By studying gene expression patterns in individual cells, researchers can infer gene regulatory networks and identify key regulators of cellular processes and cell fate decisions.

So, Bulk RNA sequencing (bulk RNA-seq) provides an average gene expression profile for a population of cells, while Single-cell RNA sequencing (scRNA-seq) allows for the study of gene expression in individual cells. The choice between these methods depends on the research aims, with bulk RNA-seq being useful for studying overall trends and differences in gene expression between conditions, and scRNA-seq providing a more detailed view of cellular heterogeneity and the transcriptional landscape of individual cells.

Why Outsource Bulk RNA sequencing or Single-cell RNA sequencing?

Outsourcing bulk or single-cell RNA sequencing to specialized service providers or core facilities can offer several advantages:

Expertise: RNA sequencing experiments require expertise in sample preparation, library construction, sequencing, and data analysis. At Sampled, our experts are able to work with you create the right experimental design using established protocols to ensure high quality data is generated. This also means you can save on expenditure as you do not need to hire experts to sequence your samples.

Access to advanced technology: Sampled has access to the latest sequencing platforms and instruments such as the 10x Genomics Chromium Connect and Chromium X apparatus. We take away the cost of purchasing expensive platforms and associated consumables so that researchers can benefit from cutting-edge technology without incurring the high costs associated with purchasing and maintaining such equipment.

Cost-effectiveness: Outsourcing can be more cost-effective, especially for small-scale projects or labs with limited resources. Sampled can process samples in large batches, which can reduce costs per sample.

Time savings: RNA sequencing experiments can be time-consuming, especially for researchers with limited experience. Outsourcing can save time by allowing researchers to focus on other aspects of their work while experienced technicians handle the sequencing process.

Customization and scalability: Service providers can offer customizable solutions tailored to the specific needs of a project, from experimental design to data analysis. They can also scale up to handle large sample sizes, accommodating projects with varying levels of complexity and sample numbers.

Data analysis support: Sampled goes beyond just sequencing your samples, we offer comprehensive data analysis support, including quality control, normalization, differential expression analysis, and functional annotation. This can be helpful for researchers who may not have extensive bioinformatics expertise.

In conclusion,  outsourcing your bulk or single-cell RNA sequencing to Sampled can provide access to expert knowledge, advanced technology, and cost-effective solutions – allowing researchers to focus on what they do best; core scientific questions, obtaining high-quality data to advance their research and bring treatments to market faster.

Reach out to our team of experts to learn more about how our Sampled Labs are here to support your research today.

As an NGS ProLab, Sampled can provide researchers and scientists with access to Twist Bioscience NGS technology, so that they can more easily and efficiently perform large-scale genomic research.

“We are very proud to have been named an NGS ProLab by Twist Bioscience, and to provide our clients with access to, expertise and resources that may not be available in-house,” stated Shareef Nahas, Ph.D., Sampled’s Chief Scientific Officer. “By partnering with industry-leading technology providers like Twist Bioscience, we allow our clients to focus on their research results while Sampled does the heavy lifting. This will allow them to increase efficiency and productivity, reduce costs, and speed up the development of new products.”

“By becoming an NGS ProLab, Sampled is now able to add Twist Target Enrichment and Library preparation solutions to its arsenal of lab services, providing high quality data and results,” said Emily M. Leproust, Ph.D., CEO and co-founder of Twist Bioscience. “Our ProLabs are trained and certified to run Twist NGS solutions, enabling more researchers to benefit from the high uniformity of our probes, which allow for deep sequencing of targeted regions.”

“At Sampled, we are always striving to innovate and to offer the latest and most sophisticated technologies available, so we are delighted to bring Twist’s Next-Generation Sequencing tools to our clients around the world,” said Aaron Venables, Chief Commercial Officer at Sampled. “Our goal is to be the leading global, integrated, analytical biorepository, and to offer a range and depth of services and technologies that is unrivaled.”

About Sampled

Sampled is a next-generation laboratory that unlocks the valuable data in any biological sample. Through our integrated lab services, we can Store, Manage, Analyze, Research and Transport biological materials, offering partners a seamless solution for all research samples. Our vision is a world where we make it faster and easier for health innovators to improve human health, with a mission for Sampled Labs to be behind every transformative health innovation. Sampled is headquartered in Piscataway, N.J. with labs across the US and Europe and partner labs in the Netherlands, China and Australia.

Infinity BiologiX LLC, Roylance Stability Storage Limited and Roylance Scientific Limited are doing business as Sampled. For more information, please visit www.sampled.com