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White Papers and Videos

Join the Pharmacogenomics Revolution

White Paper

This infographic from Thermo Fisher Scientific shows how pharmacogenomic testing can improve care, lower costs, and reduce health disparities across medical fields.

Integrating Pharmacogenomics Into the Standard of Care

White Paper

Pharmacogenomics (PGx) is used to understand how variations in key areas of an individual’s DNA may impact the efficacy of a medication, dosage considerations, and adverse drug reactions (ADRs). Ideally, testing is performed in advance of prescribing medication so that the physician or the pharmacist can streamline medication selection, reduce trial-and-error, and minimize ADRs. Alternatively, it can help explain why a medication is not working or causing an ADR to get the individual back on the best therapeutic path.

This white paper from Thermo Fisher Scientific discusses hurdles to the wider adoption of PGx and how PGx can improve care and reduce wasted time and costs for the healthcare system, patients, insurers, and patients’ employers — highlighting applications in oncology, pain management, and mental health.

Pharmacogenomics Laboratory Spotlight: Introduction to the PGx Program at the Arkansas Children’s Hospital

White Paper

In this white paper from Thermo Fisher Scientific, the pathologist-in-chief and the pharmacogenomics (PGx) pharmacy clinical coordinator at Arkansas Children's Hospital discuss how they utilize PGx testing, their considerations when selecting panels, the impact of PCR technology, the future of PGx testing at the hospital, and advice for other labs.

Copy Number Variant Detection Without a Panel of Normals Using Anchored Multiplex PCR and Next-Generation Sequencing

White Paper

Copy number variations (CNVs) are genomic aberrations in which the number of copies of a region of the genome differs from the expected number. Errors in DNA replication, repair, recombination, and other processes can cause CNVs. CNVs may be a cause of disease, a symptom, or both. Copy gains or losses affecting oncogenes or tumor suppressor genes are one mechanism by which cancers may arise, proliferate, or persist. CNVs may be targetable by, or grant resistance to, certain therapies. CNV signatures may indicate chromosomal instability resulting from homologous recombination deficiency.

This scientific poster from IDT introduces a new CNV method designed to work with NGS panels that relies only on data from the sample of interest to determine copy number and breakpoints instead of using matched normal tissue or a panel of normal samples.

McArthur Lab Fights Global Threats to Human Health

White Paper

This case study from Pure Storage describes how Andrew McArthur, genomics professor and researcher at McMaster University, uses Pure Storage FlashBlade to reduce the time to diagnosis, keep up with the demands of COVID-19 surveillance, and develop new ways to combat antimicrobial resistance.

Health2030 Advances Genomic Research for Faster Diagnosis

White Paper

This case study from Pure Storage describes how the Health2030 Genome Center, a Swiss sequencing and analysis center, worked with Pure Storage to improve the storage performance of their data interpretation platform to enable the delivery of more personalized medicine.

AGRF Accelerates Genomic Pipelines by up to 86 Percent with Pure Storage

White Paper

This case study from Pure Storage describes how the Australian Genome Research Facility, a genomics testing and research non-profit, replaced its legacy disk storage with Pure Storage FlashBlade, accelerating its end-to-end genomics pipeline by up to 86 percent.

TrialStat Delivers Real-time Clinical Trial Data with Pure

White Paper

This case study from Pure Storage describes how TrialStat, a company that provides clinical trial data management solutions, improved both the performance and reliability of its solutions by upgrading its storage infrastructure with Pure’s FlashArray.

Generation of Cell Lines Capable of Producing High-Titer Viral Stocks for Use in Vaccine Manufacture and Gene Therapy

White Paper

Antiviral vaccines are essential for preventing epidemic disease; however, their production is often limited by low-yield manufacturing processes. Similarly, the development of gene therapies is constrained during the large-scale production of viral vectors, such as adeno-associated virus delivery platforms for gene transfer.

To speed the pace of these various areas of bioproduction, ATCC optimized three cell lines commonly used in virus manufacturing. ATCC used CRISPR-Cas9 gene-editing technology to develop STAT1- and BAX-knockout cell lines capable of producing high-titer viral stocks. These newly created cell lines can produce model clinical viruses and adeno-associated viruses at titers much higher than the parental cell lines, providing an efficient method for biopharmaceutical companies to increase production while reducing associated costs.

This white paper from ATCC describes the optimization of three cell lines approved for the production of viral vaccines with CRISPR-Cas9 gene-editing techniques to increase their viral production efficiency.

Viral Reference Materials at American Type Culture Collection

White Paper

Viral vectors play a central role in gene therapy. adenovirus, adeno-associated virus, and lentivirus vector gene therapy applications include cardiovascular, metabolic, neurological, immunodeficiency, muscular, and hematology diseases.

This poster from ATCC outlines activities in the production and distribution of gene therapy viral vector reference materials to enable the standardization of techniques between research and manufacturing organizations and facilitate the interpretation of preclinical and clinical data across the field.

Enrichment and Sequencing of Albumin Protein from Urine

White Paper

The identification and analysis of protein markers in biofluids play a crucial role in disease diagnosis. Urine, as a non-invasive sample source, enables the monitoring of disease progression through biomarker analysis. However, traditional methods for detecting biomarkers often overlook important protein variants and require complex techniques.

This application note from Quantum-Si demonstrates enriching human serum albumin from urine followed by sequencing with Quantum-Si’s Platinum next-generation protein sequencing workflow for biomarker analysis.

Quantum-Si’s Next-Generation Protein Sequencing Technology Enables Rapid and Accurate Distinction of Variants of the SARS-CoV-2 Virus

White Paper

Accurate and rapid identification of SARS-CoV-2 variants is crucial for effective surveillance and disease monitoring. Furthermore, patients with long COVID may still have residual spike protein in their blood. Distinguishing variants in long COVID patients via protein sequencing could lead to new understandings and treatment of the disease.

This application note from Quantum-Si presents a method utilizing Quantum-Si’s protein sequencing technology on the Platinum instrument to distinguish the Alpha, Delta, and Omicron variants based on differences in the amino acid sequence of their spike proteins.

Identifying Monoclonal Antibodies with Quantum-Si’s Next-Generation Protein Sequencing Technology

White Paper

Identifying low-abundance monoclonal antibodies in a population of polyclonal antibodies can provide critical insights for diverse applications such as understanding disease mechanisms, disease diagnostics, vaccine development, therapeutic antibody discovery, and serological surveillance. Existing methodologies, despite their utility, come with significant disadvantages including high costs, complex procedures, and time-intensive workflows, which often limit their broad application.

This application note from Quantum-Si presents a method utilizing Quantum-Si’s next-generation protein sequencing technology on the Platinum instrument to successfully identify two low-abundance monoclonal antibodies in a population of polyclonal antibodies.

Velsera Clinical Genomics Knowledgebase

White Paper

As clinical NGS testing volumes grow in response to expanded medical knowledge, new targeted therapy approvals, the commercial availability of large comprehensive gene panels, and favorable coverage decisions, the challenge of quality clinical interpretation and variant classification will also grow.

This technical note from Velsera describes the Velsera Knowledgebase, a component of the Clinical Genomics Workspace that enables users to classify and interpret variants to produce an actionable report, in the context of somatic cancer biomarker reporting.

Elevate Your LDTs: A Blueprint for Success in Precision Genomics for Oncology

White Paper

In the rapidly advancing field of precision oncology, a critical bottleneck in patient care is selecting the most relevant molecular test and using it to identify and accurately interpret the genetic alterations in an individual's cancer. Despite the wealth of genomic information available, these challenges can lead to delays in critical treatment, hindering the promise of our field.

This white paper from Velsera discusses the challenges in multigene analysis in the field of precision oncology, regulatory differences between IVDs and LDTs, reimbursement considerations, and solutions offered by Velsera to navigate these challenges.