Hemoglobin, accounting for more than 95 percent of the protein mass in erythrocytes, is often a troublesome interfering factor for many types of analysis, both proteinaceous (i.e., immunoassay) and non-proteinaceous (i.e., PCR). With the rising use of dried blood cards and point-of-care devices, analytical interferences from hemoglobin continue to present problems.

This white paper from Biotech Support Group describes published research demonstrating the utility of BSG hemoglobin removal products for depleting interfering protein for protein and non-protein analysis applications.

Precision medicine is transforming cancer care, with next-generation sequencing (NGS) enabling the simultaneous analysis of multiple genomic alterations with therapeutic implications. However, due to the sporadic nature of somatic cancers and the increasing uptake of NGS testing, the number of detected variants is exponentially growing, challenging labs to confidently identify meaningful mutations that could influence or improve decisions at the point of care. Approximately 50 percent of the oncologists in the United States find NGS results sometimes or often difficult to interpret, while 31 percent of small to medium-sized labs in Europe view a lack of knowledge and exposure to routine analyses and interpretation as the most critical bottleneck in NGS testing [1-2].

In this webinar, Ana Krivokuca will present a real-world use case of how the Institute for Oncology and Radiology of Serbia (IORS), a national cancer research center that provides routine NGS testing for cancer patients, uses the Human Somatic Mutation Database (HSMD) in their NGS testing pipeline to validate, assess, and better understand the clinical significance of detected variants.

A new somatic database from QIAGEN, HSMD combines two decades of expert-curated content with data from over 300,000 real-world clinical oncology cases to provide deep genomic insight into the molecular characterizations of a patient’s tumor. Easy to search with new content added weekly, HSMD enables users to explore key genes or mutations with driving properties or clinical relevance, search for associated treatment options, evaluate secondary findings, and develop customized gene panels.

Attendees will:

• Learn how IORS uses HSMD to identify actionable variants, analyze complex reports,  evaluate secondary findings, and design custom gene panels.
• Explore HSMD content and features through a virtual demonstration.
• Receive a complimentary, five-day trial of HSMD.

As non-invasive prenatal testing (NIPT) continues to develop and its uptake quickly rises worldwide, appropriate validation and quality controls are required to ensure the highest testing quality and safety for patients. This could also ensure compliance with International Standardization Organization (ISO) standards, local regulations, and guidelines. However, validating such assays can seem trivial as the conditions screened for are rare, and obtaining the samples can be challenging.

This white paper from LGC SeraCare presents data demonstrating that Seraseq reference samples can be run successfully on an NIPT assay from extraction to sequencing, presenting an alternative solution to hard-to-source patient samples, and offering full-process patient-like materials that are compatible with NIPT platforms.

The human gut microbiome plays an important role in human health and various diseases, including many with no existing obvious correlations with the gut microbiome. Interest in using high-throughput DNA sequencing techniques to study the human gut microbiome has grown exponentially across many sectors, from academia to industry to the government.

This white paper from Zymo Research uses real-world examples to discuss important considerations for building a shotgun metagenomics workflow for microbiome profiling, including microbiome quality control, sample collection and preservation, DNA extraction, library preparation, sequencing, and analysis.

When analyzing targeted microbiome sequencing, a different approach to determining the origin of the sequence is required than typical alignment-based methods. This is because the gene of origin for an amplified target gene is already known, and the goal is to determine its taxonomic origin based on a small number of variations relative to similar taxa. In the context of whole-genome sequencing, a small number of single nucleotide variants (SNVs) caused by sequencer error are unlikely to seriously confound an aligner and will have little effect on the final attribution of the sequence. Targeted sequencing, with comparison of multiple similar sequences rather than alignment across multiple genomes, has the potential to be confounded by erroneous SNVs.

This white paper from Zymo Research reviews the relative advantages and disadvantages of two strategies for minimizing the effects of targeted sequencing error in microbiome informatics, which has the potential to be confounded by erroneous SNVs, resulting in the detection of an incorrect organism or the false discovery of a new organism.

Since the beginning of the microbiome era decades ago, 16S rRNA gene-based amplicon sequencing has been widely adopted for microbial composition profiling. Many researchers might assume the 16S sequencing workflow is now well-optimized, and selecting a heavily-cited protocol is trivial. However, there are aspects and challenges in 16S sequencing that should be considered before adopting a protocol.

This white paper from Zymo Research outlines challenges in 16S rRNA sequencing to be considered when adopting a library preparation protocol, including selecting a hypervariable region, controlling PCR chimera formation, and normalization, and describes how the Quick-16S Plus NGS Library Prep Kit addresses those challenges.

This infographic from BioLegend illustrates and explains the structure and functional elements of the SARS-CoV-2 virus, its interactions with target cells, and the immune response to infection, highlighting reagents that can be used to investigate each stage of infection for diagnostic, treatment, or vaccine development.

Cell-free (cf)DNA screening of pregnancies (also known as non-invasive prenatal testing or NIPT) is a transformative technology that is becoming routine for all pregnancies. Laboratories are potentially faced with adding a new technological approach in order to add NIPT to their repertoire of assays. Laboratories may choose from whole-genome NGS methods or more targeted methods. Furthermore, there are evolving regulatory requirements, a lack of test standardization around the world, and few validation studies targeting rare disorders. Clinical laboratory directors also need to anticipate the complexities of interpreting results from an inconclusive finding or disentangling biological considerations such as placental mosaicism from analytical performance considerations. However, NIPT is still a screening test, and thus confirmation by amniocentesis or chorionic villus sampling and diagnostic testing is required.

In this webinar, expert panelists, Jillian Buchan, PhD FACMG; Glenn Palomaki, PhD; Kaarel Krjutškov, PhD; and Russell Garlick, PhD will discuss recent experiences adopting NIPT testing for routine use, designing and executing complex validation studies, and interpreting unexpected results.

This white paper from Aptean describes common limitations and pitfalls of searching intellectual property databases for biological sequences — often done during the patent application process or to establish freedom to operate on a sequence.

If you’re looking to protect your own sequences or want to make sure you’re not infringing on anyone else’s IP, you need to review what’s already out there.

Anyone who’s done an IP sequence search before can tell you it’s not an easy thing to get right. The biggest challenge in IP sequence searching is finding a reliable, complete, and up-to-date source of patent information.

Check out this white paper to learn more about:

• The importance of protecting your data through a private network
• GenePAST, state-of-the-art algorithm and why so many companies are using it over BLAST

Tumor mutational burden, as measured by exome or panel sequencing of tumor tissue (tTMB) or blood (bTMB), has been identified as a potential predictive biomarker for treatment benefit in patients with various cancer types receiving immunotherapy targeting checkpoint pathways. However, significant variability in TMB measurement has been reported due to differences in preanalytical and laboratory methods, panel size, number of genes covered, and bioinformatics pipelines. Reference standards have been proposed and evaluated for tTMB analysis by the Friends of Cancer Research TMB Harmonization Consortium to enable standardization across different NGS panel providers and to determine the correlation of panel-TMB scores with WES-TMB scores. Reference standards for bTMB may be even more important given the unique challenges and higher sensitivity required for bTMB assays.

This datasheet from LGC SeraCare provides details about the blood TMB assessments for Seraseq Blood TMB Mix Score 7, 13, 20, 26 reference materials as determined using the TruSight Oncology 500 ctDNA panel.

Find the accompanying poster for this data sheet from SeraCare here.

In this on-demand webinar from GenomOncology, Chief Technology Officer Ian Maurer and Director of Product Management James Cole discuss:

• The impacts, benefits, and technical requirements of a model precision oncology program.
• How GenomOncology’s precision oncology solutions support precision oncology programs by providing clinicians access to up-to-date precision oncology information, integrating with institution systems, and presenting relevant data that can be utilized to improve patient outcomes.
• The several ways numerous institutions have utilized GenomOncology to enhance their precision oncology programs to streamline their data enablement, improve their overall decision support, and enhance their insights and analytics to improve their overall patient cancer care.

Advances in precision medicine are not currently available to all patients, especially those being treated in community cancer settings. This growing gap is challenging community health­care systems to provide cost-effective, scalable, and innovative solutions for underserved patients.

This case study from Qiagen discusses how Protean BioDiagnostics partnered with Qiagen Digital Insights to develop a proprietary, multiomic, datacentric diagnostic guidance system to deploy whole-exome sequencing into clinical practice and give oncologists and practitioners access to the latest evidence-based diagnostics, therapeutics, and new clinical trials.

This white paper from Qiagen examines evidence comparing the quality of Stanford University’s Automatic Variant evidence Database (AVADA) to the manually curated Human Gene Mutation Database (HGMD) for variant annotation in clinical genomics.

Due to the sporadic nature of somatic cancers, the number of detected variants is growing, challenging scientists to confidently identify meaningful mutations that could influence or improve decisions in experimental design, at the point of care, or in drug development. The Human Somatic Mutation Database (HSMD) is a new somatic database developed by Qiagen that contains extensive genomic content relevant to solid tumors and hematological malignancies. Available as a web-based application, this expert-curated resource contains content from over 300,000 real-world clinical oncology cases combined with content from the Qiagen Knowledge Base, providing gene-level, alteration-level, and disease-level information including clinically observed gene and variant frequencies across diseases.

Piezo stages are a unique class of actuators that can be a valuable tool in digital microscopy, though they can suffer issues of high cost with limited travel, speeds, and bandwidth. In this video from Dover Motion, Chief Technology Officer Kevin McCarthy explores different piezo actuator technologies and contrasts them to linear motor stages.