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White Papers and Videos

Genetic Classification of Acute Lymphoblastic Leukemia (ALL): RNA Sequencing as an Emerging Clinical Diagnostic Tool

White Paper

Acute lymphoblastic leukemia (ALL) is a highly heterogenous disease characterized by different genetic alterations of critical importance for a correct clinical diagnosis, disease stratification, disease follow-up, and treatment selection.

ALLs are characterized by gene fusions or display a distinct gene expression signature that can

be used for classification purposes. In this context, RNA-sequencing is becoming an increasingly important diagnostic tool as it can detect gene fusions in an unbiased manner and aid the subtype classification based on distinct gene expression signatures.

This white paper from Qlucore outlines the benefits of RNA-seq for classifying ALL as well as strategies for analyzing RNA-seq data in this context.

Lyobead Technology in the Diagnostics and Pharma Sectors: Why, How, What?

White Paper

Biological reagents are particularly sensitive to changes in temperature and require specific storage conditions to remain bioactive in the long term. Dehydrating the reagents reduces this sensitivity and is the main driver for the growing lyophilized bead technology in both the diagnostic and pharmaceutical industries.

This technical note from SP Scientific summarizes a webinar in which Mattia Cassanelli, Technical Business Manager at Biopharma Group, UK, discussed the use of lyophilized bead technology to stabilize biological reagents for long-term, room-temperature storage in the diagnostic and pharmaceutical sectors.

Identifying a Clinically Relevant Intronic Variant With New CentoXome

White Paper

This whitepaper from Centogene presents a case study in which a physician employed the New CentoXome whole-exome sequencing test to diagnose autosomal dominant neurofibromatosis type 1 in a 14-year-old patient.

Basic and Intermediate Quality Control Systems: Enhancing the Knowledge and Performance in Your Laboratory

White Paper

This whitepaper from Bio-Rad summarizes systems, practices, and statistics used for quality control (QC) of diagnostic tests in medical laboratories, including information on how often controls should be run, how to calculate basic QC statistics, and optional QC protocols.

How to Qualify a Bulk Enzyme Supplier for Your Commercial Molecular Assays


This on-demand webinar from Qiagen discusses the challenges molecular assay manufacturers face when deciding to purchase OEM bulk components, such as enzymes. Susanne Schlemm, director of marketing at OEM by Qiagen describes how to qualify a supplier for a long-term partnership to consolidate your supply chain, and she reviews considerations such as development capabilities, customization, confidentiality, quality, scaling, and consistency. Schlemm discusses how to ensure criteria for formulation, quantities, compliance, and timelines are met, as well as actual projects and processes for enzyme customization and bulk production. 

Analyzing Complex Variants in Clinical NGS Data

White Paper

Molecular profiling and characterization of mutations in cancer tissue have increasingly become a standard of care. Next-generation sequencing technologies facilitate the accurate detection of genetic variants, yet the process of analyzing and classifying more complex alterations remains challenging and time-consuming. Cancer samples are often a mix of different types of cells from the tumor microenvironment; clinical intervention prior to tissue collection may lead to a non-ideal quality sample being used for sequencing. Also, the multitude of clonal populations of cells present in a somatic tumor affects the variant allele frequency of the variant of interest. To identify and interpret complex variants, users often require more insight and in-depth understanding of the processes involved. Sometimes, interpreting these complex variants also requires recognition of the sequencing chemistry and the type of sequencer used.

This whitepaper from PierianDx discusses considerations for interpreting and reporting five different types of complex genetic variants in the context of somatic cancer: co-occurring variants, exon-skipping splice variants, gene fusions, copy number variants, and tumor mutation burden, and microsatellite instability.

Counselling for NIPS/NIPT: Five Things you Need to Know


In this on-demand GenomeWebinar, Katie Ellis, senior genetic counselor at Genea in Australia, discusses important issues to consider when ordering non-invasive prenatal screening — blood tests from the mother to reveal information from circulating cell-free DNA from the placenta. The topics Ellis discusses include patient preferences, technology platforms, test limitations, and the implications of inconclusive results.

Reporting NGS Sequencing Data in Clinical Practice

White Paper

This application note from Qiagen describes generating inherited cancer NGS sequencing reports for clinicians and treating oncologists using the clinical decision support software, QCI Interpret, highlighting variant annotation, report customization, and handling variants of unknown significance.

Saliva Samples for COVID-19 Testing

White Paper

While sample collection efforts for COVID-19 initially focused on the use of nasopharyngeal swabs requiring trained personnel and an invasive procedure, sample collection has expanded to include self-collected saliva. In 2020, the U.S. Food and Drug Administration authorized the use of DNA Genotek's Omnigene Oral saliva collection and stabilization kits as part of a COVID-19 test kit.

This whitepaper from DNA Genotek presents use cases of the Omnigene Oral for COVID-19 diagnostic testing, including adoption in the UK for the country’s Test to Release for International Travel program.

Considerations When Ordering Non-Invasive Prenatal Screening

White Paper

This white paper is based on a webinar presentation by Katie Ellis, senior genetic counselor at Genea in Australia, who discussed important issues to consider when ordering non-invasive prenatal screening — blood tests from the mother to reveal information from circulating cell-free DNA from the placenta. The topics Ellis discussed include patient preferences, technology platforms, test limitations, and the implications of inconclusive results.

Quantifying the Impact of Pipette Tip Type Using Dual Dye Ratiometric Technology

White Paper

The type, characteristics, and quality of disposable pipette tips can directly affect the volume transferred to and from an assay, regardless of operator skill or type of pipette employed. This application note from Artel describes the use of a dual-dye photometric technology to correlate the accuracy and repeatability of volume transfers with the disposable pipette tips employed, allowing users to screen and select the appropriate tip types for their liquid handlers, pipettes, and assays.

Pipetting Viscous Solutions – Best Practices

White Paper

This reference poster from Artel describes best practices for pipetting viscous solutions including using positive displacement for methods or reverse mode pipetting.

Artel Lab Reports

White Paper

This ebook from Artel contains a series of publications that provide technical information regarding the use, application, and metrology related to liquid handling instrumentation, including practices for pipette calibration, pipetting technique, and pipette use ergonomics.

Troubleshooting Automation

White Paper

This reference poster from Artel describes how to troubleshoot problems with automated assays, including how to inspect laboratory instruments, consumables, reagents, and other factors that may be causing issues in data.

HPV-Based Cervical Cancer Screening: Gaining Insights in Sample Preference and Cost-Effectiveness

White Paper

Cervical cancer can be prevented through vaccination and screening, but it remains the fourth most common cancer type in women, with over 500,000 cases detected in 2018. Most cases of cervical cancer are linked to types of high-risk human papillomavirus (HPV), a common sexually transmitted infection. Regular screening for cervical cancer with pap smears improves incidence and mortality rates, but many women are reluctant to undergo a pap smear due to the invasiveness of cervical sampling, cultural reasons, lack of time, and the need to visit a clinician.

This whitepaper from Novosanis reviews studies examining patient preferences and the cost-effectiveness of self-sampling methods for HPV-based cervical cancer screening, highlighting the potential of Colli-Pee — a self-sampling urine-capturing device that collects the first 20 ml of urine flow.