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White Papers and Videos

Expanded Carrier Screening: A General Overview


Genetic disorders previously associated with specific ethnic groups now occur at increasing frequency in broader populations. Based on assumptions about prevalence, traditional carrier screening only targets single gene disorders according to ancestry or family history and may not accurately reflect changing frequencies. Expanded carrier screening (ECS) by next-generation sequencing (NGS) enables rapid carrier screening research and genetic analysis across a broader range of disorders, crossing ancestries and geographic regions with an accurate, scalable, cost-effective solution.

This on-demand webinar from Thermo Fisher Scientific reviews the benefits of ECS, presents Mayo Clinic case studies illustrating the capabilities and complexities of ECS, and discusses guidelines to consider in developing ECS content.

Making the Case for Expanded Carrier Screening for Inheritable Genetic Disorders


Advances in DNA sequencing technology have dramatically enhanced our ability to perform more comprehensive genetic risk assessments. Carrier screening protocols for the detection of serious and prevalent inheritable disorders have seen significant evidence-based advances but have experienced slow adoption, limited primarily by education of pregnant women and providers.  

Population demographics and variability in population ethnicity have redefined a couple’s risk for many inheritable autosomal recessive disorders. Advances like next-generation sequencing and sophisticated bioinformatics pipelines have provided insight into carrier frequencies in more diverse populations and identified the gaps that are created by current guidelines.

This GenomeWebinar sponsored by Thermo Fisher Scientific presents cases that highlight the benefits of expanded carrier screening research for lesser-known inheritable conditions.

Join Dr. Haywood Brown in this webinar to learn about:

  • The evolution of expanded carrier screening  
  • Current guidelines and their role 
  • Cases highlighting the power of expanded carrier screening  

Identifying a Clinically Relevant Mitochondrial Variant With NEW CentoXome

White Paper

This white paper from Centogene presents a case study in which a physician employed the New CentoXome whole-exome sequencing test to diagnose mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) in a 20-year-old patient.

Seven Tips to Maximize RT-qPCR Success for SARS-CoV-2 Detection

White Paper

This guide from LGC outlines elaborates on tips to get reliable, consistent data from RT-qPCR assays for SARS-CoV-2 detection, including how to maintain sample integrity, build resilience into RNA extraction workflows, and mitigate the effects of viral mutations.

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.

Genomic Surveillance of SARS-CoV-2 with Celero EZ DNA-Seq

White Paper

The ARTIC SARS-CoV-2 primer set, available from any oligo supplier, has become the standard for SARS-CoV-2 whole-genome sequencing. This application note from Tecan describes the coupling of cDNA amplicon creation using the ARTIC primer set with the Celero EZ library prep kit to create a single protocol that can go from extracted RNA to final sequence data in 24 hours for streamlined variant analysis. The ARTIC Celero EZ protocol is also fully automation-ready via DreamPrep or other liquid handlers for use in higher throughput applications. For Research Use Only. Not for use in diagnostic procedures.

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.