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White Papers and Videos

Learn How Patient-Like Seraseq NIPT Reference Materials Perform on a Leading Platform

White Paper

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.

OEM by Qiagen Advancing with Asian Molecular Diagnostic Companies

White Paper

In this interview excerpt from Qiagen, Vice President and Head of OEM Kay Koerner discusses the volatility that molecular diagnostics manufacturers faced with their supply chain during the COVID-19 pandemic, how the pandemic affected the OEM business, developing trends in life sciences, and how the diagnostics market is evolving in the APAC region.

Using Whole-Exome Sequencing to Guide Clinical Trial Enrollment for Patients with Cancer

White Paper

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.

Manual Curation vs. Artificial Intelligence: Can Automated Variant Evidence Retrieval Replace Human Judgment?

White Paper

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.

Get the Most out of Seraseq Reproductive Health Reference Materials

White Paper

This application note from LGC SeraCare demonstrates how to use Seraseq Reproductive Health Reference Materials in pre-implantation genetic testing for aneuploidies (PGT-A) and non-invasive prenatal testing (NIPT) to compare methods, compare workflows, and train staff.

Development of a Novel Reference Material for Minimal Residual Disease Monitoring Assays

White Paper

ctDNA-based assays allow for the detection of minimal residual disease (MRD) earlier than standard clinical and imaging surveillance and could allow for treatment modification based on real-time assessment of the tumor genomic landscape. However, many challenges remain, as the analytical validation of liquid biopsy-based MRD assays requires reference materials allowing for the assessment of sensitivity and specificity at variant allele frequencies (VAFs) that can be over an order of magnitude below the typical limit of detection of standard ctDNA assays. At such low VAFs, there may be, on average, less than one copy of a somatic variant in a sample being analyzed out of billions of ctDNA fragments in a blood draw. This problem is why many MRD approaches use whole-exome sequencing data from patient tumors to design tumor-informed, personalized assays that target multiple patient-specific somatic variants, which reduces the amount of sequencing required to survey MRD while allowing the sequencing depth around the targeted variants to reach a level that is sufficient for high sensitivity and specificity.

This white paper from LGC SeraCare describes the creation of a reference material combining a tumor-derived component with a sufficiently large number of somatic mutations to accommodate the development, validation, and clinical deployment of custom, tumor-informed, ctDNA-based MRD monitoring assays.

New CentoXome: Turning Our Expertise into Your Advantage

Video

In this on-demand webinar from Centogene, Aida M. Bertoli-Avella, head of research data analysis, and Jorge Pinto Basto, senior medical director at Centogene, outline the main challenges of rare disease diagnostics, highlight the features of the New CentoXome whole-exome sequencing test, and describe successes of the test in clinical cases.

Unraveling a Clinically Relevant Uniparental Disomy 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 osteopetrosis type 4 caused by uniparental disomy in a 6-month-old patient.

ARUP Laboratories Reduces Turnaround Time on Panel Analysis by 30 Percent with GenomOncology

White Paper

The GenomOncology (GO) Precision Oncology API Suite extends the knowledge of GenomOncology’s Precision Oncology Platform by integrating directly with in-house systems and workflows, providing users an extensive database of annotations and treatment options that can be utilized to enhance patient care. The GO Precision Oncology API Suite is utilized at numerous institutions across the United States, including the CAP-, ISO 15189-, and CLIA-certified diagnostic lab, ARUP Laboratories (ARUP).

Interested in learning more about how ARUP utilizes GenomOncology’s precision oncology solutions? Then read our latest case study to gain insight into how:

  • ARUP selected and implemented the GO Precision Oncology API Suite in 2019 due to the depth of annotation sources within the solution, its overall flexibility, and its ability to be easily integrated into ARUP’s current workflows and processes. 
  • ARUP reduced its turnaround time on panel analysis and variant annotation by nearly 30%, enabling its Clinical Variant Scientist team to analyze more cases and spend less time documenting variant classification information. 
  • ARUP has chosen to extend its use of the GO Precision Oncology Suite by integrating the GO Clinical Trial and Therapy Matching APIs into its current workflows to strengthen its patient care offerings.

The Benefits of PGT-A, PGT-M, and Expanded Carrier Screening in IVF Research

Video

In this webinar from Thermo Fisher Scientific, Murat Çetinkaya and Volkan Baltaci discuss the advantages of preimplantation genetic testing for aneuploidy (PGT-A), testing for monogenetic/single-gene disorders (PGT-M), and carrier screening in in vitro fertilization (IVF) research, as well as molecular technologies improving workflows in IVF and how IVF research labs are benefiting from advanced NGS technologies.

The Increasing Use of Carrier Screening in Fertility Clinics

Video

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 discusses probabilities of genetic variants, the benefits and challenges of carrier screening and screening technologies, why screening is advantageous in family planning, who should be offered screening, and what should be screened for.

Expanded Carrier Screening: A General Overview

Video

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

Video

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.