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GenomeWebinars

Chief Technology Officer,
Karius

Genomics Bioinformaticist,
Amazon Web Services

The discovery of microbial cell-free DNA has propelled the introduction of new technologies that can be leveraged for next-generation diagnostic assays. Previously inaccessible genomic information can now be comprehensively surveyed for microorganisms, all from a single blood draw.

This webinar will outline how infectious disease testing firm Karius analyzes microbial cell-free DNA data through novel computational methods optimized for cloud scalability on AWS.

Sivan Bercovici of Karius will share how his team addresses the challenge of accuracy of genomic reference data, as well as the complexities that arise from the convoluted and highly homologous microbial signal. This capability offers the promise to fill gaps in current diagnostic methods, to empower physicians to more effectively detect and diagnose infectious disease, and to monitor the effectiveness of treatment.  

*This webinar will be pre-recorded.  You may submit questions for our speakers on the registration page.

Sponsored by
Tue
Dec
10
11:00 am2019
Sponsored by
Congenica II

Maximizing Diagnostic Yield with an Optimized Variant Interpretation Platform

Genome Webinar

Postdoctoral Researcher,
Royal College of Surgeons Ireland (RCSI)

This webinar will discuss the use of next-generation sequencing and an optimized variant interpretation workflow to increase diagnostic yield in complex clinical cases.

Using specific case examples as illustrations, Dr. Katherine Benson of the Royal College of Surgeons Ireland will discuss how her team has implemented an all-in-one solution for the analysis and interpretation of sequencing results in the epilepsy clinic. She will detail how this approach has increased diagnostic yield across all cohorts in a national epilepsy genomics project.

This webinar is a must-see for anyone working to optimize the diagnosis of complex clinical cases and improve patient outcomes in rare and inherited diseases.

In this webinar you will learn how to:

  • Increase efficiency of NGS data analysis and interpretation
  • Improve diagnostic yield in complex clinical cases
  • Provide faster, more accurate answers for patients
Sponsored by

Pathologist,
Moffitt Cancer Center

This webinar will discuss how Moffitt Cancer Center has implemented a new capture-based application to accurately assess myeloid malignancies by detecting complex variants in challenging genes in a single experiment.  

Molecular profiling by next-generation sequencing (NGS) of myeloid tumors has become a routine part of disease management. One of the difficulties and limitations of NGS technology has historically been the inability to reliably detect mutations in certain GC-rich gene regions (such as the CEBPA gene) and insertions/deletions in genes such as FLT3, NPM1, and CALR. 

Many labs have circumvented these limitations by performing parallel orthogonal testing, which is redundant, costly, and inefficient. Furthermore, in late 2018, the US Food and Drug Administration approved a targeted therapy for FLT3-mutated acute myeloid leukemia, making accurate and reproducible mutation detection of paramount importance for guiding treatment.

In this webinar, Dr. Mohammad Hussaini of the Moffitt Cancer Center will discuss development of a comprehensive solution that captures 98 genes noted to be of importance in myeloid disease. In particular, he will describe:     

  • The process of evaluating and implementing this new capture-based NGS solution 
  • The accurate detection of challenging genes such as FLT3, CALR, and CEBPA 
  • The global analytical performance of this solution
Sponsored by
Recent GenomeWebinars

Research Technician, Jan Ellenberg Lab, European Molecular Biology Laboratory

Research Technician,  Jan Ellenberg Lab, European Molecular Biology Laboratory

Fluorescent proteins or self-labeling tags are invaluable tools for studying protein dynamics in living cells using fluorescence microscopy. However, quantitative imaging requires physiological levels of expression of the target protein of interest (POI), especially when stoichiometric interactions of the POI need to be investigated.

CRISPR has enabled researchers to tag virtually any target gene of interest, resulting in physiological levels of expression of the corresponding POI. However, the generation and selection of cellular clones bearing the correct edit — that is, the expected number of tagged alleles and an absence of extra integrations — requires quantitative assessment of the tag copy number.

This webinar will describe the use of dPCR as a quick method for quantitation of green fluorescent protein copy number in CRISPR-edited HeLa cells. The discussion will also include an introduction to dPCR working principles and post-acquisition data analysis methods.

Thu
Nov
7
2:00 pm2019
Sponsored by
Beckman Coulter

Maximizing Productivity in Urinary Tract Infection Testing

Genome Webinar

Head of Pathology Department, Quality Manager,
Sampurna Sodani Diagnostic Clinic

This webinar will discuss strategies for urinary tract infection (UTI) testing with the focus of detecting avoidable urine cultures.

UTIs are the most common infection leading to an antibiotic prescription after a physician’s visit. The appropriate use of antibiotics for patients that are correctly diagnosed with UTI will foster antimicrobial stewardship. The excessive use of antibiotics is one of the contributing factors to antibiotic-resistant bacteria, which have become a global public health concern.

Microbiology laboratories urgently need rapid screening methods for the detection of bacteria in urine samples, since several clinical studies have indicated that about two-thirds of these samples will not yield any bacteria or will yield insignificant growth when cultured.

Join Dr. Ranjana Hawaldar of Sampurna Sodani Diagnostic Clinic to:

  • Discuss how UTIs impact healthcare settings and laboratory workloads
  • Review current alternatives for UTI testing
  • Assess the relevant factors associated with urine culture candidate screening
  • Propose strategies to introduce a urine culture candidate screening process in the laboratory to avoid unnecessary urine cultures

P.A.C.E. credit is available for your participation.*

*Beckman Coulter Inc. is approved as a provider of continuing education programs in the clinical laboratory sciences by the ASCLS P.A.C.E.® Program. These credits are recognized by the State of California. Most programs also provide State of Florida credits (with valid license number). At this time, we cannot issue continuing education credits for those who provide healthcare (or work for an institution that provides healthcare) in Massachusetts or Vermont.

Sponsored by

Associate Laboratory Director,
Versiti (formerly Blood Center of Wisconsin)

This webinar tells the story of Versiti's journey in transforming genetic testing from a manual to a digitized process. It includes detail on how the organization succeeded, pain points along the way, a novel approach to variant assessment, and future plans for the program.

Versiti (formerly Blood Center of Wisconsin) specializes in a wide range of services, including esoteric diagnostic testing, such as immunology, hematology, oncology, and serology.

In this session, Dr. Valerie Trapp-Stamborski covers:

  • Bringing genetic testing onto a technical platform for improved efficiency, analysis, and reporting.
  • The anatomy of a novel variant assessment tool that is used to classify and assess variants of uncertain significance.
  • The organization's efforts around integrated reporting for improved diagnostic insights.

Lead Scientist,
University of Arizona Genetics Core for Clinical Services

This webinar will discuss a multigene approach to personalizing treatments for high blood pressure.

Although pharmacogenetic testing has become more widely adopted, providing patients with more genetically informed therapies, the vast majority of currently available clinical PGx testing focuses on genes involved in drug metabolism and transport. While these drug-metabolizing enzyme panels are important, there is evidence that in highly multifactorial diseases such as hypertension there are other genetic factors that strongly affect a patient’s response to therapies.

In this webinar, Dr. Ryan Sprissler of Geneticure will discuss a study examining these genetic determinants of hypertension therapy response that has shown that common and functional genetic variation plays a role in the variability of treatment effectiveness and may modulate the bell-curve response to many therapies.

Dr. Sprissler will share details on how these factors and subsequent trial data have led to the development of a multiplexed panel using a weighted algorithm to ultimately better predict individual therapy response.

Pathology Department and Cancer Research Division,
Peter MacCallum Cancer Centre, Melbourne, Australia

This webinar will provide an overview of how a pathology laboratory validated a 77-gene next-generation sequencing-based liquid biopsy assay.

Liquid biopsy provides a minimally invasive alternative to tissue biopsy for diagnosis, treatment selection, and monitoring of solid cancers. Liquid biopsy, especially the detection of molecular biomarkers from circulating tumor DNA (ctDNA), has evolved from single biomarker to multi-biomarker measurement with the application of NGS technologies, an advance that promises to improve clinical sensitivity — particularly for the detection of disease relapse and treatment resistance.

To date, the ctDNA-NGS space has been dominated by well resourced commercial providers offering accredited services based on laboratory developed tests. This webinar will describe how the Pathology Department at Australia's Peter MacCallum Cancer Centre is looking to bring this capability in house. Peter Mac's Andrew Fellowes will describe the analytical performance of the Avenio ctDNA Expanded Kit* in a cancer hospital pathology laboratory.

The Avenio ctDNA Expanded Kit* is a commercially available research use only kit based on Cancer Personalized Profiling by Deep Sequencing (CAPP-Seq) that promises to accelerate the uptake of liquid biopsy for clinical research of solid cancers in the clinical laboratory setting.

*For Research Use only, not for use in diagnostic procedures.

Postdoctoral Researcher,
Max Delbrück Center for Molecular Medicine 

In this webinar, Ngoc-Tung Tran, Postdoctoral Researcher at the Max Delbrück Center for Molecular Medicine, will provide a general introduction of the CRISPR/Cas9 system. He will summarize the current approaches to enhanced homology-directed repair for precise gene editing. Regarding gene therapy applications, he will point out the differences between precise gene editing by CRISPR/Cas9 and gene delivery by viruses. He will also discuss the potential limitations of CRISPR/Cas9 for clinical applications as well as the current status of solving these limitations.

The webinar will include an example of gene correction using CRISPR/Cas9 in his lab. Specifically, he will discuss ELANE mutation correction in patient-derived hematopoietic stem cells, and the potential of this approach as a potential gene therapy for severe congenital neutropenia.

Director, Molecular Diagnostics Lab; Professor Pathology; Chair of Molecular Diagnostics Division
Virginia Commonwealth University Health System

This webinar discusses a next-generation sequencing approach for detecting genomic mutations in hematologic maglignancies.

Join Dr. Andrea Ferreira-Gonzalez, Professor of Pathology and Chair of Molecular Diagnostics Division at Virginia Commonwealth University Health System, to learn about the role of genomic testing in hematology.

Dr. Ferreira-Gonzalez introduces the different hematological disease states, their biology, and driver mutations. She provides an overview and background about the role these mutations play in blood cancers and the steps taken for the validation and implementation of a clinical assay for hematological malignancies using RNA and DNA as detection methods for NGS.

Sponsored by
Wed
Jul
31
11:00 am2019
Sponsored by
Thermo Fisher Scientific

Considerations and Impact of Implementing Targeted NGS in Myeloid Malignancies

Genome Webinar

Head, Division of Genetics Department of Lab Medicine and Pathology,
Saint John Regional Hospital

This webinar provides a first-hand look at how a molecular laboratory validated and implemented a targeted next-generation sequencing-based myeloid assay to expedite the assessment of myeloid malignancies and assist in the understanding of myeloid cancers.

The most recent version of the World Health Organization classification system for myeloid neoplasms and acute leukemia, published in 2016, added a number of important biomarkers and genetic alterations for the assessment of myeloid malignancies. As the list of relevant molecular markers continues to grow and new targeted therapies are approved, traditional, single-gene approaches for analyzing myeloid malignancies have become laborious and time consuming. Next-generation sequencing has emerged as the optimal solution by enabling comprehensive assessment of all relevant molecular markers in a single NGS run.

In this webinar, Dr. Nancy Carson, Head of the Division of Genetics at the Saint John Regional Hospital, discusses her team’s experiences as one of the first labs in Canada to implement an NGS-based myeloid assay.

Dr. Carson discusses:

  • Unique considerations and applications of NGS in myeloid malignancies
  • Overview of her experience with with analytical validation and implementation of the assay
  • Impact of the implementation of the assay to date through case studies
  • Future directions
Sponsored by

Professor Genetics KU Leuven, Group Leader VIB, Leuven, Belgium

Postdoctoral Researcher, VIB-KU Leuven, Belgium

This webinar outlines a project that performs large-scale and integrative single-cell genome and transcriptome profiling of pediatric acute lymphoblastic leukemia (ALL) cases at diagnosis, during drug treatment, and in case of relapse.

ALL is the most common cancer in children and shows extensive genetic intra-tumoral heterogeneity. This heterogeneity may be the underlying reason for an incomplete response to treatment and for the development of relapse.

Data from this study provides information about the sensitivity of each leukemia clone to therapy and about how relapse can develop. Moreover, the results point toward the feasibility to detect minor clinically relevant leukemia clones at diagnosis or during early days of treatment in ALL.

The main focus of this webinar is:

  • Introduction of the Tapestri Platform from Mission Bio for targeted single-cell DNA sequencing
  • Presentation of a novel custom panel covering the 300 most mutated genomic regions in ALL
  • Insights into the clonal architecture of pediatric T-ALL, lessons learned from the first 16 samples processed with this custom ALL panel
Sponsored by

Director of Fetal Medicine,
Harris Birthright Research Center for Fetal Medicine,
King's College Hospital

This webinar discusses the evolution of fetal aneuploidy screening and the most recent evidence around the implementation of prenatal cell-free DNA testing in clinical practice.

Non-invasive prenatal testing (NIPT) by cell-free DNA testing has rapidly become an integral part of clinical care, and clinical studies demonstrating its high accuracy for trisomy 21 are familiar to most obstetric providers.

In this webinar, Kypros Nicolaides, Professor and Director of Fetal Medicine at King’s College, London, reviews the most recent evidence demonstrating the clinical value of cell-free DNA testing in prenatal care, discuss different implementation models, and share his own experience with cell-free DNA testing for fetal aneuploidy. He also discusses the patient perspective and how different factors may influence the choices and preferences of pregnant women for prenatal care.

Tue
Jul
23
1:00 pm2019
Sponsored by
Qiagen: Nov 16, 2014

A Novel Quality Improvement Model to Support Molecular Testing of Oncology Patients

Genome Webinar
Dr. Yaolin Zhou discusses Quality Improvement Model to Support Molecular Testing of Oncology Patients

Director of Molecular Pathology,
University of Oklahoma Health Sciences Center (OUHSC)

This webinar discusses how the Molecular Pathology Laboratory at the University of Oklahoma (OUMP) is using a new quality improvement model to support molecular testing of oncology patients. 

The oncology landscape is rapidly evolving due to new biomarker discoveries and targeted treatments. Biomarker testing is ideally performed in on-site molecular diagnostic laboratories to facilitate local communication and promote multidisciplinary collaboration.

However, assay implementation and incorporation is complex and full of potential pitfalls. Due to the costs and challenges associated with offering new molecular tests, labs need to take additional steps to ensure that the healthcare provided is effective, efficient, patient-centered, safe, and timely.

In this webinar, OUMP's Yaolin Zhou discusses how her lab approaches molecular testing as a quality improvement initiative. She presents the EPIDEM model of quality improvement, which stands for Exploration, Promotion, Implementation, Documentation, Evaluation, and Modification.

Dr. Zhou reviews specific applications of the EPIDEM model to improve molecular testing of leukemia, breast cancer, and melanoma patients and will also share OUMP’s approach to next generation sequencing using Qiagen's GeneReader NGS System.

Sponsored by
Thu
Jul
18
2:00 pm2019
Sponsored by
Thermo Fisher Scientific

Laboratory Stewardship: Improving Healthcare Delivery Amid a Changing Clinical Lab Environment

Genome Webinar

Senior Healthcare Consultant,
ARUP Laboratories

This webinar explores the concept of laboratory stewardship as a way of viewing and improving healthcare delivery, through the consistent and persistent search for ways to increase testing efficiency and effectiveness, decrease waste, and therefore improve patient care quality. 

The old model for clinical laboratory testing focused largely on a fee-for-service reimbursement environment, where additional volume always translated to additional revenue, and tests were relatively inexpensive. Many laboratorians exerted little influence on provider test utilization practices and opted to simply perform whatever tests the provider ordered, whenever they were ordered. As a result, and not surprisingly, patterns of overutilization, underutilization, and mis-utilization of tests emerged and persisted.

This presentation supports a new model of laboratory service delivery, where laboratory leaders assume new roles of greater involvement and influence in the selection and performance of tests, as part of a collaborative team effort that crosses departmental boundaries. This concept and process has been referred to in recent literature as “laboratory stewardship” and has been the basis for significant patient care improvements in many laboratories. It fits perfectly within the new environment of accountable care organizations, rapid growth of expensive genetic tests, and the ongoing desperate attempts to control healthcare costs. It also fits well with efforts to improve lab testing efficiency and productivity, through the careful selection of QC materials and testing platforms.

This webinar demonstrates, through example and case study, several ways most laboratories, organizations, and patients can benefit greatly from the laboratory stewardship approach. It will emphasize the need to adopt a collaborative proactive approach to healthcare delivery, recognizing that the clinical laboratory is positioned uniquely to exercise considerable positive influence to this effort.

Learning Objectives:

  • Understand and be prepared to incorporate the concept of laboratory stewardship as a tool for improving patient care.
  • Review and discuss examples and case studies where stewardship interventions have resulted in significant savings and patient care improvements.
  • Go forward with a commitment to find and act upon stewardship opportunities in your own organization.
Sponsored by

Associate Professor, Pathology & Immunology; Section Head, Hematopathology;
Washington University School of Medicine in St. Louis

Global Product Manager, Genomics and Diagnostics Group,
Agilent Technologies

This webinar focuses on measurable residual disease (MRD) monitoring in post allogeneic hematopoietic cell transplantation (alloHCT) myelodysplastic syndrome (MDS) cases. 

Standard sequencing-based technologies have a limited ability to detect low-abundance mutations due to the inherit error rate of the sequencing technology and pre-analytic errors associated with PCR amplification and sequencing library construction. This approach is generally limited to the detection of mutations with variant allele frequencies (VAFs) of greater than 2.5 percent. 

Our speaker, Eric Duncavage, discusses an approach his team used to address this issue, which used HaloPlex HS error-corrected sequencing coupled with high-coverage depths that allowed them to detect VAFs as low as 0.03%, or one tumor cell in ~1,600 cells. 

Dr. Duncavage’s team applied HaloPlex HS to bone marrows collected prior to and 30 days after transplant in 86 MDS patients by targeting previously identified somatic mutations. They found that 32 of 86 cases (37 percent) had at least one mutation at day 30 post-alloHCT with a maximum mutation VAF greater than 0.5 percent (equivalent to 1 mutant cell in 100 cells).

Dr. Duncavage details the study, which found that cases who progressed had a higher maximum mutation VAF 30 days after transplant compared to those who did not. Multivariate analysis confirmed that the detection of a mutation with a VAF greater than 0.5 percent 30 days after alloHCT was associated with an increased risk of progression and decreased progression-free survival. 

For Research Use Only. Not for use in diagnostic procedures.

Thu
Jun
20
11:00 am2019
Sponsored by
Sophia Genetics

From Manual to Automated Library Prep: Implementation and Analytical Validation

Genome Webinar

Molecular Geneticist,
Medical Genetics Laboratory of Ospedale Pediatrico Bambin Gesù

This webinar will discuss how a clinical lab rapidly implemented a robust automated library preparation workflow that reduces hands-on time and increases sample throughput for a better diagnosis of kidney diseases.

The adoption of next-generation sequencing (NGS) in clinical laboratories has drastically changed the way genomic analyses are performed. With its ability to deliver comprehensive target coverage, NGS technology enables the detection of low-frequency variants and accelerates turnaround times for high sample volumes. But despite the vast improvements in sequencing methods that have decreased bias rates, data analysis can still be impaired by human errors during library preparation. Considering the complexity of the workflow and the elevated number of samples, library preparation remains a time-consuming and resource-intensive process, leaving many laboratories at increased risk of human error.

In this webinar, Dr. Dario Cocciadiferro, molecular geneticist at the Ospedale Pediatrico Bambin Gesù in Rome, will present how his laboratory has reduced sample-to-sample variability by adopting an automated NGS library preparation workflow. In particular, he will describe:

  • The process leading to the automation of the Nephropathies Solution (NES) by Sophia Genetics on the PerkinElmer Sciclone G3 NGS workstation
  • The analytical performance of the automated workflow versus the manual one
  • The application of the automated NES in resolving a complex clinical case  
Sponsored by

Chief Scientific Officer, TOMA Advanced Biomedical Assays, Impact Lab Group  

This webinar discusses cell-free DNA prenatal screening in the era of genome-wide sequencing and factors influencing the clinical utility of expanded noninvasive prenatal testing (NIPT) menus.

NIPT by cell-free DNA analysis is recognized as the most effective method of prenatal screening for trisomies 21, 18 and 13, but the clinical utility of NIPT for rare and uncharacterized genomic imbalances is largely unknown. In order to understand how expanding uses of this technology may impact clinical care, laboratories and clinicians must understand what type of results to expect and the biological and technical factors that may influence the accuracy of these results.

In this webinar, Dr. Francesca Romana Grati of TOMA Advanced Biomedical Assays reviews the current state of NIPT technologies as well as their expanding applications into rare and uncharacterized genomic disorders.

Dr. Grati discusses:

  • Currently available NIPT technologies
  • Differences in genome-wide and targeted NIPT
  • Biological and technical factors that influence the accuracy of NIPT results
  • The clinical impact of screening for rare and uncharacterized genomic imbalances with NIPT
Tue
Jun
18
1:00 pm2019
Sponsored by
ArcherDX

Clinical Genomics of NTRK Fusion Detection in Cancer

Genome Webinar

Associate Director, Laboratory for Molecular Pediatric Pathology; Staff Pathologist, Boston Children's Hospital; Instructor of Pathology, Harvard Medical School

This webinar discusses background and clinical genomics of NTRK fusion detection in cancer. NTRK fusions are the focus of new therapeutic options, but clonal and subclonal lesions are notoriously difficult to detect. This webinar provides an overview and background about the increased role of these fusions, and latest trends in diagnosis, prognosis, and treatment, as well as a research case study on detection.

Join Dr. Alanna Church of the Laboratory for Molecular Pediatric Pathology and Staff Pathologist at Boston Children's Hospital to learn more about the increasing role of NTRK fusions:

  •  Overview and background of fusion mutations, specifically NTRK 1, 2, and 3
  •  Frequency overview and specificity needed for detection
  •  Overview of research case of utilizing NGS technology in detection.
Sponsored by

Director of Genomics and Genome Informatics,
Scripps Research Translational Institute

This webinar will provide an overview of polygenic risk scores, which aggregate dozens of genetic variants that have been linked to disease risk in genome-wide association studies (GWAS) into a single score.

Recently there has been growing interest in polygenic risk scores for predicting disease risk, expanding on the value of large GWAS. Various efforts have begun to demonstrate the utility of polygenic risk profiling to identify groups of individuals who could benefit from the knowledge of their probabilistic susceptibility to disease.

This talk will review the evidence supporting the personal and clinical utility of polygenic risk profiling and how it can be transformative for clinical care as well as drug discovery.

More specifically this webinar will:

• Describe the polygenic basis for common diseases.

• Describe how polygenic risk scores are generated. What are the various strategies?

• The utility of polygenic risk scores from multiple perspectives.

• Discuss “Genotype First” as a framework for the ethical use of genetics.

Test Engineer, Ginkgo Bioworks

Ribosomal ribonucleic acid (rRNA) accounts for up to 99 percent of the total RNA depending on the cell type. Therefore, it’s critical to deplete this highly abundant RNA prior to doing RNA-seq experiments to maximize coverage of target RNA and improve sequencing economy. There are different commercial bead-based rRNA depletion or polyA enrichment kits. However, both methods are inefficient and introduce 3’ biases.  In addition, they are limited to only certain species.

This webinar discusses a species-specific rRNA depletion method that uses the Kapa RNA HyperPrep Kit with RiboErase in combination with customized oligonucleotides. The method enables enrichment of sequencing reads on low-abundance transcripts. In addition to lowering cost by sequencing target RNA, this depletion method generates a more comprehensive transcriptome that retains precursor mRNAs and non-coding RNAs.

Join this webinar to learn:

  • How to generate species-specific rRNA probes for optimal rRNA depletion
  • How to decrease the cost of RNA-seq by enriching for only the RNA that matters
  • How to generate more comprehensive transcriptome data
  • How to generate RNA-seq data from degraded RNA

R&D Manager, ID-Solutions

VP of Commercial Operations, Stilla Technologies

This webinar will outline the entire liquid biopsy workflow from cell-free DNA isolation to mutation detection by Crystal Digital PCR with the Naica System from Stilla Technologies.

Our speakers will focus on detecting EGFR, BRAF, NRAS, and KRAS mutations as well as pediatric and adult cerebral tumor classification panels.

Attendees of this webinar will:

  • Understand the liquid biopsy process for EGFR, BRAF, NRAS, and KRAS mutations;
  • Learn about the benefits of the Crystal Digital PCR platform in combination with research-use-only kits;
  • Hear why digital PCR is a particularly useful technique for the detection of mutations, therapeutic monitoring, and resistance appearance;
  • Learn about the different steps of the liquid biopsy workflow, from DNA isolation to DNA quantification and qualification and DNA genotyping, with dPCR multiplex kits
Tue
May
21
11:00 am2019
Sponsored by
Qiagen: Nov 16, 2014

Implementation of qPCR Mutation Assays for Routine Use in a Hematology/Oncology Lab

Genome Webinar

Senior Specialist Biomedical Scientist, Frontier Pathology

Specialist Biomedical Scientist, Frontier Pathology

Specialist Biomedical Scientist, Frontier Pathology

This webinar will provide a first-hand look at how a hematology/oncology lab in the UK set up and validated three molecular assays for routine in-house use.

Speakers from the Royal Sussex County Hospital (RSCH) laboratory, operated under the Frontier Pathology NHS Partnership, will share their experience implementing two assays for suspected BCR-ABL1-negative myeloproliferative neoplasms.

The RSCH lab has spent the last several years repatriating historical send-away hemato-oncology assays for JAK2 V617F and CALR exon 9. During this webinar, RSCH scientists Munyoro Guvamatanga, Anna Tarasewicz, and Rebecca Lough will share their experiences bringing these assays in-house.

The JAK2 V617F mutation assay was the first to be repatriated in 2015 and is performed using the CE-IVD marked ipsogen JAK2 RGQ PCR kit. More recently, the lab began detecting CALR exon 9 mutations using the CE-IVD marked ipsogen CALR RGQ PCR kit. The assays are performed using gDNA extracted from whole blood samples and subsequent real-time qPCR on the QIAGEN Rotor Gene Q MDx 5Plex HRM platform.

This webinar will describe the experiences and challenges associated with the setup and validation/verification of the assays in the RSCH laboratory.

Sponsored by
Mon
May
20
11:00 am2019
Sponsored by
Qiagen: Nov 16, 2014

Respiratory Viruses: Considerations for Multiplex Testing from the Lab to Point of Care

Genome Webinar

Associate Professor;
Laboratory of Virology, Bichat-Claude Bernard Hospital

This webinar will discuss considerations that labs need to take into account when adopting rapid multiplex PCR testing for respiratory viruses in the clinical setting.

The development of rapid multiplex PCR tests enables the detection of almost all respiratory viruses in a few hours. These tests provide a deeper understanding of respiratory viruses' epidemiology among children or adults, as well as community- or hospital-acquired infections. They also allow clinicians to consider viral etiology to improve isolation management, antibiotic use, or a patient’s length of stay.

While these tests offer clear benefits for some patient populations, labs looking to adopt rapid multiplex PCR testing must balance their costs against the impact on patient care.

In this webinar, Dr. Benoit Visseaux of Bichat Claude Bernard Hospital, a university hospital in Paris, will discuss his experience with multiplex PCR testing for respiratory viruses. Dr. Visseaux will discuss the implementation of these tests in the context of improving patient 

Sponsored by
Thu
May
16
1:00 pm2019
Sponsored by
PerkinElmer

A Comprehensive Workflow for Soil Metagenomics Analysis Using Shotgun Sequencing

Genome Webinar

Scientist, R&D Department, Illumina

This webinar will discusses a comprehensive end-to-end workflow for soil metagenomic shotgun sequencing that offers an unbiased alternative to amplicon-based approaches to assess the composition of culture-free microbial communities and predict functional profiles. 

The soil microbiome represents a highly diverse and complex microbial community that contributes to many aspects of human, animal and environmental health. Due to the biodiversity of soil microbial communities and the presence of various PCR and library preparation inhibitors, such as humic substances, unbiased extraction of high-quality DNA for NGS has been challenging for soil metagenomic studies.

This webinar focuses on the following topics:

  • Utility of shotgun sequencing using culture-free soil samples
  • Validated methodologies for gDNA extraction, library preparation, and sequencing
  • User-friendly analytical pipeline for taxonomic classification, alpha-diversity measurements, hierarchical clustering, and functional potential
Sponsored by
Wed
May
15
11:00 am2019
Sponsored by
Thermo Fisher Scientific

Discovery of Exon-Level CNVs in Daily Practice for Constitutional Genome Testing

Genome Webinar

Team Leader, Intellectual Disability & Congenital Anomalies, Department of Human Genetics, Radboud University Medical Center

This webinar discusses how Radboud University Medical Center’s Department of Human Genetics is using exon-level copy number variant (CNV) detection by microarray to assist its efforts in constitutional genome testing. 

Nicole de Leeuw of Radboud University Medical Center shares how CytoScan XON, a high-sensitivity exon-level microarray, compares with CytoScan HD in constitutional cytogenomics, in both prenatal and postnatal samples with congenital anomalies and/or neurodevelopmental delay.

This webinar shares data supporting the use of CytoScan XON to test multiple genes for intragenic CNVs in the human genome and demonstrates how the CytoScan XON yields good array test results with DNA samples from a variety of tissues of origin.

For Research Use Only. Not For Use In Diagnostic Procedures.

Sponsored by