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GenomeWebinars

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
Wed
Feb
5
1:00 pm2020
Sponsored by
LGC

Development of a Novel Multiplex Assay: A Partnership Case Study

GenomeWebinar

Senior Scientist, R&D Group, Co-Diagnostics 

Head of Business Development, Co-Diagnostics

General Manager, Magna Mosquito Abatement District

This webinar will provide a behind-the-scenes look at the collaborative development of a novel multiplex assay to speed detection of mosquito-borne illness in the clinical setting.          

A pivotal part of the molecular diagnostics innovation chain that is often overlooked is the relation between critical component suppliers, test manufacturers, and end users. This webinar will address the development and utility of an innovative multiplex application for detection of Zika, dengue and chikungunya in mosquitos, enabling communities to reduce infection rates by vector control and prevent unnecessary infections and subsequent treatments.

Dr. Jana Kent, Senior Research Scientist from Co-Diagnostics (CoDx), will introduce the company’s CoPrimer technology, which provides flexibility in multiplex assay design without cross-reactivity or non-specific amplification (i.e. primer dimers). She will share insights on the development process of the Zika, dengue and chikungunya test and highlight best practices when working with critical component suppliers and end users.

Next, Ryan Lusty, General Manager of the Magna Mosquito Abatement District in Utah, will discuss the implementation of this test in his county and how it impacted healthcare outcomes. Ryan will discuss the importance of same-day test results for vector control, as opposed to waiting several days for state lab results.                    

Joseph Featherstone from CoDx will wrap up by addressing the importance of partnership for the success of innovation, development, and commercialization of molecular diagnostics and will present opportunities for new research and commercial applications.

Sponsored by
Tue
Feb
18
1:00 pm2020
Sponsored by
Advanced Cell Diagnostics

Genome-wide Study Reveals a Pseudogene-Associated Recurrent Gene Fusion in Prostate Cancer

GenomeWebinar

Associate Scientist & Professor, Department of Urology; Vattikuti Urology Institute, Henry Ford Health System

Application Scientist, Advanced Cell Diagnostics 

Pseudogenes are a class of non-coding RNA with unknown functions. While there have been anecdotal observations pseudogene candidates with distinct functional roles, the overall genome-wide expression of pseudogenes in cancer has not reported until recently, with the help of next-generation sequencing technology.

In this webinar, Nallasivam Palanisamy of the Henry Ford Health System will discuss an effort to understand the genome-wide expression of pseudogenes across several solid cancers, which revealed a novel gene fusion involving a pseudogene in prostate cancer.

The objectives of this seminar are:

  • to present an overview of pseudogene expression in cancer
  • to discuss a method for the analysis and discovery of cancer-specific pseudogenes
  • to outline the application of RNA in situ hybridization for the analysis of pseudogenes
Sponsored by
Thu
Feb
20
11:00 am2020
Sponsored by
Thermo Fisher Scientific

Advances in NGS Gene Expression Studies to Reduce The Cost of Sequencing

GenomeWebinar

Assistant Professor, Division of Microbiology, Tulane University

Senior Global Marketing Manager, Thermo Fisher Scientific

This webinar will discuss the use of 3’ mRNA sequencing to reduce the cost of gene expression studies on Illumina NGS systems.

Focusing on a study that used peripheral blood mononuclear cells from pregnant macaques acutely infected with Zika virus, Dr. Nicholas Maness of Tulane University will discuss the pros and cons of 3’ mRNA sequencing compared to whole-transcriptome sequencing for gene expression studies. He will detail the differences in the data collected and the costs of each approach and will offer suggestions on when to use each method.

This webinar is a must-see for anyone seeking to reduce the cost of sequencing from gene expression studies or who wish to perform pilot studies inexpensively.

Cris Kinross of Thermo Fisher Scientific will also provide an overview of the differences between 3’ mRNA-seq, mRNA-seq, and whole-transcriptome sequencing.

 In this webinar, you will learn how to:

  • Reduce the cost of NGS gene expression studies
  • Consider if 3’ mRNA sequencing or whole-transcriptome sequencing meets the needs of your project
  • Obtain answers more quickly using smaller data sets
Sponsored by

Lab Director, Clinic for Special Children

 

Senior Vice President, AutoGen

This webinar will explain how the Clinic for Special Children in Strasburg, Pennsylvania, has transformed its DNA workflows to improve the diagnosis and treatment of genetic illnesses that are prevalent in the pediatric population of its community.

Dr. Erik Puffenberger, lab director at the clinic, will discuss how the organization improved its genetic workflows in order to give patients the best care possible and provide better outcomes for families. Dr. Puffenberger will share details of how the clinic, as a small, specialized organization, balances the desire to adopt new technologies with the realities of working with a limited budget.

One of the many diseases the clinic diagnoses and treats is spinal muscular atrophy (SMA). The occurrence of SMA is much higher within the community the clinic serves, comprising Amish and Mennonite populations, than in the general population. This webinar will highlight how the clinic has evolved its DNA workflows to improve clinical outcomes for SMA and other diseases.

Dr. Puffenberger will detail the DNA extraction technologies that have allowed the clinic to improve its workflows and will also discuss the promise of cell-free DNA for non-invasive prenatal diagnosis and treatment.

Webinar participants will learn about the following areas:

  • How to optimize the workflow in a clinical environment to diagnose and treat genetic illnesses
  • Which sample types provide the best chances for a positive clinical outcome
  • New ways automation enables non-invasive prenatal diagnosis and treatment
Sponsored by

Science Leader,
National Measurement Laboratory at LGC 

Since the publication of the “The Digital MIQE Guidelines: Minimum Information for Publication of Quantitative Digital PCR Experiments” (dMIQE) in 2013, there has been a large expansion of the applications of dPCR such as single nucleotide variations (SNVs) and copy number variations (CNVs) measurements associated with disease diagnostics. At the same time, international measurement organisations, such as the National Measurement Laboratory (NML) at LGC, have been working towards the development of molecular methods that are SI traceable to support the translation of these applications into the clinic. Digital PCR has the potential to be a traceable method as the concentration of a target is calculated based on the proportion of target-positive partitions and the application of Poisson statistics.

This webinar will focus on the use of dPCR for quantifying gene CNVs frequently used in diagnosis and selection of targeted therapy. Using models, like the HER2 gene in breast cancer, we will investigate the ability of dPCR to measure small changes in the gene copy number with further work to develop methods to counteract the measurement bias that can be caused by linked target copies in the sample. The talk will also highlight key dPCR performance parameters considered in the updated version of the dMIQE guidelines thereby fostering dPCR best practice and the use of dPCR as a gold standard approach.

Sponsored by
Recent GenomeWebinars

VP of Research and Development, NeoGenomics

This webinar will provide a first-hand look at how a clinical lab evolved its tumor profiling workflow from a targeted panel approach toward comprehensive genomic profiling.  

Cancer is a highly complex disease and understanding the various alterations that together determine mechanisms of disease onset, progression, recurrence, and response to treatment is not trivial. These alterations, however, are not all found at the DNA level. Multimodal approaches can generate a profile of these various alterations, but this approach requires a fragmented and challenging workflow.

More recently, the field has started moving toward comprehensive genomic profiling (CGP), enabling a snapshot of the genetic makeup of the tumor at a specific timepoint. This approach provides insights beyond mutations at the nucleotide level that may provide a better understanding of the state of the disease and the various pathways that modulate its progression and response to its environment, including treatment.

In this webinar, Vincent Funari of NeoGenomics will discuss how his team has evolved its profiling approaches for both heme and solid tumors from targeted panels to more comprehensive genomic profiling.

Dr. Funari will highlight tools that enable a more streamlined path for adopting CGP, enabling operational efficiencies such as reduced overall cost while delivering high-quality data. He will also share additional insights his team gained into alterations that were previously missed due to limitations of current technologies.

Sponsored by

Lecturer & RNAi Facility Screening Manager,
Genomic Approaches to Drug Discovery MSc Lead,
The University of Sheffield

Product Manager,
Horizon Discovery

This webinar will provide an overview of high-throughput RNAi screening from the perspective of a dedicated RNAi screening facility.

The use of reverse genetics, such as RNAi, in large-scale functional genomics has been an important tool in gene discovery. Since the beginning of the century, Drosophila, C. elegans and human genomes have been systematically investigated, using RNAi, to probe important biological processes. RNAi has become both practical and routine in cell culture, due to bulk liquid handling, automated data acquisition and processing.

The Sheffield RNAi Screening Facility has been functional for more than 10 years, initially performing Drosophila melanogaster screens and later human.

This presentation will include the aspects of building a screening platform, uses of automation, designing robust screens, experimental controls, and hit validation.

Sponsored by
Tue
Dec
17
10:00 am2019
Sponsored by
Thermo Fisher Scientific

Non-Invasive Characterization of Solid Tumors via NGS Liquid Biopsy Testing

GenomeWebinar

Co-Director, Solid Tumor and Constitutional Disease Diagnostic Laboratory,
University of Navarra

This webinar reviews how liquid biopsy can be considered as an alternative and non-invasive method to tissue biopsy for cancer molecular characterization.

Liquid biopsy enables the study of tumor-specific circulating components, including circulating tumor cells (CTCs), circulating cell-free tumor DNA (ctDNA) and RNA (ctRNA). The approach brings both great potential and new challenges to precision medicine.

This webinar highlights two key aspects of successful implementation of liquid biopsy in the laboratory: proficiency testing and interlaboratory comparison. Additionally, our speaker, Dr. Gorka Alkorta-Aranburu of University of Navarra, discusses specifics of the liquid biopsy methodology, including properties of cell-free nucleic acids and considerations for next-generation sequencing technology.

Learning objectives:

  • The benefits of liquid biopsy as a non-invasive method to better understand cancer development and treatment.
  • The advantages (and challenges) of an NGS approach to study circulating cell-free nucleic acids for clinical applications.
Sponsored by
Thu
Dec
12
11:00 am2019
Sponsored by
PerkinElmer

Ribosome Profiling in Plants by Deep Sequencing of Small RNAs

GenomeWebinar

PhD Candidate, University of Melbourne and Potsdam University;
Researcher, Max Planck Institute of Molecular Plant Physiology

This webinar will discuss the use of deep sequencing of small RNAs to analyze translational regulation in plants.

Ribosomes are the cellular machinery that translate the genetic code into functional proteins. Currently, the best technique to study translation is ribosome profiling, which utilizes deep sequencing to identify the small RNA fragments (~30 nucleotides) that are protected inside translating ribosomes. These sequences can be mapped to a genome to provide a high-resolution proxy of translational activity. During library construction, the use of randomized adapters and unique barcodes can reduce ligation bias and allow for the removal of PCR duplicates.

In this webinar, Michael Ting of the University of Melbourne and Potsdam University will discuss his work in using ribosome profiling in plants to uncover novel gene regulatory mechanisms. His talk will focus on upstream open reading frames, which are regulatory elements that can fine-tune the amount of proteins that are synthesized.

Sponsored by

Clinical Lab Support Coordinator, Molecular Diagnostics Laboratory,
Sentara Healthcare Laboratory Services

Associate Chief of Clinical Pathology and Medical Director Molecular and Microbiology Laboratories,
Baystate Health

This webinar addresses how two molecular laboratories are implementing tertiary analysis software to improve their precision oncology workflows.

Solid tumor biomarker analysis by next generation sequencing (NGS) allows for better tissue stewardship and more efficient delivery of actionable results than other methodologies like single gene sequencing, but data analysis and interpretation remains a significant barrier to NGS adoption in community settings. In particular, the final tertiary analysis of NGS data is complicated by several factors, including variant-to-variant interactions, variant curation, and time to report.

Our first speaker, Dr. David Seidman of Sentara Healthcare Laboratory Servicesdiscusses how automated interpretation of NGS variants with Navify Mutation Profiler reduces the need for time-consuming and error-prone manual analysis. Software capable of automatically identifying, interpreting, and visualizing clinically relevant variant combinations promises to further decrease the manual review time necessary to account for relevant variant combinations. In a diagnostic setting, addressing variant-variant interplay in an automated fashion may also help prevent inaccurate reporting that can adversely affect the test subject.         

Our second speaker, Dr. Franklin Moore of Baystate Healthdiscusses his experiences integrating Navify Mutation Profiler into his lab's workflow, both during the evaluation phase and the clinical validation. Dr. Moore will present data on variant detection, annotation, interpretation, and tier classification compared to a manual pipeline method. He will also address, issues, challenges, and future directions.

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

Maximizing Diagnostic Yield with an Optimized Variant Interpretation Platform

GenomeWebinar

Postdoctoral Researcher,
Royal College of Surgeons Ireland (RCSI)

This webinar discusses 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 discusses how her team has implemented an all-in-one solution for the analysis and interpretation of sequencing results in the epilepsy clinic. She details 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
Mon
Dec
9
11:00 am2019
Sponsored by
Illumina

Emerging Biomarkers in Thyroid Cancer and NSCLC

GenomeWebinar

Associate Professor,
UCSD

This webinar discusses emerging biomarkers for thyroid cancer and non-small cell lung cancer, with a particular focus on detecting gene fusions such as RET.

Our speaker, Dr. Sandip Patel of UCSD,  provides an overview of biomarker-guided therapies for thyroid cancer and NSCLC and will discuss key emerging biomarkers for these indications along with their supporting evidence.

Dr. Patel also discusses different biomarker testing approaches, practical considerations, and address challenges around fusion detection.

The webinar highlights hybrid-capture based comprehensive genomic profiling as a preferred method, along with a background and overview of this approach.

Sponsored by

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