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GenomeWebinars

Chief Executive Officer,
Gatehouse Bio

This webinar will provide an educational background on molecular profiling using small RNA analytics.

The future of medicine is one of precision; targeting molecular pathways with the right therapy for the right patient at the right time. The industry has moved on from analyzing DNA alone and now exploring the other 98% of data locked within the genome. While DNA information is static, RNA information is dynamic: in a healthy organism, RNA acts as a "switch," turning on and off in certain cells at certain times. When the wrong switches get turned on or off at the wrong time, this can lead to disease.

In this webinar, Dr. David W. Salzman of Gatehouse Bio will describe an approach for identifying small RNA signatures using their sRNAlytics platform. Small RNA signatures serve as effective classifiers used to define molecular profiles of subtypes of disease across therapeutic areas.

Dr. Salzman will also discuss how Gatehouse Bio is using this analysis to develop next-gen therapeutics by combining small RNA powered molecular profiling with new delivery mechanisms and advanced compounds. They have partnered with biobanks, academic research institutes, and drug developers to build an ecosystem that is focused on realizing their vision.

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

Department of Pathology, Director of the Colorado Center for Personalized Medicine Biobank Laboratory
Heritable Disease Testing in the Colorado Molecular Correlates Laboratory at the University of Colorado

This webinar will discuss what it takes to begin realizing precision medicine in a comprehensive clinical infrastructure, with insights from the Colorado Center for Personalized Medicine (CCPM).

Kristy Crooks, Assistant Professor at the University of Colorado Denver, will describe how CCPM approached implementation of personalized medicine and collaborated with BC Platforms to create a system for clinically-compliant workflows from raw data to report generation.

Genetic data production and integration into clinical workflows is rapidly accelerating with the rise of new technologies and consumer interest. The accumulation of large-scale health and genetic data creates significant opportunities for new insights to improve patient care and accelerate therapeutic development. There is a demand for efficient, end-to-end data processing, but a bottleneck in data management and interpretation contributes to challenges in realizing the potential of this data.

To address these challenges, CCPM, in collaboration with BC Platforms, developed an automated pipeline that enables high-throughput processing of Illumina genotype array data, pharmacogenetics reporting for clinical decision support, and direct delivery of these results through integration with the Electronic Health Record (Epic). This webinar will highlight insights gained while building this system and ways to tackle challenges associated with the shift to data driven healthcare.

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
Mon
Dec
9
11:00 am2019
Sponsored by
Illumina

Emerging Biomarkers in Thyroid Cancer and NSCLC

GenomeWebinar

Associate Professor,
UCSD

This webinar will discuss 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, will provide 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 will also discuss different biomarker testing approaches, practical considerations, and address challenges around fusion detection.

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

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 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

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 will address 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 Serviceswill discuss 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 Healthwill discuss 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
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

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

A UK woman is suing three National Health Service Trusts for not telling her about her father's Huntington's disease diagnosis, the BBC reports.

LiveScience reports that a novel mutation in the LPL gene was uncovered in three siblings with very high triglyceride levels.

The president of Nankai University is embroiled in a data manipulation scandal, the South China Morning Post reports.

In PNAS this week: cytotoxic CD4 T cell signature in supercentenarians, evolutionary history of beetles, and more.