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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 will focus 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, will discuss 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 will detail 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.

Sponsored by

Assistant Investigator, Stowers Institute for Medical Research

This webinar will outline a study that combined genome-wide and classical molecular approaches to demonstrate that translation strongly affects mRNA stability in a codon-dependent manner, ultimately influencing mRNA and protein levels in higher organisms.

Ribosomes are the most abundant RNA-binding structures in the cell, and while their main function is to decode nucleotides into amino acid sequences, translation can also affect mRNA stability depending on codon composition. This regulatory pathway is different from codon usage or bias and is known as "codon optimality," defined as the property of given codons to regulate mRNA stability in a translation-dependent manner.

In this webinar, Ariel Bazzini of the Stowers Institute for Medical Research will detail a study that took three independent approaches in different human cells. The team measured the decay of existing mRNAs by performing time-course RNA-seq; measured mRNA stability independent of untranslated regions (UTRs) using a vector-based library termed ORFome; and measured mRNA stability without blocking mRNA transcription using a method called SLAM-seq.

Dr. Bazzini will discuss the study's findings, which provide valuable insights into a novel and powerful regulatory pathway that may be an underlying cause of misregulated gene expression in human conditions and diseases.

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1:00 pm2019
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Overview and Insights from the 2018/19 ABRF Multi-Laboratory DIA Study


National Institute of Standards and Technology

Leibniz Institute on Aging – Fritz Lipmann Institute

This webinar will outline a project led by the Association for Biomolecular Resource Facilities to help academic and core facilities who are using Data-Independent Acquisition (DIA) technology for protein quantification.

Proteomics researchers are realizing the promise of DIA, but due to the variety of acquisition methods, there is a need to develop best practices and offer opportunity for adoption. The ABRF Proteomics Research Group (PRG) realized that there was a need for a go-to resource for new users interested in DIA studies. Such a resource would provide information about sample processing, data acquisition, and data analysis.

As part of this study, a prototype sample set was used that was comprised of a HeLa digest spiked with four non-human proteins at different concentrations. Upon request, this sample was provided to 64 participants from labs all across the world, along with recommended data-acquisition methods. Raw data was requested from participants for the PRG to analyze. The user profile of the 45 laboratories who submitted the data had a good representation of users who were new to DIA; as well as those who had prior DIA experience.

Results from this study and future plans will be presented in the webinar.

Sponsored by
11:00 am2019
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Proteomics for Precision Medicine: New Workflows to Support Translational Research


Senior Director,
Thermo Fisher Precision Science Center

Head of Applications,

This webinar will address new translational workflows to support proteomic profiling for biomarker discovery through precision medicine.

Recent advances in mass spectrometry have expanded the opportunities for translational proteomics, which complements other omics disciplines such as genomics, transcriptomics, and metabolomics/lipidomics. However, a key challenge is bridging the gap between early-stage discovery and next-stage, routine quantitative application of biomarker assays in the clinical research setting.

To accelerate the discovery of clinically actionable biomarkers, workflow solutions need to address scalability, reproducibility, and robustness. They also need to support the analysis of larger patient cohorts.

Our first speaker, Emily Chen, senior director of the Thermo Fisher Precision Science Center, will discuss the need to achieve precision proteomics as a first step toward achieving precision medicine. She will present precision medicine workflows that focus on biofluids and FFPE tissues and applications using these workflows.

Our second speaker, Nicolai Bache, head of applications at Evosep, will discuss a new low-flow separation system for proteomics-based translational research.

Sponsored by
2:00 pm2019
Sponsored by
Thermo Fisher Scientific

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


Senior Healthcare Consultant,
ARUP Laboratories

This webinar will explore 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 will demonstrate, 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

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

This webinar will discuss 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 will discuss how her lab approaches molecular testing as a quality improvement initiative. She will present the EPIDEM model of quality improvement, which stands for Exploration, Promotion, Implementation, Documentation, Evaluation, and Modification.

Dr. Zhou will review 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

David T. Pride, MD, PhD, Director of the Molecular Microbiology Laboratory; Associate Director of the Clinical Microbiology Laboratory, University of California, San Diego

Director of Molecular Diagnostics & Assistant Director of Infectious Disease Diagnostics, Northwell Health Laboratories; Director of Microbiology, Long Island Jewish Medical Center

This webinar will share the results of comparisons of commercially available nucleic acid amplification tests for use in routine screening of pregnant women for Group B Streptococcus (GBS).

GBS colonization occurs in about 18 percent of pregnant women worldwide and about 25 percent of pregnant women in the United States. Spread of GBS to newborn children occurs at an estimated rate of 40 percent to 73 percent, with about 1 percent to 2 percent of colonized newborns developing early-onset disease (EOD), which can include symptoms of septicemia, meningitis, or pneumonia, and may result in long-term disabilities such as retardation, hearing or vision loss, and potentially death.

The Centers for Disease Control and Prevention recommends universal screening with enriched culture-based methods at 35 to 37 weeks of pregnancy to identify women colonized with GBS. Nevertheless, EOD due to GBS still occurs, and 81 percent of neonates who develop EOD are born from mothers with a negative GBS screening test, suggesting a high rate of false negatives for culture-based screening tests. Therefore, screening methods are shifting to rapid and highly sensitive nucleic acid amplification tests (NAATs).

In this webinar, directors of two leading microbiology labs will share studies that compared four commercial molecular GBS assays to the standard-of-care culture method.

Our speakers will discuss how these assays compared to the standard of care as well as to each other.

Sponsored by

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

This webinar will discuss 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, will review 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 will also discuss the patient perspective and how different factors may influence the choices and preferences of pregnant women for prenatal care.

Sponsored by

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

Postdoctoral Researcher, VIB-KU Leuven, Belgium

This webinar will outline 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 will be:

  • 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
Recent GenomeWebinars
11:00 am2019
Sponsored by
Sophia Genetics

From Manual to Automated Library Prep: Implementation and Analytical Validation


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
Sponsored by
1:00 pm2019
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Clinical Genomics of NTRK Fusion Detection in Cancer


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.

Sponsored by

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
Sponsored by
11:00 am2019
Sponsored by

The Promise of Liquid Biopsy in Lung Cancer Monitoring


Head of the Cancer Genome Research Division; German Cancer Research Center

This webinar provides an overview on the potential for liquid biopsy approaches to monitor therapy resistance in lung cancer.

Lung adenocarcinoma is the most prevalent subtype of lung cancer and characterized by considerable morphological and mutational heterogeneity, which is the primary source of therapy resistance and tumor progression. For many targeted treatments, the underlying molecular alterations leading to therapy resistance are well established. However, frequent tissue sampling to verify such alterations and adapt treatment strategies is not possible. Liquid biopsy approaches are potentially appropriate to overcome these obstacles: Circulating tumor DNA might be superior to tissue biopsies in representing tumor heterogeneity. In addition, frequent blood draws are feasible to monitor molecular alterations even in research subjects who suffer from substantial comorbidities.   

In this webinar, Dr. Holger Sültmann of the German Cancer Research Center discusses liquid biopsy approaches to monitor lung cancer progression using tumor markers in the blood. The focus will be on nucleic acid mutation detection and quantification in clinical samples and their relevance for diagnostics.

The webinar also addresses strengths and limitations of PCR- and NGS-based analysis technologies.

Sponsored by
1:00 pm2019
Sponsored by
NRGene & Illumina

Accelerating Crop Research with High-Quality Affordable Genome Assemblies


School of Plant Sciences and Food Security, Institute for Cereal Crop Improvement (ICCI); Tel Aviv University 

Director of DNA Services, University of Illinois at Urbana Champaign

This webinar discusses the impact of affordable de novo genome assemblies on crop research.

De novo genome references are critical to understanding plant biology and unlocking the potential of genomics for cutting-edge plant breeding in agriculturally important species. However, assembling quality references from sequencing data can be a costly, complex, and time-consuming process.

In this webinar, Assaf Distelfeld from Tel Aviv University, a world leader in wheat genomic research, discusses recently generated genome assemblies of wheat progenitors, and how this new resource can help solve biological questions and improve wheat breeding. In addition, representatives of NRGene, Illumina, and the University of Illinois at Urbana Champaign detail how their technology and services helped make this project happen, and others like it.

The recent decrease in short-read sequencing costs and increased read lengths on the Illumina Novaseq sequencer and SP flow-cell, combined with NRGene’s accumulated experience in wheat genomics and bioinformatics, resulted in a more than 50 percent reduction in project cost. These innovations make de novo sequencing more accessible and affordable for researchers than ever before, without compromising genome assembly quality. 

Sponsored by
1:00 pm2019
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A CRISPR Study to Decipher the Role of Genetic Risk Variants in Glaucoma


Assistant Professor of Ophthalmology, University of California San Diego, Shiley Eye Institute

This webinar will discuss a study that used CRISPR/Cas9 to engineer mice harboring risk variants associated with glaucoma in order to assess their functional relevance. 

Glaucoma is a group of diseases with diverse molecular mechanisms of pathogenesis, all of which converge on a common pathway leading to typical optic nerve damage, loss of retinal ganglion cells, and consequently loss of vision. Retinal ganglion cells (RGCs) are the brain’s only connection to the outside world and, despite numerous studies, there is not yet a successful therapy to prevent their loss in glaucoma. Recent advances in genomics have allowed researchers to describe the association between the risk of glaucoma and specific genomic loci. Several studies have identified the nonsynonymous coding variant SIX6-(rs33912345 His141Asn) as strongly associated with glaucoma.

Our speaker, Dorota Skowronska-Krawczyk, PhD, will discuss an effort that sought to directly assess the functional relevance of the SIX6 risk variant in eye function. Dr. Skowronska-Krawczyk and colleagues used CRISPR/Cas9 technology to engineer mice harboring human risk variants and non-risk variants of SIX6. They then used immunostaining and visual evoked potential approaches to determine that the SIX6-His variant is indeed causing more cell death and vision loss.

Dr. Skowronska-Krawczyk will discuss how her team used NanoCellect’s WOLF Cell Sorter to sort the RGCs required for this study. The live, purified RGCs, isolated from retinas three days after intraocular pressure elevation, were assessed for transcriptional and epigenetic changes in the context of the SIX6 genetic variant. Sample preparation steps and bioinformatic analysis of the findings will also be presented.

Sponsored by

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
Sponsored by

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

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

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
11:00 am2019
Sponsored by
Thermo Fisher Scientific

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


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

Associate Professor, Biomedical Engineering, Yale University

Director, New Collaborations, Isoplexis

This webinar discusses cutting-edge single-cell approaches to discover biomarkers that could elucidate the mechanism of a variety of autoimmune disorders as well as autoimmune and inflammatory reactions to immunotherapies.  

Many therapeutics seek to address a large growing need in autoimmune and central nervous system diseases. Additionally, despite their success in addressing major challenges in refractory blood cancers, current immunotherapeutic strategies are still hampered by autoimmune-like reactions and neurotoxicity-related events. Inflammatory responses from T-cells, monocytes, and other immune cells can have detrimental effects on patients in each of these areas, but it is challenging to understand the functional profile of these immune cells, and thus how to use this type of information to predict progression of autoimmune-like responses.

Our speaker, Dr. Rong Fan of Yale University, discusses IsoPlexis’ advanced immune-based approaches in systemic lupus erythematosus and adverse events like cytokine release syndrome and neurotoxicity in cell therapy. He describes the uses of single-cell functional proteomics in determining correlates and drivers of these adverse reactions, and how these biomarkers may be used in the future to improve therapeutic development and intervention.

In addition, Jon Chen of IsoPlexis shares a case study showing that monocyte polyfunction in multiple sclerosis tracks differential responses to treatments for early diagnosis and early intervention.

This webinar will be pre-recorded. You may submit questions in advance via the registration page.

Sponsored by

Medical Oncologist, Johns Hopkins Kimmel Cancer Center

Director of the Institute of Laboratory Medicine, German Heart Center of the Technical University

This webinar presents recent evidence that demonstrates how incorporating circulating tumor DNA (ctDNA) assessments into real-world patient management can influence patient care decisions, alter radiographic interpretations, and impact clinical outcomes.

In particular, this webinar discusses OncoBEAM a ctDNA testing method based on BEAMing (Beads, Emulsion, Amplification, Magnetics) technology developed at the Johns Hopkins University School of Medicine. OncoBEAM provides highly sensitive mutation analysis for the accurate and reliable detection of rare tumor-derived DNA present in the blood of patients with cancer.

In this webinar, Dr. Evan Lipson of Johns Hopkins shares his experience on the clinical utility of ctDNA measurements as an adjunct to radiographic imaging for monitoring disease activity in advanced melanoma patients undergoing treatment with targeted therapy or immune checkpoint inhibitors. These results have important implications for the clinical management of patients receiving immunotherapy and demonstrate the value of performing ctDNA testing for better resolution of tumor activity when performed alongside routine imaging and clinical assessments.

Next, Dr. Stefan Holdenrieder of the Technical University of Munich examines the value of KRAS-mutant ctDNA as a highly specific marker for early response prediction and treatment monitoring of advanced pancreatic cancer patients receiving chemotherapy. The discussion focuses on the potential clinical benefit of monitoring changes in ctDNA levels in response to therapy, which appear more pronounced and rapid than changes in established protein biomarkers.

Sponsored by

Lead Specialist, Clinical Genomics, Melbourne Genomics Health Alliance

This webinar discusses the implementation of an enterprise-wide clinical genomics platform that is shared across 10 hospitals and research organizations in the Australian State of Victoria.

Built and managed by the Melbourne Genomics Health Alliance, GenoVic supports an end-to-end workflow for genomic testing across multiple independent testing laboratories and hospitals.

In designing the system, the Alliance focused on standardizing the integration of multiple laboratories to a single system and facilitating secure sharing of high-quality genomic information. Following a rigorous qualification process, the Alliance selected best-in-class tools for integration into GenoVic, delivering a standardized, integrated, and interoperable system to meet both the clinical laboratory and patient needs for the Alliance member organizations. 

Join Dr. Natalie Thorne, Lead Specialist, Clinical Genomics, to learn how the Melbourne Genomics Health Alliance:

  • Created an infrastructure for scalable delivery and sharing of high-quality genomic information securely, efficiently, and sustainably
  • Advanced deployment of streamlined clinical interpretation of genomic variants by partnering with Agilent and Alissa Interpret to improve workflow management, curation, and traceability
  • Facilitated the fast and changing pace of genomics by designing a flexible, modular environment to evolve as needs change over time. 

Dr. Thorne will share key learnings from the project that molecular diagnostic laboratories can use to bring efficiency to their variant interpretation workflow through standardization and integration.

Alissa Interpret is a USA Class 1 Exempt Medical Device, Europe CE IVD, Canada and Australia Class I IVD Device.

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