GenomeWebinars

Founder, AdvaGenix

This webinar offers a look at how an advanced genetics laboratory implemented and validated a commercial bioinformatics system to help scale its operations. 

William Kearns, founder of genetics testing lab AdvaGenix, will share his team's experience as it sought to increase its testing throughput while maintaining high quality standards. After studying the time and cost associated with building and validating a bioinformatics platform from scratch, as well as the cost of maintaining such a system, the AdvaGenix team decided to look for commercial solutions. 

AdvaGenix needed a solution that adhered to society guidelines and also included domain expertise in genetic testing. The team ultimately opted for a system from Qiagen and has since been able to scale up its operations by at least 25-fold.  Dr. Kearns will discuss his team's experience and learnings from this implementation and the results they have seen so far.

Sponsored by

Associate Director, Global Clinical Operations, Illumina

Lab Operations Director, Navican

Lab Director,
University of Illinois Chicago

Gregory J. Tsongalis, PhD, HCLD, CC,
Professor of Pathology;
Director, Laboratory for CGAT;
Department of Pathology and Laboratory Medicine,
Dartmouth Hitchcock Medical Center and the Audrey and Theodor Geisel School of Medicine at Dartmouth

Today’s challenging clinical next-generation sequencing applications require a rigorous, comprehensive quality control management program to ensure confidence in results.

In this roundtable discussion, three industry experts will share practical learnings on implementing a best-in-class clinical NGS lab QC management program on time and budget.

Learn how QC has been implemented by your peers as the panel expands on the results of the most comprehensive survey to date on NGS QC practices.

 

 

Registrants for this webinar are encouraged to take the survey here. Data from the survey will be shared during the webinar, and the survey provides the opportunity for registrants to share questions for the panel.

Sponsored by
Tue
Sep
18
11:00 am2018
Sponsored by
Horizon Discovery

Validation and Internal QC of Clinical NGS to Support an Accredited Diagnostic Workflow

Genome Webinar

Head of Bioinfomatics, Sarah Cannon Molecular Diagnostics

In this webinar, Kevin Balbi, head of bioinformatics at Sarah Cannon Molecular Diagnostics, will discuss the validation of targeted sequencing panels on the Ion Torrent platform using Horizon Discovery’s Tru-Q controls. He will also discuss how those controls are being used for ongoing internal quality control (IQC) and how this has supported a recent laboratory inspection by the United Kingdom Accreditation Service under ISO15189.

Sarah Cannon Molecular Diagnostics, part of HCA Laboratories in London, offers a range of molecular assays, from single-gene variant analyses through to a 50-gene panel somatic variant analysis, MLH1 promoter hypermethylation, T & B cell clonality assessment, and microsatellite instability status.

Validation of targeted sequencing panels for clinical diagnostic use requires reference material with a range of known variants and confirmed variant frequencies. Additionally, the continual assessment of assay performance is key to ensuring robust and reliable results.

Dr. Balbi will demonstrate how his team has validated three targeted DNA sequencing panels for clinical diagnostic use and assessed their limit of detection using the Horizon Discovery Tru-Q controls. He will explain the lab's approach to IQC, also showing the reliability of the assays over time. These data contributed to the accreditation of the bioinformatics workflow under ISO15189.

Sponsored by
Recent GenomeWebinars
Wed
Aug
15
1:00 pm2018
Sponsored by
Swift Biosciences

The Cancer Avatar Project: Using Targeted NGS to Analyze Circulating Tumor DNA

Genome Webinar

Senior Scientist,
California Pacific Medical Center Research Institute

Product Manager,
Swift Biosciences


This webinar will cover the Cancer Avatar Project at the California Pacific Medical Center Research Institute (CPMCRI), and Swift Biosciences’ technology that helps to overcome the complexity of tumor profiling, namely the company’s Accel-Amplicon NGS sequencing workflow.

In the first part of this webinar, CPMCRI's Dr. Pierre-Yves Desprez will discuss the Cancer Avatar Project, a multimodal approach that includes living biology, genomics, high-throughput pharmacologic screening, and informatics to design highly individualized treatment options for fast-growing solid tumors (8 different types of cancer) in patients who have exhausted standard-of-care options.

His team has optimized a method for sequencing circulating tumor DNA (ctDNA) obtained from patients' blood. Mutations identified in ctDNA can reflect alterations found in the primary tumor. Dr. Desprez will share DNA sequencing results from more than 100 matched tissue and ctDNA samples to reveal driver mutations. Additionally, he will outline his lab’s strategy to analyze mutational profiles of longitudinal blood biopsies to monitor each patient’s response to treatment and/or evolution toward resistance in real time and in a non-invasive manner. This information is anticipated to be instrumental in designing treatment strategies in patients with recurrent or progressive disease.

In the second part of this webinar, Dr. Drew McUsic of Swift Biosciences will give a brief overview of Swift’s Accel-Amplicon NGS sequencing workflow and the new customizable cancer panels for targeted sequencing studies, including Swift’s Accel-Amplicon 56G Oncology Panel v2 kit for target amplification.

Sponsored by

President & CTO, Genosity

This webinar will explore advances in next-generation sequencing (NGS) library prep technologies and their relationship to the evolution of targeted gene panels.

Our speaker will review different aspects of genomic sequencing across both germline and somatic applications and will explore the role that a robust exome can play in replacing smaller panels.

Specifically, this webinar will address:

  1. The process of developing new capture panels and optimizing assay performance;
  2. The technical performance of the Twist Human Core Exome probe design as it relates to covering the human exome; and
  3. The value in establishing a robust exome workflow for research and discovery.
Sponsored by

Postdoctoral Fellow and Senior Researcher,
School of Medical and Health Sciences,
Edith Cowan University

Vice President,
Director, Clinical Genomic Testing Center
Kingmed Diagnostic

Senior Director, Scientific Affairs,
Agena Bioscience

In this two-part webinar, Dr. Elin Gray, from Edith Cowan University, and Ms. Weiwei Zhao, from Kingmed diagnostic, will compare the highly sensitive, multiplexed UltraSEEK technology, on the MassARRAY system, to digital droplet PCR (ddPCR) results on melanoma and non-small cell lung carcinoma samples.

Dr. Elin Gray will first demonstrate how the UltraSEEK Melanoma panel, probing for 61 mutations over 13 genes, provided equivalent analytical sensitivity and accuracy to ddPCR. This study included a blinded analysis of 68 mutations detected in 48 plasma samples from stage IV melanoma patients. Ms. Weiwei Zhao will also discuss her study between UltraSEEK EGFR to ddPCR for the detection of T790M, and other EGFR activating mutations in NSCLC. In this study, 94 cfDNA samples from advanced lung cancer patients, who were progressing on EGFR TKI, were run on UltraSEEK and ddPCR. Both UltraSEEK EGFR and ddPCR were able to achieve 0.1% minor allele fractions.

The two studies summarized in this webinar further demonstrate the benefits of using a highly sensitive and multiplexed technology when testing plasma-derived ctDNA for somatic mutations in cancer.

Due to our speakers being located in different time zones, this webinar will be pre-recorded. All webinar registrants have the opportunity to submit questions on the registration page and/or you can email them in after the webinar is released on August 9th.

Wed
Jul
25
1:00 pm2018
Sponsored by
Streck

Antibiotic Gene Surveillance: What You Don’t See Can Hurt You!

Genome Webinar

Professor & Director, Center for Research in Anti-Infectives and Biotechnology. Department of Medical Microbiology and Immunology, Creighton University

This online seminar discusses the advantages of incorporating molecular testing into the microbiology laboratory to aid in the identification of relevant antibiotic resistance mechanisms. 

Surveillance of resistance mechanisms, hospital infection control, and epidemiology require accurate detection of extended-spectrum beta-lactamases (ESBLs), AmpC beta-lactamases, and carbapenemases. For example, an important aspect of infection control is to determine how resistance is spread. Is the spread of resistance due to a clonal outbreak or the movement of mobile genetic elements?

The majority of ESBLs and relevant carbapenemases are encoded on mobile genetic elements; however, AmpC production can be either chromosomal- or plasmid-mediated. Several phenotypic methodologies have been developed to address the detection of beta-lactamase genes, but few can detect the production of AmpC, and none can discern the difference between a chromosomal and plasmid-mediated AmpC producer. Furthermore, a major concern for infectious disease personnel is the inability to detect ESBLs in the presence of AmpC production.

Molecular techniques are required to determine the presence of multiple beta-lactamases within a single isolate or to discriminate between different types of beta-lactamases leading to similar beta-lactam susceptibility patterns. In addition, resistance mechanisms are emerging to other antibiotic classes. The challenge for the infectious disease community is to determine when and if to use molecular testing to aid in the identification of relevant resistance mechanisms, especially when encountering complex susceptibility patterns.

This seminar highlights the most relevant beta-lactamases and the challenges facing the incorporation of molecular testing into the laboratory. Targets in addition to beta-lactamase genes will also be discussed.

Sponsored by

Anna and Zbigniew Scheller Professor of Medicine; Chair, Division of Experimental Pathology and Laboratory Medicine; Department of Laboratory Medicine and Pathology, Mayo Clinic

 

In this webinar, Dr. Fergus Couch from the Mayo Clinic presents data from a large study that used a targeted sequencing panel to determine pancreatic cancer risk associated with inherited mutations in several cancer predisposition genes.

Inherited germline mutations have been suggested to put individuals with prior family history at risk of developing pancreatic cancer. However, the risk of developing pancreatic cancer due to these mutations without a family history of the disease remains largely unknown. To address this, Dr. Couch and colleagues sequenced the coding regions and consensus splice sites of 21 cancer predisposition genes using an optimized custom DNA panel in more than 3,000 pancreatic cancer patients. Inherited mutations in six cancer predisposition genes were identified to be significantly associated with pancreatic cancer.

Dr. Couch outlines challenges of current targeted sequencing approaches for such large studies, detail the methodologies used to analyze this cohort, and present results of this study.

Sponsored by
Thu
Jul
19
11:00 am2018
Sponsored by
Thermo Fisher Scientific

Advances in NGS for Ultra-High Sensitivity Applications in Translational and Clinical Research

Genome Webinar

Co-founder & Chief Technology Officer, Amplexa Genetics

 

This webinar discusses how ultra-highly sensitive and customizable targeted next-generation sequencing panels are applied in inherited disease research. In particular, the seminar highlights a study that sought to test the hypothesis that causative genetic variants for inherited diseases that often fall into the category of “de novo mutations” are sometimes the result of undetected mosaicism in the parents.

In this webinar, Hans Atli Dahl, co-founder and chief technology officer at Amplexa Genetics, shares how this study led to the evaluation of the coming soon Ion AmpliSeq HD* targeted NGS solutions from Thermo Fisher Scientific. He shares details of how the Ion AmpliSeq HD* panels address the need for ultra-high sensitive detection and its potential to deliver new insights about the causes of these types of genetic diseases.

Amplexa Genetics, based in Denmark, specializes in clinical genetic testing and clinical variant interpretation associated with a variety of disorders. The company has a long history of NGS analysis in epilepsy and other encephalopathies and recently moved into molecular genetics of endocrine disorders and direct-to-consumer testing for recessive inheritance risk-assessment.

 

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


Sponsored by
Thu
Jun
28
1:00 pm2018
Sponsored by
PerkinElmer

An Optimized NGS Workflow for Human Metagenomic Analysis

Genome Webinar

Senior Scientist, Genomic Applications Department, Illumina

This webinar reviews a standardized, high-throughput, and fully automated library prep protocol for human metagenomic analysis. 

The human gastrointestinal tract hosts up to 100 trillion microbes with the greatest numbers residing in the distal gut. Given the vast presence of microbial genetic information, the ability to characterize communities from fecal material via next generation sequencing (NGS) has revolutionized the understanding of the human microbiome, and its influence on health. In order to gain further insight on these influences, the need for a standardized and scalable NGS metagenomics protocol is needed to minimize inconsistencies among existing methods (sample collection, sample storage conditions, experimental design, and scalability), which typically lead to data disparities and misrepresentation of the true state of the human microbiome.

In this webinar, Dr. Agata Czyz of Illumina's Genomic Applications Department discusses a comparative metagenomics study that relied on a high-throughput and automated library prep protocol for stool. Dr. Czyz discusses several parameters and methodologies that her team tested as well as the key findings of the study.

Sponsored by

National Cancer Institute, Center for Cancer Research

This webinar outlines a study that sought to characterize the landscape of alternative polyadenylation (APA) in the lung cancer transcriptome in order to gain insight into the role of APA in cancer progression.

APA involves the selection of an alternate poly(A) site on the pre-mRNA that leads to generation of isoforms of various length. In cancer, APA is emerging as an alternative mechanism for proto-oncogene activation in the absence of somatic mutations. Recent studies show a correlation of APA profiles with cancer prognosis, suggesting that APA is an important mechanism of cancer progression. In addition, environmental exposures such as temperature and exogenous hormones can also induce APA as a stress-response mechanism.

In this webinar, Dr. Adriana Zingone of the National Cancer Institute, Center for Cancer Research discusses her team's work to characterize APA in the lung cancer transcriptome and to test a hypothesis that smoking modulates differential usage of polyadenylation sites within mRNA transcripts.

Sponsored by
Thu
Jun
14
11:00 am2018
Sponsored by
Sophia Genetics

Overcoming Challenges in Hematological Genomic Testing with Advanced AI

Genome Webinar

Assistant Professor, UNC School of Medicine

Clinical Application Product Manager, Sophia Genetics

This webinar discusses an effort underway at the University of North Carolina Medical Center's to overcome limitations in the hematological genomic testing workflow with artificial intelligence (AI) from Sophia Genetics.

In the first part of this webinar, Dr. Nathan Montgomery of the UNC Medical Center discusses the rigorous evaluation his lab performed to evaluate Sophia Genetics Myeloid Solution against the overall performance of other vendors' solutions.

The Myeloid Solution is a molecular application that bundles Sophia AI with a capture-based target enrichment kit and full access to Sophia DDM platform. The application is designed to accurately characterize the complex mutational landscape of relevant hematological disorders associated with leukemia, myelodysplastic syndromes, and myeloproliferative neoplasms.

Dr. Montgomery first explains the limitations and challenges of the current myeloid test workflow, and the rationale for the group's decision to evaluate other solutions, including the need to perform orthogonal testing of genes with high GC content such as CEBPα. Then, he will lay out the strategy he and his group applied to objectively assess the overall strengths and weaknesses of each technology. Finally, Dr. Montgomery presents his team's conclusions and the reasons they decided to work with Sophia Genetics.

In the second part of this webinar, Dr. Montgomery gives an update on UNC Medical Center's progress with in-house validation and the lab's next steps.

In the last part of the webinar, Dr. Alexander Kurze of Sophia Genetics briefly introduces a solution that will be soon available to test for gene fusions in hematological diseases.

Sponsored by
Tue
May
22
11:00 am2018
Sponsored by
Thermo Fisher Scientific

From Qualitative to Quantitative: Experiences with a cfDNA Assay in Metastatic Breast Cancer

Genome Webinar

Postdoctoral Scholar, Kuhn/Hicks Laboratory, USC Michelson Center for Convergent Biosciences 

In this webinar, the third in the “New Frontiers in Liquid Biopsy Research” series, Dr. Liya Xu of the University of Southern California Michelson Center for Convergent Biosciences discusses her team’s work using liquid biopsy technology for breast cancer research.

In particular, Dr. Xu presents her team’s experience establishing the Ion Torrent Oncomine Breast cfDNA Assay v2 at USC, including installation of the sequencing instruments. This new workflow for quantitative evaluation of cell-free DNA is an expansion of the team’s existing HD-SCA (high-definition single cell analysis) workflow and an update of the previous qualitative Ion AmpliSeq Cancer Hotspot Panel pipeline.

Dr. Xu presents data from liquid biopsy research samples from metastatic breast cancer, demonstrating integration of analytical variables of cfDNA samples obtained from the Oncomine Breast cfDNA assay v2 and genomic analysis and protein marker data from single circulating tumor cells. An overarching application of this work is to provide a more comprehensive understanding of the disease.

For information on all webinars in this series, click here.

Sponsored by