GenomeWebinars

Professor, Hematology, Medical School of Sorbonne University, Paris; Head of the Hematology Laboratory, Saint-Antoine Hospital 

This webinar will share details from a study at the Saint-Antoine Research Center, Sorbonne University to test the feasibility of a high-sensitivity, clone-specific strategy for evaluating minimal residual disease (MRD) in acute myeloid leukemia (AML).

AML is a genetically heterogeneous group of blood malignancies. Some specific translocations or mutations, such as t(8;21), inv(16), or NPM1 mutations, can serve as markers of treatment response, or detection of MRD. However, most AMLs harbor several mutations ordered in time to form the founding clone and subsequent linear or branching subclones. Improving the tools for a clone-specific, multi-target detection of MRD may be of particular importance in the future.

In this webinar, François Delhommeau, of Saint-Antoine Research Center will discuss a research study to test such a strategy in a retrospective cohort of 69 AML cases. Delhommeau and colleagues established the clonal architecture of each AML using standard cytogenetic and molecular assays, as well as targeted next generation sequencing (NGS). From this, they designed a clone-specific strategy based on fluorescent in situ hybridization (FISH) and high-sensitivity NGS (Haloplex HS) to detect chromosomal aberrations and mutations, respectively, in follow-up samples.

The combination of these techniques allowed the team to track chromosomal and genomic lesions down to 0.5% of the cell population in follow-up samples. By using these techniques, they found that 65 out of 69 cases were evaluable at several time points of follow up. Moreover, they observed that initiating events, such as DNMT3A or TET2 mutations, often persist, and appear not to be appropriate markers to predict short term relapse when considered in isolation from other factors. In contrast, the persistence of several lesions in more than 0.4% of the cells from remission samples may be predictive of lower leukemia-free and overall survivals.

Although larger prospective studies are needed to confirm these results, the data that Dr. Delhommeau will share show that a multi-target, clone-specific, minimal residual disease follow-up strategy may be feasible in the vast majority of AML cases.

 

Sponsored by
Thu
Apr
26
11:00 am2018
Sponsored by
Thermo Fisher Scientific

Evaluation of a Pan-Cancer Cell-Free Assay to Meet Unmet Research Needs

GenomeWebinar

Senior Director, R&D Unit, Senior ConsultantMolecular Pathology Unit, University Hospital Basel | Institute for Medical Genetics and Pathology 

In this webinar, the second in the “New Frontiers in Liquid Biopsy Research” series, Luca Quagliata, Senior Consultant in the Molecular Pathology Unit at University Hospital Basel, will share two specific unmet needs within his lab’s liquid biopsy research that led to the eventual evaluation, adoption, and implementation of the latest liquid biopsy Oncomine NGS solutions from Thermo Fisher.

Dr. Quagliata’s lab at University Hospital Basel’s Molecular Pathology Unit has established methodologies for the genomic analysis of circulating cell-free tumor DNA (cfDNA) for lung and colon cancer research. The team’s validated workflow includes cfDNA extraction from plasma followed by next-generation sequencing with commercially available or specific custom-made gene panels and clinical interpretation of results to support their study.

Dr. Quagliata will discuss two challenges that his lab faced with early liquid biopsy assays: 1) they could not detect fusions, and 2) they could not detect mutations from multiple cancer types with one NGS assay. He will share details of how the Ion Torrent Oncomine Lung Cell-Free Total Nucleic Acid Assay addresses the first of these challenges and how the Ion Torrent Oncomine Pan-Cancer Cell-Free Assay addresses the second.

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

Sponsored by
Tue
May
1
1:00 pm2018
Sponsored by
Horizon Discovery

Analytical Validation of a Liquid Biopsy Assay for High-Sensitivity Molecular Profiling

GenomeWebinar

Head of Technology and Assay Development, Inivata

This webinar will provide an in-depth case study demonstrating how reference standards can be used to develop and validate circulating tumor DNA (ctDNA)-based assays.

Our speaker, Samuel Woodhouse, Head of Technology and Assay Development at Inivata, will share his experiences testing and benchmarking technologies capable of detecting a range of cancer alterations at near single-molecule resolution.

Given the minimally invasive nature of ctDNA analysis and the availability of therapies that are targeted against cancers with specific alterations, this approach is quickly transforming cancer care. As patients have been shown to respond to targeted therapies even when the actionable mutations detected in their circulating DNA were present at low variant allele fractions (VAFs) (< 0.5%), highly sensitive methods are required for optimal clinical use. Along with creating technologies able to look for genetic alterations in ctDNA, it is critical to have suitable reference material with known mutational signatures and fragmentation patterns to ensure consistent and accurate assay validation and performance benchmarking.

Inivata’s InVisionFirst Lung is a qualitative laboratory-developed test that uses targeted sequencing to detect single nucleotide variants (SNVs), copy number variants (CNVs), insertions and deletions (INDELs), and structural variants in selected genes from DNA isolated from plasma samples from patients with non-small cell lung cancer (NSCLC). Dr. Woodhouse will discuss how, using Horizon Discovery’s control material as a known reference, InVisionFirst Lung demonstrated outstanding sensitivity for mutation calling and a specificity of 99.9997% per base. He will also share how his team used a custom gene fusion reference standard from Horizon Discovery to show that InVisionFirst Lung is the first amplicon-based ctDNA assay to detect ALK and ROS1 gene fusions. Comparison of VAFs between the InVisionFirst assay and the Horizon Reference Standard showed excellent concordance (R2 = 0.965).

Sponsored by

Senior Research Scientist, New York Genome Center’s Technology Innovation Lab

Resident Physician, Department of Anatomic Pathology, division of Neuropathology, University of California San Francisco

This webinar will introduce new technologies that enable multidimensional measurements from single cells to obtain a more complete picture of a cell’s phenotype and gene expression.

The first part of the webinar will describe two recently developed applications that use antibody conjugated oligos to enhance existing single-cell RNA-seq platforms: CITE-seq (Cellular Indexing of Transcriptomes and Epitopes by Sequencing), which allows measurement of a potentially unlimited number of protein markers in parallel to transcriptomes; and Cell Hashing, which enables sample multiplexing, robust multiple detection, and super-loading of scRNA-seq platforms, allowing confident recovery of four times as many single cells per experiment.

The second part of the webinar will cover the recently developed Patch-seq technique, which combines whole-cell patch clamp recording, immunohistochemistry, and single-cell RNA-sequencing to obtain high-quality morphology, electrophysiology and scRNA-seq data in parallel from single cells.

Our expert panelists will present an overview of the key protocol steps and quality control measures, as well as a discussion of potential applications and ongoing efforts to increase throughput.

Sponsored by
Tue
May
8
1:00 pm2018
Sponsored by
Dovetail Genomics

Structural Variation Detection by Proximity Ligation from FFPE Tumor Tissue

GenomeWebinar

Instructor, Department of Pathology & Biomedical Data Science,
Stanford Medical School

Director of Product Management, Dovetail Genomics

This webinar will discuss a proximity ligation-based method for studying structural variation in formalin-fixed paraffin-embedded (FFPE) tissue.

FFPE tissue produces highly fragmented, low-molecular weight nucleic acids, presenting a principal challenge to identifying relevant genetic variants with tumor sequencing. This sub-optimal input specimen was previously not thought to contain long-range (Mbp+) information needed to accurately and robustly identify balanced and unbalanced large-scale structural variation and phasing from these specimens.

This webinar will highlight a proof-of-concept study for using Hi-C chromosome conformation capture methodology for FFPE tissue, called Fix-C, which yields phased read pairs spanning distances up to full chromosomes and enables unambiguous structural variation detection and variant phasing in archival specimens.

Join this webinar to:

  • Learn how proximity ligation technology works and proven applications for this multi-dimensional NGS datatype from structural variation detection to genome assembly
  • See how proximity ligation overcomes the main challenge of highly fragmented DNA for studying structural variation from FFPE samples with data from a proof of concept study
Sponsored by

Head of Molecular Biology and Cell Engineering, Cerevance

Product Manager, NuGEN

This webinar will highlight the use of high-throughput sequencing of post-mortem human brain tissue to identify neurodegenerative markers and identify potential drug targets.

Dr. Steve Sheardown, Head of Molecular Biology and Cell Engineering at pharmaceutical company Cerevance, will discuss a technology platform  called NETSseq (Nuclear Enriched Transcript Sort sequencing). Cerevance uses NETSseq to interrogate the molecular diversity of individual neuronal cell types in human tissue to understand their genetic complexity, the contribution that each of these make to circuit function, and, in the context of brain disorders, their potential for therapeutic intervention.

Cerevance is building an extensive collection of transcriptomes from cell types selected for relevance to human disease covering both sexes and spanning different ages from donor samples obtained from diseased populations. Since commencing clinical data collection in October 2017, Cerevance have already accumulated over 1,300 high quality individual transcriptomes. Using this unique resource, the company aims to identify and pursue novel drug targets to address areas of high unmet medical need within the field of central nervous system disorders.

Dr. Sheardown will discuss how his team has transformed NETSseq from a low-throughput proof of concept to a robust high-throughput process for generating deep sequencing libraries from limited quantities of fixed post-mortem tissue. To achieve this, Cerevance has rigorously tested a range of products at every stage of the process, focusing on yield, quality, reproducibility, and automatability.

Drawing on examples from the company's transcriptome dataset, Dr. Sheardown will illustrate the depth of information that his team can generate using its NETSseq platform.

Sponsored by
Tue
May
15
11:00 am2018
Sponsored by
Tecan

Reaping the Benefits of Algorithm-Driven Research in Synthetic Biology

GenomeWebinar

Co-Founder & CEO, LifeFoundry

This webinar will discuss how an algorithm-driven synthetic biology system can enable engineering of biological systems for a range of applications.

Synthetic biology applies engineering principles to study biological systems through design-build-test cycles and offers great promise for applications in healthcare, the biochemical industry, as well as fundamental discovery. However, the workflows are still mainly driven by human scientists, making it slow, expensive, and prone to human error and biases.

Our speaker, Ran Chao of the University of Illinois, will share details of a fully automated and highly versatile biological foundry that allows algorithms to directly design biosystems, orchestrate workflows, and analyze data. Dr. Chao will discuss the latest applications of algorithm-driven synthetic biology at the University of Illinois as well as at LifeFoundry, a synthetic biology startup. He will also share applications of Tecan liquid handling systems in high-throughput TALEN (transcription activator-like effector nucleases) synthesis as well as rapid strain development processes.

Sponsored by

Professor, Dept of Clinical Genetics, Uppsala University Hospital, Sweden

This webinar will discuss how streamlined selection of library preparation, data analysis, and variant assessment workflows can make next-generation sequencing readily accessible for labs studying inherited disorders, particularly in cases where data analysis is currently a bottleneck.

Our speaker, Professor Marie Louise Bondeson of Uppsala University, from the department of Clinical Genetics, will share her lab’s experience building an NGS research workflow comprising gene panel testing, exome sequencing, and data analysis.  

Dr. Bondeson’s team has evaluated the SureSelect Custom Constitutional Panel 17Mb (CPP17) for implementation of gene panel testing. The CPP focuses only on genes with known disease associations. For whole-exome sequencing, her lab has evaluated SureSelect Human All Exon v7, which is a comprehensive exome that focuses on the interpretable part of the genome.

Dr. Bondeson will describe how her team analyzed the NGS data with an in-house bioinformatics pipeline and then compared that with Alissa Align & Call. Filtration and variant interpretation was performed using Alissa Interpret according to the lab’s workflow.

 

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 Research

GenomeWebinar

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 will discuss her team’s work using liquid biopsy technology for breast cancer research.

In particular, Dr. Xu will present 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 will present 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
Tue
Jun
12
1:00 pm2018
Sponsored by
Philips Genomics

Bridging the Gap Between Testing and Treatment in Precision Oncology

GenomeWebinar

Chief Technology Officer, Navican

Chief Technology Officer, Philips Genomics

This webinar will highlight a comprehensive end-to-end solution for precision care in oncology, comprising sample acquisition through to sequencing and analysis, treatment recommendations, and follow-through.

Scott Skellenger, chief technology officer of Intermountain Healthcare spinout Navican, will discuss the infrastructure Navican has put in place to match patients with prioritized treatment options in order to deliver better outcomes while reducing the overall cost burden on the healthcare system.

Navican's services assist oncologists and their patients throughout the process of acquiring and profiling a tumor sample, reviewing the case and making a prioritized treatment recommendation with the molecular tumor board, facilitating therapy access and appeals, and ongoing patient follow-up.

Navican has partnered with Philips to leverage IntelliSpace Genomics as the hub of its clinical and informatics infrastructure. Scott will discuss how Navican is using IntelliSpace Genomics to capture and transform genomic and clinical data in support of providing treatment decisions.

Sponsored by
Wed
Jun
20
11:00 am2018
Sponsored by
PerkinElmer

Expert Tips on Sequencing and Library Prep from the Wellcome Sanger Institute

GenomeWebinar

Senior Staff Scientist - R&D Sequencing, Wellcome Trust Sanger Institute

In this webinar, Michael Quail of the R&D Sequencing team at the Wellcome Trust Sanger Institute will provide an expert perspective on library prep for next-generation sequencing. 

The Sanger Institute is a large-scale biomedical research and genome center funded by the Wellcome Trust. The institute was an early adopter of Illumina sequencing technology and was one of the first labs in the world to automate library prep. 

Dr. Quail will discuss problems and biases that can occur during NGS library prep and ways to avoid them. He will review the various steps in sequencing library construction and discuss how biases in genomic content and sample representation can arise in sequencing libraries. 

Dr. Quail's presentation will include recommendations on how to avoid such biases, resulting in more even sequence coverage and fewer samples with insufficient coverage for meaningful analysis.

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

An Optimized NGS Workflow for Human Metagenomic Analysis

GenomeWebinar

Senior Scientist, Genomic Applications Department, Illumina

This webinar will review 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 will discuss a comparative metagenomics study that relied on a high-throughput and automated library prep protocol for stool. Dr. Czyz will discuss several parameters and methodologies that her team tested as well as the key findings of the study.

Sponsored by
Recent GenomeWebinars
Thu
Apr
12
1:00 pm2018
Sponsored by
PerkinElmer

Applications and Challenges of Using ctDNA as Non-Invasive Tumor Markers

GenomeWebinar

Manager, Scientific Affairs, Agena Bioscience 

Liquid biopsies are becoming increasingly important for the detection of actionable mutations in cancer due to tumor heterogeneity as well as the practical limitations of invasive tissue biopsies. Recent technological developments enable the use of circulating tumor DNA (ctDNA) as cancer biomarkers as a non-invasive complement and potentially even substitute for tissue biopsies.

This webinar discusses the current research applications of ctDNA in cancer detection with potential for improved therapy guidance and monitoring. Critical challenges impeding liquid biopsy analysis and ways to overcome these challenges will also be discussed.

Sponsored by

Laboratory Manager, Central Lab in Igenomix, Valencia (Spain)

Senior Product Manager, Labcyte

This webinar discusses how acoustic liquid handling can reduce the time and costs for labs performing carrier screening with next-generation sequencing.

Pere Mir Pardo of Igenomix provides an overview of his company's Carrier Genetic Test (CGT), which uses NGS to assess a couple's carrier status for 600 Mendelian diseases.

In 2017, Igenomix adopted the Labcyte Echo 525 Liquid Handler for NGS library preparation. Dr. Mir Pardo shares how the new technology has enabled the reduction of the hands-on time for the CGT protocol, ultimately leading to a reduction in costs.

From October 2015 through December 2016, Igenomix analyzed 6,156 samples using the conventional NGS protocol. The Echo system was introduced into the laboratory in January 2017 and from then until July 2017 a total of 4,277 samples were analyzed using the Echo system protocol. Results of both protocols are similar in terms of sensitivity (0.9858) and specificity (0.9997) of mutation detection.

Iain Russell presents an overview of acoustic droplet ejection technology, describe the benefits of acoustic liquid handling for Genomics applications and provide a review of how the Echo is being utilized in for a variety of applications common to Genomics labs.

Attendees of this webinar will gain a deeper understanding of the features and benefits of acoustic liquid handling. Additionally, attendees will learn how NGS-based expanded CGT analysis constitutes a powerful tool to predict risk for Mendelian diseases, as well as how the Echo system makes the test more affordable and widely available to a higher number of patients.

Sponsored by
Tue
Apr
3
1:00 pm2018
Sponsored by
Dovetail Genomics

Enabling Non-Model Organism Genomics with Multi-Dimensional NGS Datatype

GenomeWebinar

PhD Student,
Petrov and Hadly Labs, Department of Biology, Stanford

Director of Product Management,
Dovetail Genomics

Proximity ligation technology generates multi-dimensional next-generation sequencing data that is proving to solve unmet needs in genomic research. Learn about some of the applications for this datatype and specifically how it helps create high-quality assemblies to overcome challenges of working with non-model organism genomes.

This webinar highlights three projects where proximity ligation technology and scaffolding software were used to create high-quality and highly contiguous genome assemblies for different organisms. Our speakers will also discuss the scientific discoveries enabled by these high-quality genome assemblies.

View this webinar to:

  • Learn how proximity ligation technology works and the applications for this multi-dimensional NGS datatype from cancer research to genome assembly
  • Hear how proximity ligation overcomes one of the main challenges of studying non-model organisms: being able to easily generate high-quality and contiguous genome assemblies
Sponsored by
Tue
Mar
27
10:00 am2018
Sponsored by
Thermo Fisher Scientific

Adding CNVs and Fusions to a Lung cfDNA Assay: Impact on Oncology Clinical Research

GenomeWebinar

Head of Pathology, Hospital Del Mar, Spain 

Director, R&D, Clinical Next Generation Sequencing Division, Thermo Fisher Scientific

In this webinar, the first in the “New Frontiers in Liquid Biopsy Research” series, Bea Bellosillo, head of pathology at the Hospital del Mar, discusses her experience evaluating an early-access lung cancer panel that detects copy number variants and fusions.

Dr. Bellosillo’s research lab was previously using the Ion Torrent Oncomine Lung cfDNA Assay from Thermo Fisher when it enrolled as a test site for an early-access program for the new lung panel that detects CNVs and fusions. Preliminary testing with the Oncomine Lung cfTNA (circulating free total nucleic acid) Assay indicated the presence of a RET fusion, which had not been detected previously. The finding led to a retrospective study of that sample where the RET fusion on the primary tumor was confirmed by FISH.

Following Dr. Bellosillo’s talk, Kelli Bramlett, senior director of R&D at the Clinical Next- Generation Sequencing Division at Thermo Fisher Scientific, presents a new white paper that showcases the performance of the new variant types introduced in the Oncomine Lung cfTNA Assay that Dr. Bellosillo was evaluating.

 

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

Sponsored by

Laboratory Specialist, Clinical Genetics, University Medical Center Utrecht (UMCU)

 

This webinar shares how clinical genetics labs can integrate cytogenetics and molecular data to assess abnormalities using a single sample on a single workflow platform.

The current standard of care in genomics diagnostics laboratories is advancing toward array testing and whole exome sequencing on a single sample. Additionally, labs are shifting to the analysis of all molecular events for a patient sample – whether structural (CNVs, deletions, duplications, LOH regions, translocations) or molecular (SNPs, insertions, deletions). Labs do this because they are confident the diagnostic yield of combined CNV / NGS analysis exceeds that of each individual assay type, making 1+1=3.

Moreover, historically, the cytogenetics lab and the molecular lab were separate domains, within different groups at the lab or hospital. Cartagenia Bench Lab software, which was acquired by Agilent in 2015, catered to these different customer types with separate applications. While labs that did both arrays and sequencing could make the modules talk together and collaborate, they were not tightly integrated.

Today, with Alissa Interpret, the next evolution of Cartagenia Bench Lab recently released by Agilent, array data and WES data can now be integrated for a single patient sample, allowing for combined CNV/SNV analysis on a single workflow platform.

In this webinar, Ellen van Binsbergen, a laboratory specialist in clinical genetics at the University Medical Center Utrecht (UMCU) in The Netherlands, shares how Alissa Interpret was used in a case of multiple skeletal abnormalities to assess data from CNV analysis via SNP array and from WES analysis. By jointly triaging, classifying, and curating molecular and structural variants, she shows how UMCU was able to pinpoint variants inherited from the father AND deletions in the maternal allele – all yielded from a single sample, on one platform.

Sponsored by

Assistant Professor, Center for Biomarker Research and Precision Medicine, School of Pharmacy, Virginia Commonwealth University

This webinar discusses an optimized protocol for methyl-CpG binding domain sequencing (MBD-seq), which enables comprehensive, adequately powered, and cost-effective large-scale methylome-wide association studies (MWAS) of almost all 28 million CpG sites in the genome.

Studies of DNA methylation provide a promising route to gain further insight into many complex phenotypes, but detailed biological knowledge linking specific methylation sites to phenotypes is lacking, making MWAS critical. Whole genome bisulfite sequencing (WGB-seq) provides comprehensive coverage of the methylome, but is not yet practically feasible with the sample sizes required for MWAS. This limitation may explain why MWAS is commonly performed using microarray-based technologies, which assay only a very small fraction of the methylome.

Comparisons show that optimized MBD-seq approximates the coverage obtained with WGB-seq, but this performance is achieved at a fraction (~5%) of the reagent costs for WGB-seq, bringing it within the approximate price point of array-based methods. The MBD-seq protocol also allows for as little as 5-50 ng of high-quality genomic DNA as input, which allows for many sample types of limited availability to be assayed.

In this webinar, Karolina Åberg of Virginia Commonwealth University presents findings from MWASs of major depressive disorder and childhood trauma using DNA from brain, whole blood, and blood spots to provide a proof of concept that MBD-seq based MWAS can shed light on disease etiology and identify potential clinical biomarkers.

Sponsored by
Tue
Feb
27
1:00 pm2018
Sponsored by
Congenica

Discovering the Missing Link between my Rare Disease and an Olympic Athlete

GenomeWebinar

Emery-Dreifuss Muscular Dystrophy Patient Advocate

Head of Lab; Clinical Genomics and Personalized Medicine Specialist,
Congenica

Deputy Head of Clinical Services,
Congenica

In this webinar, Jill Viles, an Iowa mother with no clinical training, shares her story of how she self-diagnosed her rare condition, a muscle-wasting disease caused by a mutation in the LMNA gene. She also discusses how she discovered that a mutation in the same gene is the underlying cause for the excess muscle phenotype exhibited by Canadian Olympic hurdler Priscilla Lopes-Schliep. 

Members of Congenica's clinical team also discuss their identification of a potential modifying gene, SMAD7, which may contribute to Jill’s alternative phenotype, and how these are being used to further research the cause of her disease.

This webinar will cover:

  • Jill's steps to discovery and how she first started working with Congenica
  • How Congenica found the potentially modifying variant
  • The SMAD7 gene mutation, and how Sapientia can be used to make similar diagnoses
  • How Jill is acting on this information and looking to the future
Sponsored by
Thu
Feb
22
11:00 am2018
Sponsored by
SeraCare

A Practical Guide to Clinical Genomics Assay Validation

GenomeWebinar

Founder,
Gnosity Consults

CSO,
SeraCare Life Sciences

This webinar walks through key considerations and helpful guidelines to accelerate next-generation sequencing (NGS)-based clinical genomics assay validation for less money and greater confidence in results.

NGS has revolutionized how assay developers, laboratories, and clinicians are diagnosing, treating, and managing disease. But before a clinical genomics assay can help guide patient care, it must be thoroughly validated. While validation principles are universal, the complexities of NGS can make the process a daunting task. In this webinar, clinical genomics expert Dr. Bob Daber uses real-world examples to highlight how highly multiplexed, patient-like biosynthetic reference materials offer substantial time and cost advantages over traditional materials and methods.


View this webinar to learn:

  • Specific ways you can save time and money while thoroughly validating an NGS-based clinical genomics assay
  • Validation best practices from leading clinical genomics laboratories
  • How to navigate the many guidelines and requirements of the various authoritative bodies for clinical genomics testing
Sponsored by
Wed
Feb
21
11:00 am2018
Sponsored by
Oracle Health Sciences

Improved Clinical Decision Support via Integrated Genomic and Clinical Data Sources

GenomeWebinar

Research Scientist,
Mayo Clinic

Field Scientist and Strategist,
Oracle Healthcare

This webinar covers best practices for integrating data from multiple clinical and genomic sources for clinical decision support.

New data sources, technologies, and workflows are being developed and refined to advance clinical decision support and improve patient outcomes, but challenges remain. Research teams today are hampered by the manual effort required to identify, standardize, aggregate, and interpret data. These manual workflows may be manageable during the development of precision medicine programs, but quickly lead to concerns around scaling to meet increasing demand and greater patient numbers.

View this webcast to hear Mayo Clinic’s Research Scientist Jan Egan discuss the value and complexities of compiling data from multiple clinical and genomic sources for clinical decision support. Dr. Egan also shares experiences with standardizing and automating this effort to help clinical and scientific staff in clinical decision support and reporting.

Key takeaways for attendees:

·       An understanding of what data can be used for which decisions with sample use cases

·       Real-world case study insight and best practices for building an environment to leverage omics data for clinical decisions

·       Practical tips for evaluating and selecting a clinical decision support solution

Sponsored by

Assistant Professor of Planetary Science,
Johnson Biosignatures Lab

Postdoctoral Fellow, Johnson Biosignatures Laboratory 

Chair, ABRF Metagenomics Research Group and Extreme Microbiome Project & Manager, Massively Parallel Sequencing Facility, University of Vermont Cancer Center

This webinar discusses the findings of a recent effort to sequence microbial communities in the Dry Valleys of Antarctica, one of the world's most extreme environments.

Receding lakes within the Dry Valleys of Antarctica provide a unique opportunity to study the effects of prolonged desiccation on microbial composition and function. Buried upslope from these lakes are desiccated microbial mats that inhabited the larger paleolakes thousands of years ago. These ancient mats hold insights into adaptations of life to past Antarctic conditions and also present an opportunity to explore the persistence of life in extremely harsh conditions. 

Our panelists share the details of this work. After collecting samples from three Dry Valleys, they extracted DNA using a gentle lysis technique to preserve long reads and a polyenzymatic treatment, developed by the Extreme Microbiome Project, to maximize yields from different cell types. They also recovered RNA from a subset of our paleomat samples. The results of the study demonstrate that cells appear to persist over timescales spanning thousands of years, with implications for our understanding of cell biology, Antarctic microbiology and biogeography, and the limits of life in arid environments.

Viewer can expect to learn: 

- Approaches to extremophile microbiology

- Techniques developed by the Extreme Microbiome Project 

- How new methods and new sequencing technologies like MinION and PacBio may help recover long DNA reads

Sponsored by
Thu
Feb
15
1:00 pm2018
Sponsored by
Genomenon

Mining Genomic Literature for Variant Interpretation and Gene Panel Design

GenomeWebinar

University of Vermont Health Network

College of Medicine, University of Vermont

Q2 Solutions, a Quintiles Quest Joint Venture

Genomenon

In this webinar, an expert panel discusses how they used a genomic search engine to mine the genomic literature for two key applications: variant interpretation and the development of evidence-based diagnostic gene panels.

Nikoletta Sidiropoulos and David Seward from the University of Vermont College of Medicine first discuss their approach and the tools used to quickly and thoroughly mine the scientific literature to interpret variants in somatic cancer cases.

Next, Victor Weigman from Q2 Solutions presents an evidence-based method that his team used to select the content for gene panels by mining millions of full-text genomic articles to identify disease-gene-variant relationships. Dr. Weigman discusses how he created an evidence-based gene panel in under a week with prioritized literature citations for each biomarker.

Finally, Mark Kiel, founder and chief scientific officer of Genomenon, discusses a comprehensive, evidence-based cancer panel that was produced using automated machine learning techniques. The pan-hematopoetic cancer panel is a comprehensive cancer panel of more than 300 genes supported by specific literature citations from among millions of research publications. Dr. Kiel discusses how his team used the Mastermind Genomic Search Engine software to objectively correlate genes and genetic variants with the quality and frequency of scientific literature citations.

Sponsored by