11:00 am2018
Sponsored by

A Practical Guide to Clinical Genomics Assay Validation

Genome Webinar

Gnosity Consults

SeraCare Life Sciences

This webinar will walk 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 will use real-world examples to highlight how highly multiplexed, patient-like biosynthetic reference materials offer substantial time and cost advantages over traditional materials and methods.

Watch 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

Emery-Dreifuss Muscular Dystrophy Patient Advocate

Head of Lab; Clinical Genomics and Personalized Medicine Specialist,

Deputy Head of Clinical Services,

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 will also discuss 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 will 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

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

This webinar will discuss 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 will present 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

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


This webinar will share 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, will share 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 will show 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.

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 will highlight 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.

Join 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
Recent GenomeWebinars

University of Vermont Health Network

College of Medicine, University of Vermont

Q2 Solutions, a Quintiles Quest Joint Venture


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.

1:00 pm2018
Sponsored by
Thermo Fisher Scientific

Rethinking Healthcare with Better Tools, More Information, and Deeper Analysis

Genome Webinar

Founder & CEO, Sema4

This webinar discusses a predictive, multiscale framework that can be used to understand the health of an individual at the molecular, cellular, organ, organism and community scales in order to better diagnose, treat, and prevent disease at a highly personalized level.

One of the primary goals of precision medicine is the aggregation and interpretation of deep, longitudinal patient-specific data in the context of the digital universe of information, using advanced predictive analytics to better diagnose and treat patients, even down to tailoring individualized treatments.

The rapid advance of panomic technologies such as next-generation DNA sequencing and medical imaging technologies, as well as the vast array of wearable, implantable, and environmental sensors, all linked to personal smart devices, are transforming the scale, scope, and depth of data we can generate on patients.

In this webinar, Eric Schadt, Founder and CEO of Sema4 and Dean for Precision Medicine at the Icahn School of Medicine at Mount Sinai, discusses a predictive, multiscale framework his team has developed to better understand diseases such as coronary artery disease, inflammatory bowel disease, diabetes, asthma health, Alzheimer’s disease, cancer, and several other disease areas in addition to wellness.

In this webinar, Dr. Schadt discusses how his team is evolving this framework to accelerate the engagement of big data and predictive models by patients, physicians, healthcare professionals, and researchers in ways that transform how the medical community diagnoses, treats, and prevents disease.

Sponsored by
1:00 pm2018
Sponsored by
Myriad RBM

A Reproducible Immunomonitoring Method for Multi-Center Clinical Studies

Genome Webinar

Scientific Manager, LabEx Milieu Interieur, Institut Pasteur, Paris

This webinar discusses a standardized whole-blood culture and stimulation system and its application to a range of multi-center immune response studies.

Our speaker, Darragh Duffy, Scientific Manager of the LabEx Milieu Interieur consortium at the Institut Pasteur, shares details of several projects using the TruCulture whole-blood syringe-based system, which permits point-of-care standardized immune stimulation.

Dr. Duffy's team recently completed a multi-center clinical study in seven Federation of Clinical Immunology Societies (FOCIS) Centers of Excellence across Europe to directly compare TruCulture to conventional peripheral blood mononuclear cell (PBMC) methods. The study found that the ex vivo TruCulture procedure preserved physiological cellular interactions to more accurately reflect the complexities of the human immune system.

Dr. Duffy also shares how his team has applied TruCulture stimulation to the 1,000-donor cohort of the Milieu Interieur consortium, the objective of which is to define the boundaries of a healthy immune response at both the proteomic and transcriptomic level.

Dr. Duffy also discusses a partnership with Myriad RBM to co-develop the 13-analyte OptiMAP Luminex panel to enable the dissection of intrinsic (age, sex), genetic, and environmental factors to diverse immune stimuli at the population level.

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