Genomenon Webinars

Learn from the experts in genomics

UPCOMING WEBINAR

Unraveling Genomic Complexity: Expert Insights into Variant Curation & Interpretation
June 6, 2024 | 11:00AM EST

In this webinar, experts from the Genomenon Curation team will discuss Genomenon’s approach to variant curation. Drawing on their extensive experience in the life sciences industry, the team will outline how technology and expert review is brought together to expedite variant curation while still focusing on comprehensiveness and accuracy of insights.

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<h5>UPCOMING WEBINAR</h5><h4></h4><h5><b>Unraveling Genomic Complexity: Expert Insights into Variant Curation & Interpretation</h5> </b>June 6, 2024 | 11:00AM EST

Latest Event Presentations

ACMG 2024

Scientific Platform and Exhibit Theater Presentations
March 2024 | Toronto, Ontario

Watch Founder and CSO, Dr. Mark Kiel present: Comprehensive Identification of Gene-Disease Relationships Across the Clinical Exome Through Systematic Literature Review and Parallelized Evidence Curation, and see members of the Genomenon team speak on, ‘The Fully Curated Human Genome’.

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<h5>Latest Event Presentations</h5><h4><em>ACMG 2024</em></h4><h5><b>Scientific Platform and Exhibit Theater Presentations</h5> </b>March 2024 | Toronto, Ontario

Latest Webinar

Rare Perspectives Roundtable

The End of VUS? Impact on Diagnosis and Treatment of Rare Diseases
Wednesday, February 28

Watch this virtual fireside chat with visionaries who are shaping the future of rare disease drug development and patient advocacy.

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<h5>Latest Webinar</h5><h4><em>Rare Perspectives Roundtable</em></h4><h5><b>The End of VUS? Impact on Diagnosis and Treatment of Rare Diseases</h5> </b>Wednesday, February 28

Previous Webinars

Ask the Masterminds: Leveraging Literature for Effective Variant Curation

In this freeform online event, we’ll welcome two of our variant curation specialists and our Mastermind expert, Denice Belandres, to share our high quality variant curation process and how Mastermind helps clinical labs handle this increased volume and complexity of genomic information.

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<h4>Previous Webinars</h4><h5><b>Ask the Masterminds: Leveraging Literature for Effective Variant Curation</h5> </b>

Mastermind Masterclass: Gene Information Page

In this webinar, Mastermind experts demonstrate the new Gene Information Page, which puts comprehensive gene information and ACMG gene-wide parameters for variant interpretation at the fingertips of genomic scientists, and demonstrate how it provides a holistic view of gene information for rapid decision-making, especially for exomes/genomes and large panels.

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<h5><b>Mastermind Masterclass: Gene Information Page</h5> </b>

It Takes a Village: Developing Treatments for Rare Disease

In this Rare Perspectives roundtable discussion, our panelists discuss the unique challenges that orphan drug developers face as they decide which rare disease programs to pursue, and grapple with broad spectrums of disease, identifying targets and biomarkers, and lack of disease awareness in the patient and clinical communities.

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<h5><b>It Takes a Village: Developing Treatments for Rare Disease</h5> </b>

Ask the Masterminds:
Office Hours

In this webinar, we invite you to step virtually into the office of the Mastermind team and ask your burning questions about anything Mastermind. This is a freeform event, where our Mastermind experts will answer user questions and demonstrate how to use Mastermind to interrogate the published genomic literature without missing evidence and wasting time.

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<h5><b>Ask the Masterminds: <br>Office Hours</h5> </b>

Interpreting Splice Variants: Contemporary Classification Tools and Methods

In this webinar, we are joined by Randi Rawson, PhD of Myriad Genetics who explores how interpreting splice variants represents a unique challenge in hereditary cancer genes and directly impacts patient risk mitigation and care.

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<h5><b>Interpreting Splice Variants: Contemporary Classification Tools and Methods</h5> </b>

Prognosis and Potential: How POLE and PIK3R1 Are Changing How We Approach Endometrial Cancer

In this webinar, guest speakers from Intermountain Health discussed their use of precision genomics to sequence and analyze patient tumors, and presented in-depth findings on PIK3R1 and POLE in the context of endometrial cancer gleaned through the literature using the Mastermind Genomic Search Engine as part of their workflows.

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<h5><b>Prognosis and Potential: How <em>POLE</em> and <em>PIK3R1</em> Are Changing How We Approach Endometrial Cancer<h5> </b>
ASK THE MASTERMINDS: USER GROUP Q&A

CLINICAL

In this special virtual User Group event, three Mastermind experts demonstrate how to use Mastermind’s powerful features to get answers quickly.

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A PRECISION MEDICINE ROADMAP FOR RX AND CDX CO-DEVELOPMENT AND REGULATORY APPROVAL IN JAPAN

PHARMA

In this webinar, guest speaker Dr. Susanne Rhoades of Loxo@Lilly discusses co-developing precision therapies and companion diagnostics, including challenges encountered when applying for co-approval in Japan and how they used AI-powered genomic knowledgebases to make risk and benefit decisions.

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CURATING THE HUMAN GENOME TO ADVANCE EARLY IDENTIFICATION OF RARE DISEASES

CLINICAL

In this webinar, Mark Kiel, MD, PhD, and Brittnee Jones, PhD discuss how current approaches of interpreting variants one-by-one are impractical when it comes to screening newborns with whole genome sequencing – and how a unique combination of AI-driven technology and expert scientific review has emerged as the only viable way to curate all variants in the human genome.

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USING MASTERMIND’S NEW CLINVAR INTEGRATION TO ACCELERATE CLINICAL DIAGNOSIS

CLINICAL

In this live webinar, Genomenon’s CSO, Dr. Mark Kiel and Product Quality Manager, Anna McGill, demonstrate how to how to streamline variant interpretation workflow within a single easily searchable interface and more.

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OVERCOMING CHALLENGES OF CNV SEQUENCE VARIANT INTERPRETATION IN THE CLINICAL LAB

CLINICAL

In this live webinar, Kai Lee Yap, PhD, FACMG, and Brittnee Jones, PhD illustrate, with real-world clinical cases, how CNV and sequence variant interpretation challenges have been positively impacted by the Mastermind Genomic Search Engine.

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ASK THE MASTERMINDS: ACMG CLASSIFICATION FOR RARE DISEASE

CLINICAL

In this webinar, Jeffrey Bissonnette and Lauren Chunn demonstrate how Mastermind can be used to efficiently score germline variants according to ACMG/AMP criteria, and describe the data-driven certainty that Mastermind creates for rare disease clinicians building patient care plans.

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CURATING THE GENOME TO DRIVE PRECISION DIAGNOSIS IN CLINICAL CARE

CLINICAL | PHARMA

In this webinar, CSO Dr. Mark Kiel explains how a combination of AI-based indexing and expert, manual review is used to produce disease-specific curated content. Dr. Kiel also talks about ENPP1 Deficiency and how it is diagnosed and treated, and how integration of disease-specific curated content into the variant interpretation workflow can increase diagnostic and treatment rates.

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AI IN DRUG DISCOVERY, BIOMARKER DEVELOPMENT AND ADVANCED R&D

PHARMA

The primary goal of this webinar was to give a complete picture of the industry environment in terms of AI usage in drug discovery, clinical research, and other elements of pharmaceutical research and development. This comprehensive overview presented trends and insights in the form of mindmaps and infographics, and benchmarked the performance of key players who shape the industry’s space and relationships.

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CURATING THE GENOME TO DRIVE PRECISION DIAGNOSIS IN CLINICAL CARE FOR RARE DISEASE | ACMG 2022

PHARMA

Speakers from Inozyme Pharma and Genomenon discuss how to surmount obstacles related to translating sequencing data into actionable results, and present Genomenon’s comprehensive curated variant content as the approach for accelerating rare disease diagnostic workflows and connecting patients to clinical studies and approved therapies.

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MASTERMIND MASTERCLASS: SEARCH COMPANION FOR CHROME

CLINICAL

In this Masterclass, Genomenon’s chief technology officer Steve Schwartz and director of customer success Dr. Brittnee Jones will demonstrate the functionality of Search Companion and the benefits it provides for anyone wishing to take genomic variant research and interpretation to the next level.

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ASK THE MASTERMINDS: INSIDER TIPS AND TRICKS FOR GETTING THE MOST OUT OF MASTERMIND

CLINICAL

In this guided training, an expert curator and an experienced variant scientist demonstrate how they utilize the Mastermind Genomic Search Engine to rapidly classify variants with all relevant evidence. Driven by common questions from users, they highlight helpful tips and tricks for navigating the medical literature—so that you get the most out of your data.

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LOCUS-SPECIFIC PATIENT DATABASES FOR RARE DISEASE: A COMPUTATIONAL APPROACH

PHARMA

In this webinar, Genomenon’s Chief Science Officer, Dr. Mark Kiel was joined by Dr. Gus Khursigara, VP of Medical Affairs and Clinical Strategy at Inozyme Pharma to discuss how a computational approach to curation of medical evidence has emerged as an efficient and economical method to systematically identify and analyze all reported cases of a rare disease and interpret all associated genetic variants.

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DNA TODAY PODCAST | MARK KIEL ON ALS GENETICS

PHARMA

In this episode of the DNA Today podcast we explore the genetics of ALS with Mark Kiel, the Chief Science Officer of Genomenon. Watch the interview to learn more about Genomenon and the findings from their comprehensive Genomic Landscape for ALS, new data on the prevalence of gene mutations in ALS, and more.

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GENOMIC BIOMARKER SELECTION FOR COMPANION DIAGNOSTIC DEVELOPMENT

PHARMA

In this webinar, expert panelists from Gilead Sciences, Illumina, Loxo Oncology, and Taiho Oncology will explore the utility of comprehensive Genomic Landscapes for precision medicine in oncology. Drawing on a wealth of experience in the oncology CDx space, our speakers will highlight the current applications, upcoming trends, and future challenges of CDx development in the modern precision medicine era.

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VARIANT INTERPRETATION CHALLENGES & USE CASES | LEVERAGING MASTERMIND IN THE CLINICAL LAB

CLINICAL 

In this webinar, Dr. Dan Bellissimo, Director of the Clinical Genomics Laboratory at the University of Pittsburgh Medical Center (UPMC) presents a variety of clinical cases and workflows that illustrate how these variant interpretation challenges have been addressed by the Mastermind Genomic Search Engine to reduce turnaround time, increase diagnostic yield, and accelerate throughput.

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ESHG 2021 | CLINICAL PERSPECTIVES: OPTIMIZED VARIANT INTERPRETATION WITH THE MASTERMIND GENOMIC SEARCH ENGINE

CLINICAL 

Watch our ESHG 2021 corporate satellite presentation where Nisa Esen of Acibadem Labgen in Turkey and Ariana Gonzalez of Héritas in Argentina share real-world cases where use of the Mastermind Genomic Search Engine led to more informed diagnosis and treatment decisions.

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CONSOLIDATED APPROACH FOR THE INTERPRETATION OF HEREDITARY CANCER VARIANTS

CLINICAL 

In this webinar, Laura Semenuk, MSc, MLT, of Kingston Health Sciences Centre shows you how Alamut Visual Plus has the computational power to pull data sources together, allowing for a consolidated and consistent approach to genomic variant interpretation in the context of hereditary cancers.

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THE EMERGENCE OF AI-GUIDED GENOMICS TO ACCELERATE VARIANT INTERPRETATION

CLINICAL 

In this live expert discussion, we discussed high-level industry challenges associated with genetic variant interpretation, the emerging role of AI and machine learning-assisted technology in genomics, and recent findings surrounding the implications of novel computational genomic intelligence platforms.

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STREAMLINING GENETIC DIAGNOSIS AND TREATMENT PLANS FOR RARE DISORDERS AND PEDIATRIC CANCER PREDISPOSITION

CLINICAL

In this Children’s Hospital genomics roundtable discussion, experienced laboratory directors and clinicians gathered from a variety of institutions leading the charge in pediatric genomics research, including St. Jude Children’s Research Hospital, Children’s Hospital of Colorado, Nationwide Children’s Hospital, and Memorial Sloan Kettering Cancer Center.

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ACMG 2021 | CLINICAL PERSPECTIVES: OPTIMIZED VARIANT INTERPRETATION WITH THE MASTERMIND GENOMIC SEARCH ENGINE

CLINICAL 

At the ACMG Product Theater, Dr. Andreas Laner of MGZ Medical Genetics Center and Dr. Pippa Grainger of Auckland Hospital share real-world cases where use of the Mastermind Genomic Search Engine led to more informed diagnosis and treatment decisions.

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MASTERMIND MASTERCLASS: GENOMIC ASSOCIATIONS INTERFACE

CLINICAL 

In this Mastermind Masterclass webinar, Genomenon co-founders Dr. Mark Kiel and Steve Schwartz, are joined by Elizabeth Varga, Director of Customer Success, who introduced this exciting new functionality, as well as explored how Genomic Associations can best serve you and your variant interpretation goals.

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HOW GENETICS IS BEING USED TO DRIVE DRUG DISCOVERY & DEVELOPMENT

PHARMA

In this panel discussion, precision medicine executives from Rhythm Pharmaceuticals, Alexion, and Biogen explore the deep and invaluable connection between drug development and genomics – and how they are driving innovation with genomic knowledge within Pharma.

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THE COMPREHENSIVE AI-DRIVEN GENOMIC LANDSCAPE FOR ALS – IMPLICATIONS FOR DRUG DISCOVERY AND DEVELOPMENT

PHARMA

Genomenon Co-Founder and Chief Science Officer, Mark Kiel, MD, PhD, was a featured speaker at the 4th Annual Drug Discovery & Development Virtual Conference hosted by LabRoots. Dr. Kiel presented the results of Genomenon’s curation efforts and what it may mean for improving ALS diagnosis and treatment.

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THE CHALLENGE OF VARIANT INTERPRETATION: LEVERAGING GENETIC AND CLINICAL EVIDENCE TO IMPROVE THE DIAGNOSIS OF RARE DISEASES

CLINICAL 

In this webinar, speakers from Limbus Medical Technologies, MGZ, and Genomenon shared their perspectives on what is necessary to successfully accept challenges in clinical routine and what tools are available and needed to accelerate and improve the diagnostic process.

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RAPID WGS: HOW RADY CHILDREN’S INSTITUTE IS INCREASING DIAGNOSTIC YIELD AND IMPROVING OUTCOMES

CLINICAL 

Dr. Stephen Kingsmore, President and CEO of Rady Children’s Institute for Genomic Medicine, gives an executive overview of the two-time world-record-setting Rady rWGS method, followed by a deeper examination of the institute’s analysis and interpretation pipeline by Dr. Katarzyna (Kasia) Ellsworth. The presentation included a demonstration of the Rady literature curation process that is powered by the Mastermind Genomic Search Engine.

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NSGC GENOMIC TECHNOLOGIES & HEALTH IT SIG WEBINAR SERIES: AI 101

CLINICAL 

This webinar titled, Artificial Intelligence (AI) 101, hosted by the National Society of Genetic Counselors welcomed guest speaker Dr. Mark Kiel, co-founder and Chief Science Officer at Genomenon. Attendees learned about the fundamentals of Artificial Intelligence and its implication in medical genomics—now and in the future.

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MASTERMIND MASTERCLASS: CNV SEARCH

CLINICAL | PHARMA

Co-founders Dr. Mark Kiel and  Steve Schwartz take a use-case approach to highlighting the new CNV capability and showcase the benefits that Mastermind can provide to cytogeneticists and variant scientists.

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MASTERMIND MASTERCLASS: GENOMIC ASSOCIATIONS

CLINICAL | PHARMA

Co-founders Dr. Mark Kiel and Steve Schwartz describe how to harness the power of comprehensive evidence-based data for use in clinical workflows and drug discovery.

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MASTERMIND MASTERCLASS: SENSITIVITY & SPECIFICITY IN GENOMIC SEARCH

CLINICAL | PHARMA

Co-founders Dr. Mark Kiel and Steve Schwartz discuss how Mastermind optimizes specificity and then sensitivity when searching for insight into patient variants and resolving VUSs for optimal diagnostic yield. 

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BIG DATA FOR RARE DISEASE: COMPREHENSIVE GENOMIC LANDSCAPES TO ACCELERATE DRUG DEVELOPMENT

PHARMA

Dr. Mark Kiel uses real-world examples to demonstrate how Mastermind Genomic Landscapes have empowered pharmaceutical researchers and translational teams to understand rare diseases at the molecular level.

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MASTERMIND MASTERCLASS: ACMG/AMP CLASSIFICATION

CLINICAL

Co-founders Dr. Mark Kiel and Steve Schwartz lead a live discussion and demonstration of the ACMG/AMP filtering process in the Mastermind Genomic Search Engine.

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INCREASING CASE THROUGHPUT WITH IMMEDIATE INSIGHT INTO CLINICALLY RELEVANT EVIDENCE

CLINICAL

Congenica’s Helen Savage and Dr. Mark Kiel reveal how a combination of new tools is enabling you to instantly identify and analyze genetic evidence found across the complete corpus of scientific articles.

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COMPREHENSIVE GENOMIC ASSOCIATION DATA FOR GENETIC VARIANT INTERPRETATION

CLINICAL | PHARMA

At this LabRoots Virtual Event, Dr. Mark Kiel presented how Genomenon’s approach to Big Data and Artificial Intelligence allow the variant scientist to understand genomic associations across the entirety of the empirical evidence from the medical literature.

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MASTERMIND MASTERCLASS: THERAPIES

CLINICAL

The Mastermind Genomic Search Engine now includes the ability to search the genomic literature by therapy. Co-founders Dr. Mark Kiel and Steve Schwartz led a virtual guided tour of the new Therapies search feature and live Q&A.

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GAINING INSIGHT INTO KNOWN AND NOVEL THERAPIES TO DRIVE DRUG DISCOVERY

PHARMA

Dr. Mark Kiel demonstrates how therapeutic associations between diseases, genes, variants, and phenotypes are a powerful tool in drug development.

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MASTERMIND MASTERCLASS: HUMAN PHENOTYPE ONTOLOGY

CLINICAL

With the release of version 2.0, the Mastermind Genomic Search Engine now includes the ability to search the genomic literature by phenotype. Co-founders Dr. Mark Kiel and Steve Schwartz lead a virtual guided tour of the new HPO search feature and live Q&A.

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USING GENOMICS TO ACCELERATE DRUG DEVELOPMENT FOR NEURODEGENERATIVE DISEASES

PHARMA

In this webinar, Dr. Mark Kiel uses real-world examples to demonstrate how a Comprehensive Genomic Landscape for a disease, pathway or gene set has empowered Pharmaceutical researchers and translational teams to understand genetic and rare diseases at the molecular level.

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GENOMIC LANDSCAPES: LEVERAGING GENETIC EVIDENCE THROUGHOUT THE PHARMA PIPELINE

PHARMA

At the 2020 LabRoots Genetics Virtual Week, Dr. Mark Kiel presented how Genomenon provides invaluable insight into the genomic drivers of disease and an understanding of the molecular drivers that influence all aspects of the drug development pipeline.

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RADY CHILDREN’S INSTITUTE FOR GENOMIC MEDICINE – ASHG 2019 COLAB

CLINICAL

At the 2019 American Society of Human Genetics (ASHG) Annual Meeting, Dr. Kasia Ellsworth of Rady Children’s Institute for Genomic Medicine presented at the Genomenon CoLab Session: “Automated Literature Curation and Variant Interpretation Pipelines with Mastermind following rWGS within the Pediatric ICU – the RCIGM Experience”.

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UNIVERSITY OF PITTSBURGH MEDICAL CENTER – ASHG 2019 COLAB

CLINICAL

At the 2019 American Society of Human Genetics (ASHG) Annual Meeting, Dr. Daniel Bellissimo of the University of Pittsburgh Medical Center Clinical Genomics Laboratory presented at the Genomenon CoLab Session: “Mastermind: Advanced Literature Searching to Aid Variant Classification”.

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HOW TO LEVERAGE THE GENOMIC LANDSCAPE TO ACCELERATE PRECISION MEDICINE

PHARMA

Realizing the promise of Precision Medicine requires both a deep understanding of the genomic evidence and an understanding of the molecular drivers that influence the drug development pipeline. In this webinar, Founder & CSO Dr. Mark Kiel discussed the vital role that genomics plays in the pharmaceutical development process.

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3 SIMPLE STEPS TO DIAGNOSE RARE DISEASES IN MINUTES

CLINICAL

Drs. Cyrielle Kint from Diploid and Mark Kiel from Genomenon introduce us to Moon and demonstrate how the integration with Mastermind allows you to easily assess related variants that have been reported in literature.

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DRUG DISCOVERY IN THE AGE OF GENOMICS

CLINICAL | PHARMA

Currently, only 10% of drug therapies actually reach patients because the genetic mechanisms of disease and their consequences for drug action are not well understood. In this webinar, genomics experts Drs. Mark Kiel and Alex Joyner describe the deep and invaluable connection between therapeutics development and genomics, and how to obtain and use NGS data to improve outcomes.

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REAL-WORLD EXAMPLES OF EFFICIENCY IN GAINS IN THE ANALYSIS & INTERPRETATION OF GENOMIC DATA

CLINICAL

In this webinar, Dr. Mark Kiel welcomed our guest Dr. Eva Serra, who demonstrated Congenica, a way to overcome challenges in the analysis, interpretation and reporting of complex genomic data with an all-in-one solution that optimizes process efficiency from raw data to report.

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MAPPING THE GENOMIC LANDSCAPE TO ACCELERATE PRECISION DRUG DEVELOPMENT

CLINICAL | PHARMA

Rhythm Pharmaceuticals and Genomenon discuss their efforts to assemble a database of mutations associated with rare genetic disorders of obesity, and how this was optimized to facilitate a deep understanding of the variant landscape of melanocortin-4 receptor (MC4R)-pathway genes.

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MINING GENOMIC LITERATURE FOR VARIANT INTERPRETATION AND GENE PANEL DESIGN

CLINICAL

Watch an expert panel discuss how they used the new Mastermind Genomic Search Engine to mine the full text of the genomic literature for two key applications: variant interpretation and the development of evidence-based diagnostic gene panels.

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CHARACTERIZING TARGETED CANCER THERAPIES VIA A COMPREHENSIVE GENE FUSION DATABASE

CLINICAL | PHARMA

Genomenon has developed the most comprehensive database of gene fusion pairs found within the scientific literature. This complete literature catalogue for the 507 genes from the Illumina TruSight RNA Fusion Panel contains all known fusion pairs, with reference citations for every scholarly paper citing the chimeric genes.

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ACCELERATING PATIENT DIAGNOSIS WITH AUTOMATED LITERATURE CURATION FOR INHERITED DISEASE

CLINICAL | PHARMA

Dr. Mark Kiel and Veritas Genetics VP of Clinical Affairs Birgit Funke discuss an approach for automating variant classification based on the American College of Medical Genetics and Genomics guidelines.

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IS GENOMIC MEDICINE READY FOR AI?

CLINICAL | PHARMA

Genome sequencing promises to improve diagnostic accuracy and patient outcomes in both oncology and genetics, but the volume and complexity of the data requires a significant manual process to ensure high-quality interpretation. Dr. Mark Kiel offers insight on Artificial Intelligence and its impact on Genomic Medicine.

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AUTOMATED BIOMARKER SELECTION FOR EVIDENCE-BASED GENE PANEL DESIGN

CLINICAL

Dr. Mark Kiel presents the biomarker selection process and results for the first comprehensive evidence-based Pan-Hematopoietic Malignancy Gene Panel using the Mastermind Genomic Search Engine.

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