Genomenon Webinars

Learn from the Experts in Genomics

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Mastermind Masterclass: Human Phenotype Ontology (HPO)

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

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<h2><b>Next Webinar</h2> </b><Br> <h4><i>Mastermind Masterclass: Human Phenotype Ontology (HPO)</h4></i><br>

Using Genomics to Accelerate Drug Development for Neurodegenerative Diseases

In this webinar, Dr. Mark Kiel used 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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How to Leverage the Genomic Landscape to Accelerate Precision Medicine

Realizing the promise of Precision Medicine requires both a deep understanding of the landscape of genomic evidence and an understanding of the molecular drivers that influence all aspects of 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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Rady Children’s Institute for Genomic Medicine – CoLab Presentation – ASHG 2019

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 Clinical Genomics Laboratory – CoLab Presentation – ASHG 2019

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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Real-World Examples of Efficiency Gains in the Analysis & Interpretation of Genomic Data

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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3 Simple Steps to Diagnose Rare Diseases in Minutes

In this webinar, Drs. Cyrielle Kint from Diploid and Mark Kiel from Genomenon introduced us to Moon, and demonstrated 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

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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Characterizing Targeted Cancer Therapies via a Comprehensive Gene Fusion Database

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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Mapping the Genomic Landscape to Accelerate Precision Drug Development

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

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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Automated Biomarker Selection for Evidence-Based Gene Panel Design

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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Accelerating Patient Diagnosis with Automated Literature Curation for Inherited Disease

Dr. Mark Kiel and 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 A.I.?

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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