3 Simple Steps to Diagnose Rare Diseases in Minutes Thursday, October 3rd, 2019 2:30 p.m. EDT
In this webinar, Drs. Cyrielle Kint from Diploid and Mark Kiel from Genomenon will introduce you to Moon, and demonstrate how the integration with Mastermind allows you to easily assess related variants that have been reported in literature.
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.Watch the Recording
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.Watch the Recording
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.Watch the Recording
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.Watch the Recording
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.Watch the Recording
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.Watch the Recording
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.Watch the Recording