GC SERIES: Utilizing Artificial Intelligence for Genomic Diagnosis in Precision Medicine

Clinicians and laboratory scientists know that robust literature search is critical to proper genomic variant interpretation, but public sources are incomplete, out of date, and difficult to navigate, leading to wasted time and missed papers. This webinar will demonstrate how the Mastermind Genomic Search Engine addresses these challenges by using Artificial Intelligence (AI), Genomic Language Processing (GLP), and an innovative technique based on Genomic Associations to identify all of the literature essential to understanding variant pathogenicity.

Key findings from the publication “Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation”* will be highlighted, and the implications for genetic counselors, geneticists, variant scientists, laboratory directors, pathologists and clinicians will be described.

Join Genomenon’s Director of Customer Success, Liz Varga as she leads a live discussion with Q&A to follow.

You will learn how to:

• Describe how Mastermind can be utilized to identify relevant medical literature for multiple variants types, including SNVs, indels, regulatory and intronic variants, copy number and karyotypic variants, and gene fusions
• Compare the sensitivity and specificity of Mastermind other common tools used in variant curation and literature search.
• Describe how Mastermind made a substantive difference and altered medical management in real-world clinical cases in neonatology, pediatrics, neurology, and oncology practice

*Front. Genet 11:577152