Sunday, April 13 | 1:45–2:45 p.m.
Annette Leon, Ph.D., Hematogenix Laboratories
The growing impact of artificial intelligence (AI) on molecular diagnostics is undeniable. AI-powered tools are revolutionizing disease diagnosis at the molecular level, offering faster, more accurate, and cost-effective solutions that push the boundaries of what's possible in precision medicine. However, this innovation also brings significant concerns. Issues such as algorithmic bias and the ethical implications of AI-driven decisions are among the key challenges facing the future of AI in healthcare. In this presentation, we'll examine the current state of AI in molecular diagnostics and the critical questions surrounding its use.
After attending this presentation, participants should be able to:
• Understand the role of AI in molecular diagnostics.
• Identify the benefits, challenges, and future of AI in molecular diagnostics.
Somak Roy, M.D., Cincinnati Children's Hospital Medical Center
This session will discuss the concept of in silico mutagenesis and its role in developing and maintaining high quality NGS-based molecular diagnostics testing. Specifically, bioinformatics techniques used for the introduction of single nucleotide variants, insertion and deletions, and copy number alterations will be presented along with examples of commonly available bioinformatics tools. Advantages and limitations of these techniques will be discussed in the context of NGS assay validation and proficiency testing.
After attending this presentation, participants should be able to:
• What is in silico mutagenesis
• What are the different approaches and algorithms used for in silico mutagenesis
• Different variant types that can be introduced in sequence data generated from real samples
• Utility in augmenting NGS assay validation, revalidation, and proficiency testing
The program includes sessions, networking opportunities, industry spotlights and more.
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