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Learn how to integrate genomics, epigenomics, and transcriptomics technologies in clinical practice to enhance diagnostic accuracy and patient outcomes in this 36-minute webinar. Discover how combining multiple "OMICS" approaches increases diagnostic yield for both constitutional and somatic applications, moving beyond traditional single-technology approaches. Explore the technical foundations of each field, including short and long read sequencing, karyotyping, optical genome mapping, methylation sequencing, and transcriptomic analysis. Understand how genomic findings such as small variants, repeat expansions, microsatellite contractions, and structural variants require functional assessment through epigenomic and transcriptomic data to determine pathogenic significance. Examine how epigenomic findings of imprinting defects, allele-specific silencing, and X chromosome silencing provide crucial context for interpreting genomic changes. Master the integration of transcriptomic data to assess how variants affect gene transcription levels, splicing, and processing. Analyze real clinical case examples demonstrating the superior diagnostic outcomes achieved through integrated data analysis performed by the same analyst reviewing all datasets simultaneously. Gain insights into how this combined approach increases diagnostic certainty, reduces time to diagnosis, and provides clinicians with more actionable results. Learn best practices for consulting with clinical colleagues to optimize the selection and application of appropriate OMICS tools for specific diagnostic challenges. Presented by Dr. Peter Lajos Nagy, a board-certified molecular genetic pathologist and founder of Praxis Genomics, who brings extensive experience in molecular diagnostics and has published over 30 research articles in leading scientific journals. Earn PACE credits upon completion through Labroots' accredited program.
