ACMG Annual Clinical Genetics Meeting 2024 Exhibit Theater Presentation

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Exhibit Theater Presentation

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The Fully Curated Human Genome –
Implications for Improved Clinical Diagnostics for both Known and Novel Variants

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Diagnosing rare genetic diseases using gene panels, clinical exomes, and whole genome sequencing requires rigorous methods of data analysis and interpretation in molecular diagnostics labs. Curating the entire human genome at the gene and variant level will have a significant impact on our understanding of human genetics and how to apply these insights for clinical care. In particular, systematic identification of all published variants and expert review of associated evidence is a critical component in the resolution of variants of uncertain significance (VUS) and will enable more rapid and accurate variant interpretation.

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In this talk, Chief Science Officer and Founder, Dr. Mark Kiel will convey how this curation will accelerate the field of genomics, patient diagnosis, and precision medicine development.

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Following, Brittnee Jones, VP of Product Management, and Jeffrey Bissonnette, Senior Director of Genomic Curation, will deliver a comprehensive overview of Genomenon’s pioneering approach to curating the entire genome, providing insight into both known and novel variants.

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