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ACMG Annual Clinical Genetics Meeting 2024 Exhibit Theater Presentation

Exhibit Theater Presentation

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

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.

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.

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.

Exhibit Theater Speakers
Mark J. Kiel, MD, PhD
Chief Scientific Officer & Co-Founder

Mark has extensive experience in genome sequencing and clinical data analysis underlying the vision and technology driving the Genomenon suite of software tools.

Jeffrey Bissonnette
Senior Director of Genomic Curation

With a background in genetic counseling, Jeffrey brings over a decade of experience in clinical genetics, variant interpretation, and software tools for variant analysis.

Brittnee Jones, PhD
Vice President of Product & Product Strategy

Brittnee has spent over a decade building and leading customer success teams across the NGS space, ensuring rapid product adaption and maximal value for customers.

2024 ACMG Annual Clinical Genetics Meeting
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