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Genomenon to Detail Gene Curation Across the Clinical Exome in Scientific Presentation at 2024 ACMG Annual Clinical Genetics Meeting

FOR IMMEDIATE RELEASE
February 21, 2024 Ann Arbor, MI

Genomenon to Detail Gene Curation Across the Clinical Exome in Scientific Presentation at 2024 ACMG Annual Clinical Genetics Meeting

The company will also present posters on the global prevalence of PLA2G6-associated neurodegeneration and the application of homologous-annotation to avoid missed diagnoses for CALM genes associated with sudden death in calmodulinopathies

Genomenon, a leading genomic intelligence company, will deliver a scientific presentation, present two posters, and host a showcase presentation at the ACMG Annual Clinical Genetics Meeting being held in Toronto, Canada, March 12-16, 2024.

The scientific presentation will describe the company’s initiative to curate and fully characterize gene-disease relationships (GDRs) across all genes associated with the clinical exome using a gene-first approach facilitated by computational indexing of published evidence to ensure maximal sensitivity. This effort is essential for ensuring optimal patient diagnoses as sequencing of large gene panels, exomes, and genomes has led to an exponential increase in the number of variants of uncertain significance and publication of newly characterized GDRs.

Details of the Genomenon scientific presentation and posters are as follows:

Presentation Title: Comprehensive identification of gene-disease relationships across the clinical exome through systematic literature review and parallelized evidence curation
Presenter: Mark J. Kiel, MD, PhD, Chief Scientific Officer
Session Date and Time: Thursday, March 14, 2024, 11:30 a.m. – 11:45 p.m.
Location: Room 714/16

Poster Title: An estimation of global prevalence of PLA2G6-associated neurodegeneration
Poster Number: P170
Session Date and Time: Friday, March 15, 2024, 10:30 a.m. – 12:00 p.m.

Poster Title: Clarification of variant reporting for homologous genes resolved through systematic literature review – ACMG Secondary Findings genes CALM1, CALM2, and CALM3
Poster Number: P250
Session Date and Time: Friday, March 15, 2024, 10:30 a.m. – 12:00 p.m.

Genomenon will also host a showcase presentation on how curating the entire human genome at the gene and variant level accelerates the field of genomics, patient diagnosis, and the advancement of precision medicine. The importance of systematic identification of all published variants and expert review of associated evidence will be highlighted. This effort is critical for resolution of variants of uncertain significance (VUS) and will enable more rapid and accurate variant interpretation.

Presentation Title: The fully curated human genome – implications for improved clinical diagnostics for both known and novel variants
Presenters: Mark J. Kiel, MD, PhD, Chief Scientific Officer, Brittnee Jones, Vice President of Product Management, and Jeffrey Bissonnette, Senior Director of Genomic Curation
Date and Time: Friday, March 15, 2024, 10:45 a.m. – 11:15 p.m.
Location: Exhibit Theatre

About
Genomenon

Genomenon is a genomics intelligence company dedicated to improving the quality of life of genetic disease and cancer patients by making genomic information actionable. Blending the power of AI with the precision of genomic expertise, the company empowers pharmaceutical companies and the clinical diagnostic community with empirical genomic evidence and insights that both support the development of novel therapeutics and speed diagnostic assessments and treatment recommendations.

About
2024 ACMG Annual Clinical Genetics Meeting
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