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
ANN ARBOR, Mich., Feb. 21, 2024 /PRNewswire-PRWeb/ -- 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
More on the company's ACMG activities may be found at: http://www.genomenon.com/acmg-2024/
About Genomenon:
Genomenon is a leading genomic intelligence company dedicated to improving the quality of patients' lives by uncovering the genomic drivers of genetic disease and cancer. Blending the power of AI with genomic expertise, Genomenon simplifies complex genetic data into actionable insights for patient diagnosis and precision medicine development. The company's solutions include software, data, and curation and consulting services.
Media Contact:
Christine Quern
(617) 650-8497
[email protected]
Media Contact
Christine Quern, Genomenon, (617) 650-8497, [email protected], https://www.genomenon.com/
SOURCE Genomenon
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