FOR IMMEDIATE RELEASE
February 21, 2024 Ann Arbor, MI
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
The Real-world Evidence to validate a drug target, identify trial-eligible patients, or change a diagnosis already exists. It is buried in 39 million biomedical articles, locked behind paywalls and supplemental files most researchers never find.
Genomenon closes that gap. Fit-for-purpose AI-powered search reads 11.2 million full-text papers and 3.7 million supplemental datasets. Eighty expert scientific curators validate every finding. The result is structured, traceable, regulatory-grade Real-World Evidence at the genetic variant and patient level. Loxo@Lilly used Genomenon to add 73 variants to the RET label. In a head-to-head, Genomenon identified 83% more rare disease patients than ChatGPT plus OpenEvidence.
250+ diagnostic labs and 75 biopharma programs rely on Genomenon as the evidence layer behind precision medicine.
