Genomenon Presents Study Identifying 11,000 Gene Disease Relationships Across the Clinical Exome at the ACMG Annual Clinical Genetics Meeting
ANN ARBOR, Mich., March 14, 2024 /PRNewswire-PRWeb/ -- Genomenon, a leading genomic intelligence company, presented data at the ACMG Annual Clinical Genetics Meeting today demonstrating how computational indexing of millions of published abstracts and full-text references combined with a systematic literature review can be used to rapidly and accurately characterize gene-disease relationships (GDRs) and to resolve variants of uncertain significance (VUS). The study was completed in less than six months and identified 10,745 germline GDRs and 5,973 germline GDRs with positive associations between a disease and gene. Each GDR is accompanied by well-documented scientific evidence curated by Genomenon's team of genetic scientists. Today's presentation shares a milestone in the company's mission to curate the human genome and understand the pathogenicity of any variant for patient diagnosis and precision medicine development.
- The study was completed in less than six months and identified 10,745 germline GDRs and 5,973 germline GDRs with positive associations between a disease and gene.
- This need is underscored by the fact that the number of VUS's is growing exponentially due to increased genetic testing and sequencing.
- The study used a literature-based approach that gathered variants through Genomenon's Mastermind Genomic Intelligence Platform and variant databases.
- The study demonstrated that there is only a 27% match of genetic variants listed in current databases and those found in the literature.