Genomenon Takes a Leap in the Race to Curate the Genome
ANN ARBOR, Mich., Nov. 2, 2023 /PRNewswire-PRWeb/ -- Genomenon Inc., a leading genomic intelligence company, today announced the first milestone in its journey to curate the human genome with the release of Mastermind 3.0, now including the clinical exome fully curated at the gene level. With this latest launch of its Mastermind Platform, Genomenon is delivering a comprehensive catalog of more than 9,000 gene-disease relationships across 5,500 genes, with more being added each week. These curations, based on ClinGen recommendations, are useful to accelerate novel variant curation, especially in large panels, whole exomes (WES), and whole genomes (WGS). The company is the first to curate the clinical exome at the gene level based on ClinGen guidelines, considered the highest industry standard.
- The company is the first to curate the clinical exome at the gene level based on ClinGen guidelines, considered the highest industry standard.
- As next-generation sequencing technology advances, whole exome and genome testing is quickly replacing less comprehensive methods to identify disease in patients.
- The latest release of our platform represents a significant milestone in our work to curate the human genome and simplify complex genetic data into actionable insights."
- Dr. Kiel will also be presenting on November 3, in a session "Understanding Gene-Disease Relationships: A Novel and Actionable Approach".