Genomenon and Nostos Genomics Partner to Accelerate Rare Genetic Disease Diagnoses

Genomenon said it entered into a partnership with Nostos Genomics, which includes integration of the genomic search engine into the company’s cloud-based variant interpretation platform.

Photo: David Gorgan, CEO of Nostos Genomics

The integration will allow users of Nostos’ AION to preview the number of published articles related to their search and easily link out to view the evidence in Genomenon’s Mastermind search engine.

Mastermind connects patient genetic data with relevant evidence from scientific literature. Using an AI-driven algorithm to index the full text of millions of genomic research articles, Mastermind has created a comprehensive database of more than 7 million published variants across all genes and gene elements and updates it weekly.

The company said leveraging genetic data and clinical evidence is the key to improving the diagnosis of rare diseases and making informed decisions with confidence. This integration of virtually all relevant literature into the genomic analysis process will empower clinical decision-makers to both maximize and act on profound insights contained in next generation sequencing data.

Nostos Genomics’ AION platform enhances genetic variant interpretation for clinical genetic testing by leveraging AI and functional genomics. It allows users to access a regularly updated knowledge repository with more than 100 annotations, including a selection of data from high-throughput functional genomics assays that directly reflect the molecular impact of thousands of selected mutations.

“This collaboration stemmed from a shared desire to not only provide clinicians with the best decision support possible, but also improve the accuracy, speed, and accessibility of genetic testing to lessen the burden of the diagnostic odyssey for patients,” said David Gorgan, CEO of Nostos Genomics. 

Author: Rare Daily Staff