Genomenon And Nostos Genomics Partner To Accelerate Rare Genetic Disease Diagnoses

By AIT News Desk On Jun 1, 2021

Nostos Genomics Integrates Mastermind Genomic Search Engine into AION Variant Interpretation Platform

Genomenon announced a partnership with Nostos Genomics, which includes integration of the Mastermind Genomic Search Engine cloud-based AION variant interpretation platform. This integration will allow users of AION to preview the number of published articles related to their search and easily link out to view the evidence in Mastermind.

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.

Mastermind connects patient genetic data with relevant evidence from scientific literature – an essential component of precision medicine for cancer and genetic disease. Using an AI-driven algorithm to index the full text of millions of genomic research articles, Mastermind has created a comprehensive database of over 7 million published variants across all genes and gene elements, updated on a weekly basis.

This innovative technology has positioned Mastermind as the world’s most comprehensive source for genomic literature in the variant interpretation space. Now integrated into over 20 clinical-grade decision support platforms across the globe, Mastermind has quickly become an ideal research companion for those tasked with decoding genomic data.

Nostos Genomics’ AION platform enhances genetic variant interpretation for clinical genetic testing by leveraging AI and functional genomics. Their white-box approach 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.

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“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. “The synergy of AION with Mastermind represents an exciting development for this important work.”

“We’re excited to partner with Nostos Genomics to put the most comprehensive and up-to-date genomic research in the hands of geneticists and researchers to accelerate rare disease diagnosis,” said Mike Klein, CEO of Genomenon. “Our relationship extends Mastermind’s global reach and connecting Mastermind with AION provides significant value in cutting turnaround time and increasing diagnostic yield for genetic testing labs.”