Nostos Genomics’ AION is now integrated with the Mastermind Genomic Search Engine. This blog will show how AION users can quickly view Mastermind publication search results within the platform in just a few steps.
AION is a variant interpretation platform that analyzes all genetic variants seen in a person’s DNA and automatically identifies clinically relevant genetic variants, so genetic testing labs and physicians can gain actionable insights for their patients. The integration of Mastermind complements this functionality by allowing users to find, connect, explore, and understand the links between genomic concepts of interest. Let’s take a look at the process:
Once you’ve logged onto AION, you can perform a variant interpretation. Upload a VCF file and specify relevant patient characteristics including HPO terms. Click “Run Analysis”.
After analysis has been run, select “View” for results.
For any variant you can click on “More Info”..
Select “Literature” to view related publications in Mastermind.
On the Literature tab, you will see the number of available publications next to a link-out to Mastermind. Select “Mastermind”, and you’ll be directly linked to the Mastermind dashboard that will display all related publications.
Within Mastermind, you can see all the details on the 8 articles found in your search.
The integration of Mastermind into the AION platform offers efficiency and accuracy to researchers and clinical decision-makers tasked with decoding genetic data.
The Mastermind Genomic Search Engine identifies every genomic association supported by the medical evidence, drawing informative connections between genes, variants, copy number variants (CNVs), diseases, phenotypes, therapies, and categorical keywords to inform both clinical care and drug discovery. By allowing users to find, connect, explore, and understand the links between genomic concepts of interest, Mastermind elevates the efficiency and accuracy of the clinical decision-making process.
AION uses machine learning and functional genomics data to overcome the obstacles of biased, noisy and sparse data. It reduces the analysis time for an exome to less than 2 minutes and increases the diagnostic yield by 50%, compared to rule-based classification. Furthermore, as transparency is critical for safe and reliable clinical use, AION uses a white-box approach that provides insight into how input data contributes to output predictions. Human experts can understand the process through which AION predicts the molecular effects of a genetic variant to inform a clinical diagnosis.
Visit Nostos Genomics to learn more.
See all of the Trusted Variant Interpretation Solutions that Mastermind is integrated with.