RARE Daily

BC Platforms Partners with Genomenon to Boost Rare Disease Diagnostics and Research

February 23, 2021

Rare Daily Staff

Healthcare data management company BC Platforms said it has entered a collaboration with AI-driven genomics company Genomenon to advance clinical genomics and research.

Genomenon’s Mastermind Genomic Search Engine will be integrated into BC Platforms’ genomic analysis and interpretation platform BC|GENOME. On the research side, Mastermind will also be integrated into BC Platforms’ research platform BC|INSIGHT to facilitate complex genomic research by simplifying genomic data annotations and enabling AI/ML applications.

Genomenon’s Mastermind uses artificial intelligence to accelerate variant interpretation, providing immediate insight into the full text of millions of scientific articles. Mastermind identifies every genomic association supported by the medical evidence, drawing informative connections between genes, variants, copy number variants, 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.

BC|GENOME is an interoperable and configurable genomics platform for clinical grade genomic data production, analysis and interpretation. BC|INSIGHT is a scalable research data management solution for managing healthcare data, conducting studies as well as enabling research collaborations by proving a trusted research environment. Through its built-in patient data logic, ability to handle all data types and robust access management, the solution has been a preferred platform for more than 20 years for a wide range of research environments from single cohort to population scale.

“Mastermind is the only one of its kind, delivering insight into the full text of genomic literature in the blink of an eye,” said Tero Silvola, CEO of BC Platforms. “Genomenon is a natural partner for us as both companies are passionate about powering evidence-based genomics. This is about super-charging data-driven decision-making in healthcare.”

Photo: Tero Silvola, CEO of BC Platforms

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