Information integration

ZURICH, Switzerland & BOSTON—The first quarter of the year saw an announcement from BC Platforms and Genomenon of a collaboration aimed at rare diseases. Under this agreement, the companies will aim to integrate Genomenon’s Mastermind Genomic Search Engine with BC Platforms’ BC|GENOME, a genomic analysis and interpretation platform. 

In addition, they will also integrate Mastermind with BC Platforms’ BC|INSIGHT to enable more complex genomic research via simplified genomic data annotations for artificial intelligence and/or machine learning efforts. 

BC Platforms provides access to genomic/clinical data and samples from more than five million individuals, thanks to its network of partners, and has developed BCRQUEST.com, a Global Data Partner Network that makes genomic and clinical cohort data available for pharmaceutical and medical research and development.

Mike Klein, CEO of Genomenon, said, “We look forward to this collaboration and share BC Platforms’ commitment to deliver the most comprehensive source of genomic evidence to researchers and clinicians working on the frontiers of medical science.”

On Genomenon’s end, the Mastermind platform applies AI-driven genomics for rapid variant interpretation, identifying genomic associations supported by medical evidence and “drawing informative connections between genes, variants, copy number variants (CNVs), diseases, phenotypes, therapies, and categorical keywords,” according to the company. The technology can also be leveraged in biomarker discovery and, as noted on Genomenon’s website, has applications in molecular diagnostics, genetics, and drug discovery.

As for BC|GENOME, the focus is data management and analysis for “clinical genomic data production for healthcare organizations and genomics labs.” Similar to BC|INSIGHT, this platform supports all common data types for NGS, genotype, and variant analysis, and can be scaled for small or large laboratory environments. BC|GENOME provides users with the ability to integrate with lab equipment such as LIMS or other instruments, the possibility for workflow automation, and “full traceability and repeatability for clinical use.”

BC Platforms describes BC|INSIGHT as a data and research management solution for clinical genomics studies that collects genomic and phenotypic data, noting on its website that “All common data types for NGS, GWAS, variant analysis, linkage, and other statistics can be managed on the platform.” In addition, the platform is compatible with either small- or large-scale projects and includes auditing tools for tracking data and events.

“We are delighted to be working with Genomenon, and enhancing the value of its outstanding Mastermind Genomic Search Engine to healthcare and research collaborators,” commented Tero Silvola, CEO of BC Platforms. “Mastermind is the only one of its kind, delivering insight into the full text of genomic literature in the blink of an eye. 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.”

And this is not the only diagnostics-focused partnership BC Platforms announced in the first quarter of 2021. The company also reported that it had linked up with Japanese research institution RIKEN and the Finnish Institute for Health and Welfare (THL) to develop a precision model for predicting those most at risk from COVID-19. This effort will combine BC|INSIGHT with RIKEN’s disease stratification algorithms as well as COVIDprog, a nationwide research project led by THL that collects samples and data from COVID-19 patients to identifying characteristics and genetic causes that contribute to patient outcomes. The goal, according to a BC Platforms press release, is to create a “prediction procedure” that could estimate symptoms and outcomes based on COVID-19 patients’ records before they were infected.

“Systematic data sharing in a safe and secure manner is crucial in our fight against COVID-19. We are delighted to collaborate with RIKEN and THL on their novel data-led approach to protecting people in the pandemic. We will use our BC|INSIGHT platform as a data-backbone, to provide the Japanese and Finnish researchers with the high-quality data they need to determine predictive procedures to support shielding and treatment of people during this, and future, pandemics. We are looking forward to working with RIKEN to make this AI prediction platform available to other healthcare systems in order to help them to fight the COVID-19 pandemic,” Silvola stated in a news release.

Genomenon https://www.genomenon.com/

BC Platforms https://www.bcplatforms.com/