ANN ARBOR, MICHIGAN – September 18, 2018 - Genomenon announced a major enhancement to the Mastermind Genomic Search Engine today: the indexing of supplemental data from scientific research papers. This latest release of Mastermind includes over 500,000 new genomic variants found in the supplemental data. Mastermind powers Precision Medicine by connecting pharmaceutical companies and clinical diagnostic labs with the research used to diagnose and treat cancer and rare diseases.
Mastermind already contains the most comprehensive database of genomic literature in the world, and is used by diagnostic labs to accelerate genomic interpretation for NextGeneration Sequencing (NGS) of DNA. Genomenon also licenses the Mastermind knowledgebase to pharmaceutical and life science companies to identify and prioritize genomic biomarkers for drug development and gene panel design.
Researchers and clinicians can now use the Mastermind Genomic Search Engine to expand their search into the supplemental materials that are often published alongside research papers and frequently contain vast collections of genomic information.
“The supplemental data from research publications are an important source of insight because it contains additional information that is useful in the variant interpretation process, and in understanding the genomic landscape associated with any given disease” said Mike Klein, Genomenon’s CEO. “Indexing this data has been a priority that has been confirmed by the feedback we’ve received from the rapidly growing Mastermind user community.”
The Genomenon team started by identifying the supplemental materials of the most impactful genomic research papers in the PubMed registry of medical references, ensuring that the additional data would make the biggest impact possible for clinicians and researchers. More supplemental materials will be added to Mastermind on a regular basis.
Genomenon technology breaks through manual curation barrier
The reason most precision medicine tools have not been able to provide insight into supplemental data without manual curation is due to the lack of a common file format. Supplemental data is often published as Excel, PDF, .csv (comma-separated value), Word, text, or image file. Genomenon was able to overcome this challenge by engineering their indexing pipeline to ingest these different file formats and applying their proprietary Genomic Language Processing (GLP) technology to index the content for easy retrieval by researchers.
As drugs and medical treatments increasingly become more personalized in the age of precision medicine, the need for easy access to genomic data by the medical community becomes more critical. The addition of supplemental data to the Mastermind knowledgebase fuels Genomenon’s goal of being the world’s most trusted source of genomic literature.
Genomenon is a leading genomic intelligence company transforming patient care by uncovering the genomic drivers of genetic disease and cancer. By combining the power of AI built on the world’s premier genomic data set with genomic expertise, the company simplifies complex genetic data into actionable insights. Genomenon's integrated software, data, and services solutions empower clients with advanced patient diagnosis and precision medicine development.