Ann Arbor-based Geneomenon Creates Information Curator to Treat Genetic Diseases

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After three years of development, Genomenon, a software company started at the University of Michigan, has launched Mastermind, an analytic and data visualization tool that accelerates gene and variant curation by providing immediate insight into millions of prioritized scientific articles from primary medical literature.

Genomenon’s founder, Mark Kiel, experienced first-hand the time it takes geneticists and pathologists to search through medical publications for disease, gene, and variant relationships, and developed Mastermind to address the problem.

“As a molecular pathologist at the University of Michigan, 80 percent of my day was spent searching for information on PubMed, Google, COSMIC, and HGMD and only 20 percent of my time was spent on interpreting the data,” says Kiel. “We developed Mastermind to allow highly trained clinicians to spend less time on inefficient and incomplete literature searches and let them focus their skills on interpreting the data for patient reports.”

In order to create Mastermind, which delivers a comprehensive knowledge base of disease-gene-variant relationships organized into categories and prioritized by the strength of evidence through the company’s automated platform and algorithms, Genomenon has read 3.3 million full-text articles. From there, the platform found every disease-gene-variant combination related to somatic cancer, hereditary cancer, cardiomyopathy, infertility, and other genetic diseases.

The company is continually expanding its database and plans to add an additional 3 million articles related to other genetic diseases over the next six months, making Mastermind “the most comprehensive database of genomic knowledge ever created.”

More information about Genomenon can be found here.

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