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Genomenon Awarded NIH Grant to Curate the Human Genome

by | Feb 16, 2022 | Articles, News, Open Content

Ann Arbor, MI — February 15, 2022 — Genomenon, Inc., an AI-driven genomics company, today announced that it was awarded a $1.7 million grant by the National Institutes of Health (NIH) through the Small Business Innovation Research (SBIR) program. The grant is to accelerate development of the Mastermind Genomic Search Engine, the company’s AI-driven variant interpretation […]

Ann Arbor, MI — February 15, 2022 — Genomenon, Inc., an AI-driven genomics company, today announced that it was awarded a $1.7 million grant by the National Institutes of Health (NIH) through the Small Business Innovation Research (SBIR) program. The grant is to accelerate development of the Mastermind Genomic Search Engine, the company’s AI-driven variant interpretation engine, with a vision of curating the entire human genome. The grant enables Genomenon to increase the expertly curated evidence needed for clinicians to make a genetic diagnosis, extending Mastermind beyond its current function as the most complete source of genomic information for medical research.

The NIH’s SBIR program focuses on a variety of high-impact technologies spanning research tools, diagnostics, digital health, drugs, and medical devices. It provides funding needed to bring scientific innovations from bench to bedside. Awarded by the NIH’s National Human Genome Research Institute, this grant will fund the continued evolution of Genomenon’s AI-driven genomic engine, as well as the incorporation of collaborative features for community-based variant interpretation.1

“Having already curated more than 250 genes for rare diseases and cancer, this NIH funding allows us to accelerate the pace of genetic interpretation for our AI-driven curation engine, which is a crucial first step in a process that enables targeted and efficient use of expert human curators,” said Mike Klein, CEO of Genomenon. “Next-generation sequencing gives us the ability to quickly and efficiently create a large amount of genomic data. Curating the entire genome for meaning and actionability at scale is the next step in the evolution of using this information to improve patient care.”

Mastermind is the world’s most comprehensive source for genomic literature in the variant interpretation space. Used by more than 1,000 diagnostic labs and integrated into 18 clinical-grade decision support platforms and reference databases across the globe, Mastermind connects patient genetic data with critical evidence from scientific literature needed to diagnose rare genetic diseases and cancer.

  1. Research reported in this publication was supported by the National Human Genome Research Institute of the National Institutes of Health under Award Number R43HG010446. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
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