Genomenon said today it has won a Small Business Innovation Research (SBIR) grant from the NIH’s National Human Genome Research Institute (NHGRI).
Funding from the grant, valued at $152,946, will go toward creating a platform for producing and sharing “micropublications” across the genomics research community, as well as continuing Genomenon’s efforts to automate variant interpretation based on data from published studies.
The platform will enable users modify their micropublications—designed to rapidly bring research findings and reviews into the public domain—by updating them with new insights from research as they are published, Genomenon said.
The grant is intended to fund Genomenon’s work toward automatically organizing information relevant to genomic classification, as well as content from scientific references deemed to be conclusive. The work also includes publishing the findings, as well as sharing them in a publicly-accessible format.
The company reasons that curated genomic variant interpretation data can be retrieved more efficiently if the findings and reviews can be rapidly published, then shared across the community of research and clinical researchers.
The platform will be based on Genomenon’s flagship product, the Mastermind Genomic Search Engine, which according to the company is the world’s first search engine to connect genomic data from patients with evidence retrieved from scientific literature.
“Currently, Mastermind is used by over 1800 variant scientists in 25 different countries to more quickly curate literature for genetic variants in clinical settings,” Genomenon stated in a project summary submitted to NHGRI. “In response to feedback from ClinGen curators and others, the present proposal seeks to create a framework to facilitate literature curation and clinical variant interpretation activities within Mastermind.”
Genomenon said the micropublication text format would consist of “codified data fields including population frequencies, computational predictions, reference citations and relevant sentence fragments with conclusive content.”
The platform, according to Genomenon, will prioritize relevant references and external database entries containing content meaningful to variant classification guidelines, assemble the information into micropublications, allow users to manually review, alter and augment earlier entries and allow for sharing and continuously updating the information with other variant scientists in the Mastermind community and elsewhere.
“This grant allows us to build on the work from our last successful NIH funding to increase the automation of variant interpretation and allow users to rapidly share their findings across the scientific community.” Mark Kiel, M.D., Ph.D., Genomenon’s Co-founder and CSO, said in a statement. “This automated micropublication platform will help accelerate the sharing of knowledge as more and more genomic research is being published every year.”
Genomenon’s grant is Award Number R43HG010446, supported by NHGRI.
