Welcome to the Genomenon blog. For the last 3 years, the Genomenon team has been developing Mastermind – a comprehensive knowledge base of genomic variants curated from primary medical literature. So far Mastermind has read 3.25 million full text articles and found every disease-gene-variant combination discussed in the scientific literature covering somatic cancer, hereditary cancer, cardiomyopathy, and infertility. And we’ve just gotten started!
We are scouring the literature for genes and variants from additional disease sets with the goal to have a comprehensive coverage of all the genomic literature over the next 6 months.
The focus of Mastermind is to accelerate clinical curation for variants of unknown significance – eliminating the manual, time-consuming and mostly random search across PubMed and Google for the medical literature covering genes and variants of interest. We expect there to also be interesting applications of Mastermind in the research community as well.
With this knowledge base, we will be able to share some interesting facts and statistics about the the disease-gene-variant relationships found in the medical literature. For example, in a recent study for a leading molecular diagnostic clinic, Mastermind found literature on 459,586 variants for a set of 145 genes, compared to only 34,386 found by searching the titles and abstracts in PubMed.
We are building the comprehensive knowledge base of genomic variants found in medical literature and will be sharing more of the insight we gain from this data here on this blog in future posts.