Genomenon
Powering Evidence-Based Genomics
Genomenon powers evidence-based precision medicine by connecting patient DNA with the scientific research used to diagnose and treat cancer and rare diseases. Mastermind, the world’s first Genomic Search Engine, has the world’s largest index of medical articles, cataloguing the genetic relationships between DNA and human diseases.
Genomenon’s Cited Variants Reference (CVR) data is a public dataset available in BigQuery, Google Cloud’s big data and machine learning data warehouse, for use in genomic applications. The Cited Variants Reference is generated from Genomenon’s Mastermind® genomic database, which contains one of the most comprehensive indexes of genomic literature in the world. With over 4.1 million genomic variants found in medical literature, each variant is annotated with a citation count based on the number of scientific publications mentioning the variant, along with a link into the Mastermind Genomic Search Engine to view full search results for those articles. The CVR is designed to help clinicians and researchers prioritize and scale their genomic interpretation.
The CVR dataset can be used as an evidence filter for clinical actionability in genomic analysis pipelines (based on the presence of evidence in the literature) and a quick way to get insight into the literature for variant curation with direct links into the Mastermind Genomic Search Engine for genome data stored in Google Cloud Platform. The CVR dataset is also useful for researchers exploring novel, unpublished variants across patient cohort genomic data sets by looking for variants with little or no evidence in the medical literature.