March 23, 2020 ANN ARBOR, MI

Genomenon and University of California Santa Cruz (UCSC) Genome Browser Integration Accelerates Genomic Variant Interpretation

Mastermind Genomic Search Engine Added to Data Track Analysis for Detailed, Comprehensive Genetic Evidence

Genomenon® announced today that the University of California Santa Cruz (UCSC) Genome Browser, an open-sourced genetic knowledge base, has integrated links to Genomenon’s Mastermind® Genomic Search Engine into its platform to accelerate variant curation for genomic analysis.

The UCSC Genome Browser provides free, public access to genome assemblies, allowing researchers and clinicians the opportunity to search the genomic data of humans and many other species. Academics and researchers have been utilizing this interactive suite of tools, evidence, and downloadable data files for nearly 20 years.

Genomenon’s Mastermind is the world’s first genomic search engine, which connects patient’s genomic data with evidence from the scientific literature, a key requirement in analyzing a patient’s DNA in precision medicine for cancer and genetic diseases. Genomenon uses A.I. and machine learning to index the medical literature for the scientific evidence that ties genomic data to specific diseases, and presents them in a clinical context within Mastermind to accelerate patient diagnosis.

With the Mastermind integration, researchers have at their fingertips the most comprehensive list of aggregated evidence for any gene, variant, or position for all diseases. UCSC users will be able to quickly access the genomic evidence associated with human variants, shortening the search time required to interpret a variant and assess its pathogenicity.

We’re excited about UCSC Genome Browsers’ broad reach into genetic research and clinical communities”, said Dr. Mark Kiel, Genomenon co-founder and Chief Science Officer. “Mastermind is becoming a regular resource for researchers, and UCSC added the Mastermind data track to provide a direct line-of-sight into the empirical evidence supporting their variant interpretation.

For step by step instructions on how to get to Mastermind from the UCSC Genome Browser, read our blog post.

About Genomenon

Genomenon is a genomic health IT company whose mission is to ensure that every rare disease patient is accurately diagnosed and properly treated. With over 7,000 rare diseases impacting more people combined than cancer and a $262 billion orphan drug market targeting rare diseases, Genomenon delivers the genomic tools and data needed to diagnose and treat the genetic drivers of each rare disease.

The Mastermind Genomic Search Engine is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield, and assure repeatability in reporting genetic testing results.

Mastermind Genomic Landscapes inform pharmaceutical and bio-pharma companies on precision medicine development, deliver genomic biomarkers for clinical trial target selection, and support CDx regulatory submissions with empirical evidence.

Genomenon was named 2020 Global Company of the Year in Clinical Genomics Interpretation by Frost & Sullivan.