Genomenon Integrates ClinVar Data into Mastermind to Support Clinical Decision-Making
, 2022-09-06 23:03:29,
“With the most comprehensive source of genomic information at their fingertips, Mastermind users will be able to quickly view the evidence needed to make a genetic diagnosis and provide a path forward for patients.”—Mike Klein, CEO, Genomenon
ANN ARBOR, Mich. (PRWEB)
September 07, 2022
Genomenon, Inc., an AI-driven genomics company, has integrated all the variants and pathogenicity interpretations from the ClinVar database into the Mastermind® Genomic Search Engine. This integration combines patient variants found by genetic testing labs and submitted to ClinVar with the scientific evidence for these variants found across the entirety of medical literature, all in a single Mastermind search.
ClinVar is a public archive of data submitted by genetic testing labs on the relationships between medically important genetic variants and their clinical characteristics found in patients. Sponsored by the National Institutes of Health (NIH), ClinVar is widely used by genomic analysts involved in clinical variant interpretation—a process that identifies disease-causing genetic variants in patient DNA to help clinicians make critical diagnostic decisions.
Genomenon’s Mastermind supports variant interpretation efforts for genetic disease by using AI (Artificial Intelligence) to connect…
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