Genomenon, Ann Arbor, Mich, has released Mastermind version 2.0. The genomic search engine now includes the ability to search the entirety of the genomic literature by phenotype (symptoms), a feature that will accelerate diagnosis of patients with genetic and rare diseases.
Patients, particularly those with rare diseases, don’t always have a name for their conditions, which makes diagnosis and treatment difficult. The ability to search the genetic literature by symptoms, following the human phenotype ontology, helps clinicians narrow each diagnosis to the appropriate disease and select appropriate treatments.
Physicians and researchers use the Mastermind genomic search engine to find the scientific evidence relevant to their patients’ DNA profile for diagnostic and therapeutic recommendations. The new release of Mastermind includes a more streamlined search function to help users more quickly scour millions of research articles to find cases that match their patients’ genomic profiles and symptoms.
Mark Kiel, MD, PhD, Genomenon.
The ability to search by phenotype was the top feature requested by the children’s hospitals and genetic testing labs that use Mastermind for variant interpretation. A preview of the new version was well received at the American Society for Human Genetics annual meeting in October.
“We are world-renowned for the speed of our whole-genome sequencing interpretations, and using Mastermind has been a crucial step in accelerating our progress.,” says Shareef Nahas, senior director of clinical operations for Rady Children’s Institute for Genomic Medicine. “This new functionality will be invaluable in our ongoing work to diagnose and treat babies with rare diseases.”
“The ability to search by phenotype gives Mastermind users even more power to discover which genes in a patient’s DNA are most likely to be relevant based on empirical data in the medical literature,” says Mark Kiel, MD, PhD, cofounder and chief science officer of Genomenon.
For more information, visit Genomenon.
