Scientists from King Abdullah University of Science and Technology (Saudi Arabia) have taught artificial intelligence to predict rare genetic diseases. The results of the research are presented by the authors shared In the journal BMC Medicine.
An innovative tool called STARVar, powered by artificial intelligence, diagnoses diseases by analyzing the human genome and the symptoms it identifies and comparing them with data in the scientific literature. STARVar stands for Symptom Based Vehicle. The tool differs from other algorithms in that it focuses on the patient’s actual symptoms, regardless of how these clinical descriptions are documented in the literature.
Scientists have already tested the new technology. STARVar outperformed many other tools in analyzing the genomes of patients from Saudi Arabia and other countries, which can only deal with overt symptoms. The technology was also able to detect a rare genetic mutation in a patient who reported joint stiffness, swelling under the skin and bone damage. STARVar identified one of them in an analysis of 800 putative variants of damaged genes.
Researchers hope the technology will soon become widespread and accepted by the clinical genetics community.
Before artificial intelligence taught Diagnose heart disease.