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AI algorithm analyses gene pair variants to improve rare disease diagnosis

June 6, 2019


The leam, led by Professor Tom Lenaerts of the Université Libre de Bruxelles, developed an AI algorithm called the Variant Combinations Pathogenicity Predictor (VarCoPP). VarCoPP makes it possible to identify combinations of genetic variants or abnormalities that cause rare diseases through computer analysis.

Around 80% of rare diseases are thought to be genetically determined, so it’s important for doctors to be able to predict which genetic variants in a patient’s genome may be responsible for their illness.

VarCoPP makes it possible to simultaneously test the combinations of different variants in gene pairs to predict their potential pathogenicity.