Scientists develop AI tool to link genetic mutations with diseases

DNA testing could predict future health. REPRESENTATION PIC/ISTOCK

Scientists have created a new artificial intelligence (AI) tool that can find genetic mutations that cause disease and predict what kinds of illnesses those mutations are likely to lead to. The method, called V2P (Variant to Phenotype), is intended to speed up genetic testing and support the search for new treatments for complex and rare conditions.

Most current genetic analysis tools can tell whether a mutation appears harmful, but they usually cannot identify the specific type of disease it may cause. V2P addresses this limitation by using advanced machine learning to connect genetic variants with their likely phenotypic outcomes - that is, the diseases or traits a mutation might cause - effectively forecasting how a person's DNA could shape their health.

The approach helps pinpoint genetic changes that are most relevant to a patient's condition. By determining whether a variant is pathogenic and also the type of disease it is likely to cause, both the speed and accuracy of genetic interpretation and diagnostics can be greatly improved.

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