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Predictive tools can confuse rare mutations with dangerous ones
When a patient's DNA is read, it is compared with a reference version of the human genome. This allows geneticists and rare disease experts to look at a list of places where the patient's DNA differs.
AI Summary
When a patient’s DNA is sequenced, it is compared to a reference human genome to generate a list of genetic differences. Most of these variations are harmless and common among millions of people, but some can cause disease. Computer programs score each difference for potential danger, providing clinicians with information that can influence treatment decisions. Researchers worldwide use these scores to investigate possible mechanisms of action for the identified variants.
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