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AI-based tool leverages diverse data sources for a new approach to rare disease diagnosis

AI-based tool leverages diverse data sources for a new approach to rare disease diagnosis
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Saudi Arabia , Robert Hoehndorf , Ashkenazi Trio , Symptom Based Tool , Automatic Ranking ,

New AI tool could aid in the diagnosis of enigmatic rare diseases

An innovative AI-based tool leverages varied symptom descriptions, along with evidence from the scientific literature and genomic datasets, to pinpoint disease-associated gene variants. ....

Saudi Arabia , Robert Hoehndorf , Lily Ramsey , Symptom Based Tool , Automatic Ranking , Rare Disease ,