Hygieia is a new AI agent system that integrates phenotypes, genetics, and records to achieve superior rare disease diagnosis and gene prioritization with confidence scores.
Estimatingcumulative pointprevalenceofrarediseases: analysisoftheorphanetdatabase.Europeanjournalofhuman genetics, 28(2):165–173
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A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization
Hygieia is a new AI agent system that integrates phenotypes, genetics, and records to achieve superior rare disease diagnosis and gene prioritization with confidence scores.