by Researchers at KAUST have unveiled a groundbreaking AI tool that could revolutionize the diagnosis of rare diseases. The tool, called STARVar, utilizes a range of data sources including scientific literature, genomic information, and patient symptoms to accurately identify disease-associated gene variants.
Unlike other gene prioritization tools, STARVar places a strong emphasis on real-world patient symptoms, allowing for a more comprehensive and accurate understanding of the condition. Traditional methods often rely on standardized vocabularies, which can hinder a nuanced understanding of symptoms. STARVar, on the other hand, can interpret symptom data recorded in both standardized and natural language formats.
The researchers tested STARVar on different genomic datasets, consisting of clinical variants from patients in Saudi Arabia and other countries. In all validation tests, STARVar outperformed other variant prioritization tools by consistently ranking the correct disease-associated variant at the top of the list.
To demonstrate the real-world impact of STARVar, the tool was used to help diagnose a young Saudi girl with symptoms including joint stiffness, lumps under the skin, and bone damage. Out of nearly 800 suspect gene variants revealed through genomic sequencing, STARVar accurately identified a solitary mutation in the MMP2 gene as the likely driver of the girl’s condition.
STARVar, which stands for Symptom-based Tool for Automatic Ranking of Variants, is now available online for clinicians and researchers to use. The researchers at KAUST hope that the clinical genetics community will embrace and integrate this innovative tool into their genomic workflows.
This AI-driven tool brings hope to the field of rare disease diagnosis, providing a more efficient and accurate method for pinpointing disease-associated gene variants. With the ability to consider a wide range of symptom descriptions and data sources, STARVar has the potential to revolutionize the way rare diseases are diagnosed and treated.
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- Source: Coherent Market Insights, Public sources, Desk research
- We have leveraged AI tools to mine information and compile it
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