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Faizah Hashimy on Muck Rack

Faizah Hashimy

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Articles

Expert rules versus machine learning for lysosomal storage disorder identification: a comparative analysis using clinical data

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By Jaloliddin Rustamov, Muhammad Khan, Hamzah Dabool, Zahiriddin Rustamov, Mohd Saberi Mohamad, Hany Alashwal, Nazar Zaki, Fatma Al Jasmi, Ayisha Manzoor, Faizah Hashimy, Amal Al Tenaiji, Mariam Al Harbi
| Nature Verified
Abstract Early diagnosis of rare lysosomal storage disorders, such as Gaucher disease (GD), acid sphingomyelinase deficiency (ASMD), and Saposin C deficiency, is critical but often delayed. Electronic health records (EHRs) provide opportunities for screening, but class imbalance challenges computational methods. The real-world performance of one-class classification (OCC) machine learning (ML) models versus clinician-derived expert rules remains poorly understood.
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