Symptoms based RGD prediction
This application analyzes clinical symptoms from GenTIGS to predict rare genetic disorders (RGDs) using a frequency-weighted scoring system. Each symptom contributes to a disorder's score based on its reported frequency (e.g., 'Always', 'Very frequent', 'Frequent', 'Occasional'). RGDs are ranked by cumulative scores, simulating a decision-tree-based approach.
Instructions:
Disclaimer: The information provided is for educational and research reference purposes only, based on previously published studies.
GenTIGS contains thousands of clinical symptom terms associated with rare genetic disorders (RGDs). In the selection area, terms are organized by major disorder categories based on RGD classification to facilitate easy symptom selection for users
- Step 1: Select one or more disorder categories to display medical terms of clinical symptoms associated with RGDs from GenTIGS.
- Step 2: Once a category is selected, a symptom selection box will appear to the right of the category list, displaying the related clinical symptoms in medical terms.
- Step 3: To select multiple symptoms, hold Ctrl (Windows) or Cmd (Mac) while clicking, or use the arrow keys along with the Ctrl/Cmd key or mouse cursor.
- Step 4: Click the "Predict RGD" button to generate a ranked list of disorders based on symptom frequency scores.
Disclaimer: The information provided is for educational and research reference purposes only, based on previously published studies.