A deep learning phenome wide association study of the electrocardiogram
Why this work is in the frame
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Bibliographic record
Abstract
Aims: Deep learning methods have shown impressive performance in detecting a range of diseases from electrocardiogram (ECG) waveforms, but the breadth of diseases that can be detected with high accuracy remains unknown, and in many cases the changes to the ECG allowing these classifications are also opaque. In this study, we aim to determine the full set of cardiac and non-cardiac conditions detectable from the ECG and to understand which ECG features contribute to the disease classification. Methods and results: Using large datasets of ECGs and connected electronic health records from two separate medical centres, we independently trained PheWASNet, a multi-task deep learning model, to detect 1243 different disease phenotypes from the raw ECG waveform. We confirmed that the ECG can be used to detect chronic kidney disease (AUC = 0.80), cirrhosis (AUC = 0.80), and sepsis (AUC = 0.84), as well as a range of cardiac diseases, and also found new detectable conditions, including respiratory failure (AUC = 0.86), neutropenia (AUC = 0.83), and menstrual disorders (AUC = 0.84). We found that of the 37 non-cardiac strongly detectable conditions, 35 were detectable by the model output for just four diseases, suggesting that they have similar effects on the ECG. We found that high performance in some conditions including neutropenia, respiratory failure, and sepsis can be explained by linear models based on conventional measurements taken from the ECG. Conclusion: Our study uncovers a range of diseases detectable in the ECG, including many previously unknown phenotypes, and makes progress towards understanding ECG features that allow this detection.
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Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it