FH-TabNet: Multi-Class Familial Hypercholesterolemia Detection via a Multi-Stage Tabular Deep Learning
Bibliographic record
Abstract
Familial Hypercholesterolemia (FH) is a genetic disorder characterized by elevated levels of Low-Density Lipoprotein (LDL) cholesterol or its associated genes. Early-stage and accurate categorization of FH is of significance allowing for timely interventions to mitigate the risk of life-threatening conditions. Conventional diagnosis approach, however, is complex, costly, and a challenging interpretation task even for experienced clinicians resulting in high underdiagnosis rates. Although there has been a recent surge of interest in using Machine Learning (ML) models for early FH detection, existing solutions only consider a binary classification task solely using classical ML models. Despite its significance, application of Deep Learning (DL) for FH detection is in its infancy, possibly, due to categorical nature of the underlying clinical data. The paper addresses this gap by introducing the FH-TabNet, which is a multi-stage tabular DL network for multi-class (Definite, Probable, Possible, and Unlikely) FH detection. The FH-TabNet initially involves applying a deep tabular data learning architecture (TabNet) for primary categorization into healthy (Possible/Unlikely) and patient (Probable/Definite) classes. Subsequently, independent TabNet classifiers are applied to each subgroup, enabling refined classification. The model's performance is evaluated through 5-fold cross-validation illustrating superior performance in categorizing FH patients, particularly in the challenging low-prevalence subcategories.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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 itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".