Identifying individuals at risk for ARVC caused by THEM43 P.S358L: a genetics educational tool for primary care physicians.
Bibliographic record
Abstract
Poster (P-21) Background: Genetics and genomics medicine is becoming integrated into primary care.While many Primary Care Physicians (PCPs) report a lack of confidence in referring and counselling patients, knowledge, experience, and skills to adequately fulfill their role, PCPs acknowledge this integration.Newfoundland and Labrador (NL) has a high incidence of arrhythmogenic right ventricular cardiomyopathy (ARVC) caused by the pS358L TMEM43 mutation.Its first indication can be sudden cardiac death (SCD).Timely referral of at-risk individuals to genetic/cardiac services is critical as correct diagnosis significantly reduces mortality by enabling effective treatment with an implantable cardioverter defibrillator.Short, concise summaries of genetic conditions that highlight "red flags" are effective tools for educating PCPs.However, no tool currently exists for this subtype of ARVC.
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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 | 0.004 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.008 | 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".