Evolution of a Molecular Autopsy Program from within a Death Investigation System
Bibliographic record
Abstract
The molecular autopsy has become an important adjunct to investigation of sudden cardiac deaths in individuals under 40 years of age. Consequently, this evolution in molecular medicine has led to significant changes in the evaluation of sudden cardiac deaths and vascular catastrophe in medicolegal death investigation systems. There is a recognition that increasingly detailed pathological examinations of the heart and vasculature are necessary, which must also be accompanied by retention of deoxyribonucleic acid (DNA) for possible genetic testing and communication that a possible heritable disease may be responsible for the unexpected death. Forensic pathologists are at the forefront of identifying possible cases of heritable disease and unless properly managed, surviving family members may not receive the opportunity for subsequent clinical evaluation or the diagnosis provided may be erroneous, with inappropriate labels placed on families. More than ever, forensic pathologists must be aware of the spectrum of heritable conditions that may contribute to death. This is necessary not only for natural deaths, but also in areas of classical forensic interest where a death has occurred under criminally suspicious means or following interaction with police involving struggle or restraint. Some genetic conditions are also recognized to cause changes that mimic inflicted trauma. This review outlines many of the issues we have considered in developing a molecular autopsy program and how processes developed at the time of postmortem examinations may be optimized to facilitate evaluation and treatment of surviving family members as well as enhance information provided to the courts.
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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 | 0.028 | 0.035 |
| Meta-epidemiology (narrow) | 0.000 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.004 | 0.002 |
| Science and technology studies | 0.002 | 0.003 |
| Scholarly communication | 0.005 | 0.006 |
| Open science | 0.004 | 0.007 |
| Research integrity | 0.002 | 0.006 |
| Insufficient payload (model declined to judge) | 0.005 | 0.003 |
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".