Genetic Testing for von Willebrand Disease: The Canadian Experience
Bibliographic record
Abstract
Von Willebrand disease (vWD) is the most common inherited bleeding disorder in humans, but its diagnosis, using clinical criteria and phenotypic hemostasis test results, can be problematic. Since the cloning of the von Willebrand factor ( VWF) gene in the mid-1980s, a significant amount of information has been gathered with respect to the molecular pathology responsible for this trait. The extent of this information, along with major advances in genetic technology, has now made the integration of genetic testing for vWD a feasible option in some instances. This review summarizes the current state of knowledge regarding the genetic causation of the various forms of vWD. We also describe how the genetic analysis of vWD has been initiated within the context of a national network of inherited bleeding disorder clinics. In summary, the aim of this review is to prompt a careful consideration of how genetic testing can find an appropriate role as a complementary diagnostic modality for vWD.
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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 | 0.000 |
| Bibliometrics | 0.003 | 0.003 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.000 |
| 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".