Second-Order Estimating Equations for Clustered Current Status Data from Family Studies Using Response-Dependent Sampling
Bibliographic record
Abstract
Studies about the genetic basis for disease are routinely conducted through family studies under response-dependent sampling in which affected individuals called probands are sampled from a disease registry, and their respective family members (non-probands) are recruited for study. The extent to which the dependence in some feature of the disease process (e.g., presence, age of onset, severity) varies according to the kinship of individuals reflects the evidence of a genetic cause for disease. When the probands are selected from a disease registry, it is common for them to provide quite detailed information regarding their disease history, but non-probands often simply provide their disease status at the time of contact. We develop conditional second-order estimating equations for studying the nature and extent of within-family dependence which recognizes the biased sampling scheme employed in family studies and the current status data provided by the non-probands. Simulation studies are carried out to evaluate the finite sample performance of different estimating functions and to quantify the empirical relative efficiency of the various methods. Sensitivity to model misspecification is also explored. An application to a motivating psoriatic arthritis family study is given for illustration.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.044 | 0.107 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.003 | 0.004 |
| Bibliometrics | 0.002 | 0.004 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.004 | 0.002 |
| Research integrity | 0.002 | 0.004 |
| Insufficient payload (model declined to judge) | 0.006 | 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".