Chromosome 1q12–q22 linkage results in eastern Québec families affected by schizophrenia
Bibliographic record
Abstract
An impressive LOD score of 6.5 has recently been reported for schizophrenia on chromosome 1q21-22 in large families from eastern Canada [Brzustowicz et al., 2000: Science 288:678-682]. We did not reproduce such a finding in large pedigrees of eastern Québec based on seven markers spanning the 1p13-1q22 region and using both the models and phenotypes of Brzustowicz et al. and those used in our ongoing genome scan in 21 large French Canadian families. There was no significant total LOD scores in that chromosomal region (a maximum of 0.57) either for schizophrenia or bipolar disorders, nor any signal in individual large pedigrees. However, the samples of Brzustowicz et al. and ours differed in terms of their origins, the latter being of French ancestry and the former of Celtic and German descent. Population difference, genetic heterogeneity, and differences in ascertainment might explain the lack of replication. The result reported by Brzustowicz et al. cannot be discarded and should probably be considered as a susceptibility locus for a subset of the schizophrenic population.
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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 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.004 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.006 | 0.000 |
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".