Fine-scale structure of a whole regional population through genetics and genealogies
Bibliographic record
Abstract
ABSTRACT The Saguenay–Lac-Saint-Jean (SLSJ) region of Quebec, Canada, a population shaped by a prominent founder effect, has long been considered genetically homogeneous. This study comprehensively investigates the fine-scale population structure within SLSJ by integrating genotype data from the CARTaGENE cohort with extensive genealogical records from the BALSAC population register. A time-efficient algorithm was developed to compute billions of kinship coefficients from genealogies in order to analyse an entire generation. We demonstrate a striking concordance between realised (genetic) and expected (genealogical) kinship (r = 0.78). From both kinship measures, we reveal fine-scale population structure at the municipal level within SLSJ, challenging the notion of regional homogeneity. Our analysis highlights an east–west genetic gradient and uncovers migratory streams and differential founders’ genetic contributions that shaped the genetic landscape of this population. This research provides insights into the interplay of genetics, demography, and historical events, underscoring the importance of fine-scale population structure in genetic studies and reaffirming the power of large-scale genealogical data.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".