Abstracts from the 51st European Society of Human Genetics Conference: Oral Presentations
Bibliographic record
Abstract
Detailed characterization of cellular effects of genetic variants is essential for understanding biological processes that underlie genetic associations to disease, to improve the interpretation of the personal genome, and to characterize the genetic architecture of molecular variation.This has inspired large consortium projects to create and integrate population-scale genome data with transcriptome dataas well as other molecular phenotype datain human populations.The catalogs of genetic effects on the transcriptome across multiple human tissues and conditions now allows downstream discovery in diverse questions in genetics, including joint effects of regulatory and coding variants underlying modified penetrance of disease-causing variants, and novel methods to understand variation in gene dosage in human populations and patients.T. Lappalainen: D.
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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 | 0.003 | 0.003 |
| Meta-epidemiology (narrow) | 0.002 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.003 | 0.001 |
| Open science | 0.001 | 0.003 |
| Research integrity | 0.004 | 0.003 |
| Insufficient payload (model declined to judge) | 0.400 | 0.171 |
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".