Genome‐wide association studies for discovery of genes involved in asthma
Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Bibliographic record
Abstract
Asthma is the result of a complex interaction between environmental factors and genetic variants that confer susceptibility. Studies of the genetics of asthma have previously been conducted using linkage designs and candidate gene association studies. Recently, the association study design has been extended from specific candidate genes to an unbiased genome-wide approach: the genome-wide association study (GWAS). To date, there have been 12 GWAS to look for susceptibility loci for asthma and related traits. The first GWAS for asthma discovered a novel associated locus on chromosome 17q21 encompassing the genes ORMDL3, GSDMB and ZPBP2. None of these genes would have been selected in a candidate association study based on current knowledge of the functions of these genes. Nevertheless, this finding has been consistently replicated in independent populations of European ancestry and also in other ethnic groups. Thus, chromosome 17q21 seems to be a true asthma susceptibility locus. Other genes that were identified in more than one GWAS are IL33, RAD50, IL1RL1 and HLA-DQB1. Additional novel susceptibility genes identified in a single study include DENND1BI and IL2RB. Discovering the causal mechanism behind these associations is likely to yield great insights into the development of asthma. It is likely that further meta-analyses of asthma GWAS data from existing international consortia will uncover more novel susceptibility genes and further increase our understanding of this disease.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.003 | 0.001 |
| 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 | 0.001 | 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 it