Bibliographic record
Abstract
Abstract Common human diseases such as asthma, diabetes, schizophrenia, and cancer are a major burden to industrialized nations in terms of clinical, social, and economic impacts. Understanding the contribution of genetic variants to the etiology of common diseases may bring improvements in preventive strategies, diagnostic tools, and therapies. To date, more than 1200 genes involved in the progression of simple rare Mendelian diseases have been identified. However, for common diseases, factors such as genetic heterogeneity, incomplete penetrance, gene‐gene, and gene‐environment interactions have hindered family based positional cloning strategies used for disease gene identification. Consequently, the detection of genetic variants leading to common diseases is still a major challenge for the biomedical community in 2004, despite the knowledge of the complete sequence of the human genome. Refinements to the existing gene‐mapping methods are thus necessary to overcome the existing hurdles. In this review, we will discuss the advantages and limitations of haplotype mapping in the search for common disease‐causing genes.
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 | 0.002 | 0.005 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.004 | 0.005 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.081 | 0.029 |
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".