BNTagger: improved tagging SNP selection using Bayesian networks
Bibliographic record
Abstract
Genetic variation analysis holds much promise as a basis for disease-gene association. However, due to the tremendous number of candidate single nucleotide polymorphisms (SNPs), there is a clear need to expedite genotyping by selecting and considering only a subset of all SNPs. This process is known as tagging SNP selection. Several methods for tagging SNP selection have been proposed, and have shown promising results. However, most of them rely on strong assumptions such as prior block-partitioning, bi-allelic SNPs, or a fixed number or location of tagging SNPs. We introduce BNTagger, a new method for tagging SNP selection, based on conditional independence among SNPs. Using the formalism of Bayesian networks (BNs), our system aims to select a subset of independent and highly predictive SNPs. Similar to previous prediction-based methods, we aim to maximize the prediction accuracy of tagging SNPs, but unlike them, we neither fix the number nor the location of predictive tagging SNPs, nor require SNPs to be bi-allelic. In addition, for newly-genotyped samples, BNTagger directly uses genotype data as input, while producing as output haplotype data of all SNPs. Using three public data sets, we compare the prediction performance of our method to that of three state-of-the-art tagging SNP selection methods. The results demonstrate that our method consistently improves upon previous methods in terms of prediction accuracy. Moreover, our method retains its good performance even when a very small number of tagging SNPs are used.
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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 | 0.005 | 0.009 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.004 | 0.002 |
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".