Comparing Four Genome-Wide Association Study (GWAS) Programs with Varied Input Data Quantity
Bibliographic record
Abstract
Genome-wide association studies (GWAS) have served as primary methods for the past decade for identifying associations between genetic variants and traits or diseases. Many software packages have been developed for GWAS analysis based on different statistical models. One key factor influencing the statistical reliability of GWAS is the amount of input data used. Few studies have been conducted to investigate this effect by comparing the performance of GWAS programs using varied amounts of experimental data, especially in the context of plants and plant genomes. In this paper, we investigate how input data quantity influences output of four widely used GWAS programs, PLINK, TASSEL, GAPIT, and FaST-LMM. Both synthetic and real data are used. Standard GWAS output includes single nucleotide polymorphisms (SNPs) and their p-values. To evaluate the programs, p-values and q-values of SNPs, and Kendall rank correlation between output SNP lists, are used. Results show that with the same GWAS program, different Arabidopsis thaliana datasets demonstrate similar trends of rank correlation with varied input quantity, but differentiate on the numbers of SNPs passing a given p- or q-value threshold. In practice, experimental datasets may have samples containing varied numbers of biological replicates. We show that this variation in replicates influences the p-values of SNPs, but does not strongly affect the rank correlation. When comparing synthetic and real data, the output SNPs from synthetic data have similar rank correlation trends across all four GWAS programs, but the same measure from real data is diverse across the programs. In addition, the real data results in a linear-like increase in the numbers of significant SNPs with more input data, but the synthetic data does not follow this trend. This study provides guidance on selecting GWAS programs when varied experimental data is present and on selecting significant SNPs for subsequent study. It contributes to understanding how much input data is necessary to yield satisfying GWAS results.
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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 | 0.010 | 0.031 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.002 |
| Bibliometrics | 0.002 | 0.003 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.001 | 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 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".