Commit 477edb9
authored
spec: add manhattan-gwas specification (#2929)
## New Specification: `manhattan-gwas`
Related to #2925
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### specification.md
# manhattan-gwas: Manhattan Plot for GWAS
## Description
A Manhattan plot visualizes genome-wide association study (GWAS) results
by displaying -log10 transformed p-values across chromosomal positions.
Points are arranged by genomic position along the x-axis with
alternating colors for each chromosome, making it easy to identify
significant associations. A horizontal threshold line indicates
genome-wide significance (typically p < 5×10⁻⁸). This plot is essential
for identifying genetic variants associated with traits or diseases.
## Applications
- Identifying significant SNPs in genome-wide association studies for
complex diseases
- Visualizing genetic association results across the entire genome in
pharmacogenomics research
- Presenting GWAS findings in scientific publications and research
presentations
- Screening for candidate loci in agricultural genomics and breeding
programs
## Data
- `chromosome` (categorical) - Chromosome identifier (1-22, X, Y, or MT)
- `position` (integer) - Base pair position along the chromosome
- `p_value` (float) - P-value from association test (will be -log10
transformed)
- `snp_id` (string, optional) - SNP identifier for labeling significant
hits
- Size: 100,000 - 1,000,000+ variants typical for GWAS
- Example: Simulated GWAS data with random p-values and some significant
peaks
## Notes
- X-axis should show cumulative genomic position with chromosome labels
centered below their region
- Use alternating colors (e.g., blue/gray) for adjacent chromosomes for
visual distinction
- Include horizontal dashed line at -log10(5×10⁻⁸) ≈ 7.3 for genome-wide
significance threshold
- Optionally include suggestive threshold line at -log10(1×10⁻⁵) = 5
- Consider point size reduction for dense datasets to prevent
overplotting
- Significant SNPs above threshold may be labeled or highlighted with
different color
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