bio-population-genetics-selection-statistics
Detect signatures of natural selection using Fst, Tajima's D, iHS, XP-EHH, and other selection statistics. Calculate population differentiation, test for departures from neutrality, and identify selective sweeps with scikit-allel and vcftools. Use when computing selection signatures like Fst or Tajima's D.
SKILL.md
| Name | bio-population-genetics-selection-statistics |
| Description | Detect signatures of natural selection using Fst, Tajima's D, iHS, XP-EHH, and other selection statistics. Calculate population differentiation, test for departures from neutrality, and identify selective sweeps with scikit-allel and vcftools. Use when computing selection signatures like Fst or Tajima's D. |
name: bio-population-genetics-selection-statistics description: Detect signatures of natural selection using Fst, Tajima's D, iHS, XP-EHH, and other selection statistics. Calculate population differentiation, test for departures from neutrality, and identify selective sweeps with scikit-allel and vcftools. Use when computing selection signatures like Fst or Tajima's D. tool_type: mixed primary_tool: scikit-allel
Version Compatibility
Reference examples tested with: STAR 2.7.11+, matplotlib 3.8+, numpy 1.26+, scipy 1.12+
Before using code patterns, verify installed versions match. If versions differ:
- Python:
pip show <package>thenhelp(module.function)to check signatures - CLI:
<tool> --versionthen<tool> --helpto confirm flags
If code throws ImportError, AttributeError, or TypeError, introspect the installed package and adapt the example to match the actual API rather than retrying.
Selection Statistics
"Scan my population data for signs of natural selection" → Calculate selection statistics (Fst, Tajima's D, iHS, XP-EHH) to detect selective sweeps and departures from neutrality.
- Python:
allel.moving_hudson_fst(),allel.ihs(),allel.xpehh()(scikit-allel) - CLI:
vcftools --weir-fst-popfor pairwise Fst
Detect natural selection signatures using diversity statistics and extended haplotype homozygosity.
Fst - Population Differentiation
scikit-allel
import allel
import numpy as np
callset = allel.read_vcf('data.vcf.gz')
gt = allel.GenotypeArray(callset['calldata/GT'])
pos = callset['variants/POS']
subpops = {'pop1': [0, 1, 2, 3, 4], 'pop2': [5, 6, 7, 8, 9]}
ac_subpops = gt.count_alleles_subpops(subpops)
num, den = allel.hudson_fst(ac_subpops['pop1'], ac_subpops['pop2'])
fst_per_snp = num / den
print(f'Mean Fst: {np.nanmean(fst_per_snp):.4f}')
Windowed Fst
fst_windowed, windows, n_snps = allel.windowed_hudson_fst(
pos, ac_subpops['pop1'], ac_subpops['pop2'],
size=100000, step=50000)
import matplotlib.pyplot as plt
plt.figure(figsize=(14, 4))
plt.plot(windows[:, 0], fst_windowed)
plt.xlabel('Position')
plt.ylabel('Fst')
plt.savefig('fst_windows.png')
vcftools
# Calculate Fst between populations
vcftools --vcf data.vcf --weir-fst-pop pop1.txt --weir-fst-pop pop2.txt --out fst_result
# With window
vcftools --vcf data.vcf --weir-fst-pop pop1.txt --weir-fst-pop pop2.txt \
--fst-window-size 100000 --fst-window-step 50000 --out fst_windowed
Tajima's D - Departures from Neutrality
scikit-allel
import allel
import numpy as np
callset = allel.read_vcf('data.vcf.gz')
gt = allel.GenotypeArray(callset['calldata/GT'])
pos = callset['variants/POS']
ac = gt.count_alleles()
D, windows, counts = allel.windowed_tajima_d(pos, ac, size=100000, step=50000)
plt.figure(figsize=(14, 4))
plt.plot(windows[:, 0], D)
plt.axhline(y=0, color='r', linestyle='--')
plt.xlabel('Position')
plt.ylabel("Tajima's D")
plt.savefig('tajima_d.png')
Interpretation
| D Value | Interpretation |
|---|---|
| D < -2 | Recent selective sweep or population expansion |
| D ≈ 0 | Neutral evolution |
| D > 2 | Balancing selection or population bottleneck |
vcftools
vcftools --vcf data.vcf --TajimaD 100000 --out tajima
# Output: tajima.Tajima.D (CHROM, BIN_START, N_SNPS, TajimaD)
iHS - Integrated Haplotype Score
Detects ongoing selective sweeps.
import allel
import numpy as np
callset = allel.read_vcf('data.vcf.gz')
gt = allel.GenotypeArray(callset['calldata/GT'])
pos = callset['variants/POS']
h = gt.to_haplotypes()
ac = h.count_alleles()
flt = (ac[:, 0] > 1) & (ac[:, 1] > 1)
h_flt = h.compress(flt, axis=0)
pos_flt = pos[flt]
ac_flt = ac.compress(flt, axis=0)
ihs = allel.ihs(h_flt, pos_flt, include_edges=True)
ihs_std = allel.standardize_by_allele_count(ihs, ac_flt[:, 1])
significant_ihs = np.abs(ihs_std[0]) > 2
print(f'Significant iHS hits: {significant_ihs.sum()}')
Plot iHS
import matplotlib.pyplot as plt
plt.figure(figsize=(14, 4))
plt.scatter(pos_flt, ihs_std[0], s=1)
plt.axhline(y=2, color='r', linestyle='--')
plt.axhline(y=-2, color='r', linestyle='--')
plt.xlabel('Position')
plt.ylabel('Standardized iHS')
plt.savefig('ihs.png')
XP-EHH - Cross-Population Extended Haplotype Homozygosity
Detects completed sweeps by comparing populations.
import allel
import numpy as np
h = gt.to_haplotypes()
h_pop1 = h.take(pop1_hap_idx, axis=1)
h_pop2 = h.take(pop2_hap_idx, axis=1)
xpehh = allel.xpehh(h_pop1, h_pop2, pos, include_edges=True)
significant = np.abs(xpehh) > 2
print(f'Significant XP-EHH hits: {significant.sum()}')
NSL - Number of Segregating Sites by Length
Alternative to iHS, less sensitive to recombination rate variation.
nsl = allel.nsl(h_flt)
nsl_std = allel.standardize_by_allele_count(nsl, ac_flt[:, 1])
Garud's H Statistics
Detect soft sweeps.
h1, h12, h123, h2_h1 = allel.garud_h(h)
h12_windowed = allel.moving_garud_h(h, size=100)
Composite Selection Score
Combine multiple statistics:
import numpy as np
from scipy import stats
def composite_score(fst, tajD, ihs_abs):
fst_rank = stats.rankdata(fst) / len(fst)
tajD_rank = stats.rankdata(-tajD) / len(tajD) # Low Tajima's D
ihs_rank = stats.rankdata(ihs_abs) / len(ihs_abs)
return (fst_rank + tajD_rank + ihs_rank) / 3
css = composite_score(fst_per_snp, tajD_values, np.abs(ihs_values))
Complete Selection Scan
Goal: Scan a genomic region for signatures of natural selection using multiple complementary statistics.
Approach: Filter to segregating biallelic variants, compute windowed Tajima's D for neutrality departures and windowed nucleotide diversity for reduced variation, then visualize both statistics along the chromosome.
import allel
import numpy as np
import matplotlib.pyplot as plt
callset = allel.read_vcf('data.vcf.gz')
gt = allel.GenotypeArray(callset['calldata/GT'])
pos = callset['variants/POS']
ac = gt.count_alleles()
flt = ac.is_segregating() & (ac.max_allele() == 1)
gt = gt.compress(flt, axis=0)
pos = pos[flt]
ac = ac.compress(flt, axis=0)
window_size = 100000
window_step = 50000
tajD, tajD_windows, _ = allel.windowed_tajima_d(pos, ac, size=window_size, step=window_step)
pi, pi_windows, _, _ = allel.windowed_diversity(pos, ac, size=window_size, step=window_step)
fig, axes = plt.subplots(2, 1, figsize=(14, 8), sharex=True)
axes[0].plot(tajD_windows[:, 0], tajD)
axes[0].axhline(0, color='r', linestyle='--')
axes[0].set_ylabel("Tajima's D")
axes[1].plot(pi_windows[:, 0], pi)
axes[1].set_ylabel('Pi')
axes[1].set_xlabel('Position')
plt.tight_layout()
plt.savefig('selection_scan.png', dpi=150)
Related Skills
- scikit-allel-analysis - Data loading and basic statistics
- population-structure - Population assignment for Fst
- linkage-disequilibrium - EHH depends on LD patterns
- ecological-genomics/landscape-genomics - Genotype-environment association for non-model organisms