Table 1.
Top 2% of scores (genome wide) | Top 1% of scores (genome wide) | Top 0.5% of scores (genome wide) | |||||
---|---|---|---|---|---|---|---|
| |||||||
Metric | Ref. | Enrichment | 2-sided P value | Enrichment | 2-sided P value | Enrichment | 2-sided P value |
Background selection (B statistic) | [29] | 1.801 | 0.001 | 2.341 | 9.90×10−4 | 2.365 | 0.002 |
Positive selection (CLR) | [28] | 0.408 | 6.53×10−5 | 0.173 | 5.80×10−7 | 0.259 | 0.016 |
Positive selection (CMS) | [88] | 0.054 | 0.001 | −0.037 | 0.006 | −0.039 | 0.007 |
Positive selection (XP-EEH) | [87] | 0.621 | 0.342 | 0.383 | 0.303 | 0.125 | 0.268 |
Positive selection (iHS) | [86] | 0.973 | 0.946 | 0.980 | 0.974 | 1.633 | 0.557 |
Neanderthal posterior probability (LA) | [89] | 0.807 | 0.347 | 0.800 | 0.462 | 0.858 | 0.745 |
Partitioned LDSR regression results for SNPs thresholded by extreme values (defined as top percentiles versus all other SNPs) of each natural selection metric. All tests have been adjusted for 58 ‘baseline’ annotations, which include categories such as LoF intolerant, recombination coldspot and conserved (Methods). Enrichment values below 1 indicate a depletion of h2SNP in an annotation category (less contribution than expected for a given number of SNPs). Negative enrichments should be considered zero (no contribution to h2SNP by these SNPs). Bold values indicate results surviving correction after adjusting for all tests (Bonferroni a = 0.05/18 = 0.0028).