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. 2013 Dec 26;9(12):e1003993. doi: 10.1371/journal.pgen.1003993

Table 1. Fraction of simulated local heritability explained in WTCCC2 genotypes.

# Low-frequency typed causals:
A: 1 2 3 5 10
Inline graphic 100% 82% 69% 55% 37%
Inline graphic 100% 85% 74% 59% 44%
Inline graphic 61% (1%) 65% (1%) 61% (1%) 58% (2%) 60% (1%)
Inline graphic 94% (2%) 92% (2%) 97% (3%) 95% (2%) 90% (2%)
Inline graphic 0.94 1.13 1.40 1.71 2.37

Analysis of simulated disease architecture with 180 causal 1Mbp loci yielding a true Inline graphic. In each locus, 1–10 causal variants were sampled from either low-frequency (Inline graphic) of common (MAFInline graphic) WTCCC2 SNPs. For each of four methods tested, the fraction of local heritability identified by the method is reported over 50 simulations (with standard error in parenthesis). Top two panels correspond to experiments with observed causal variants and bottom two panels to experiments with causal variants hidden. In A and B only (where causals are typed), bold-faced Inline graphic and Inline graphic represents significant difference from 100% by z-score at Inline graphic (accounting for 5 architectures tested). The ratio of Inline graphic to Inline graphic is reported in the bottom row of each panel (with bold-face indicating significance by t-test at Inline graphic).