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. 2017 Dec 17;16:1176935117747272. doi: 10.1177/1176935117747272

Table 1.

Proportions of simulated replicates for which the true underlying XCI model was identified by the max-LLR and comp-LLR approaches for SNP1 and SNP2.

Scenario XCI model MAF LD Max-LLRa
Comp-LLRb
SNP1 SNP2 SNP1 SNP2
1 Skewed XCI to normal allele 0.3 0.95 0.828 0.840 0.828 0.840
2 Skewed XCI to deleterious allele 0.3 0.95 0.830 0.832 0.910 0.918
3 Random XCI 0.3 0.95 0.942 0.944 0.990 0.992
4 Escaping XCI 0.3 0.95 0.596 0.614 0.960 0.948
5 Skewed XCI to normal allele 0.4 0.95 0.970 0.974 0.970 0.974
6 Skewed XCI to deleterious allele 0.4 0.95 0.932 0.912 0.954 0.932
7 Random XCI 0.4 0.95 0.962 0.970 0.994 0.998
8 Escaping XCI 0.4 0.95 0.688 0.698 0.952 0.940
9 Skewed XCI to normal allele 0.3 0.85 0.616 0.660 0.618 0.660
10 Skewed XCI to deleterious allele 0.3 0.85 0.696 0.678 0.876 0.844
11 Random XCI 0.3 0.85 0.926 0.940 0.982 0.982
12 Escaping XCI 0.3 0.85 0.444 0.474 0.938 0.936
13 Skewed XCI to normal allele 0.4 0.85 0.860 0.834 0.864 0.834
14 Skewed XCI to deleterious allele 0.4 0.85 0.768 0.756 0.808 0.804
15 Random XCI 0.4 0.85 0.986 0.978 0.994 0.990
16 Escaping XCI 0.4 0.85 0.500 0.496 0.926 0.934

Abbreviations: LD: linkage disequilibrium (r2); LLR, likelihood ratio; MAF, minor allele frequency for the associated SNPs; SNP, single-nucleotide polymorphism; XCI, X-chromosome inactivation.

The proportions were calculated based on 500 replicates, each with 2000 cases and 2000 controls.

a

If the maximum LLR corresponds to the true XCI model, we consider that the true model is identified using the max-LLR approach.

b

If the true underlying XCI model is included in the resulting one or multiple equivalent possible XCI models, we consider that the true model is identified by the comp-LLR approach.