Table 1.
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.
If the maximum LLR corresponds to the true XCI model, we consider that the true model is identified using the max-LLR approach.
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.