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The key idea behind meta-analysis with RAREMETAL is that various gene-level test statistics can be reconstructed from single variant score statistics and that, when the linkage disequilibrium relationships between variants are known, the distribution of these gene-level statistics can be derived and used to evaluate signifi-cance. Single variant statistics are calculated using the Cochran-Mantel-Haenszel method. The main formulae are tabulated in the following:
Formulae for RAREMETAL
Test
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Statistics
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Null Distribution
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Notation
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Single Variant |
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un-weighted Burden |
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Weighted Burden |
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VT |
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SKAT |
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