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Chunk #37 — RESULTS — EVALUATION OF THE PROPOSED METHOD — ASSESSMENT OF THE EFFECT OF MISSING PEDIGREE INFORMATION

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Case-control association testing in the presence of unknown relationships.
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With missing pedigree information, the corrected χ2 test using ϕest reduces the rate of spurious positive results more than when using ϕped or ϕpost. Figure 4 presents the Q – Q plots of p-values of the χ2 and the corrected χ2 tests when only part of the genealogy is known. As with the previous simulation, the χ2 test had a high false positive rate, and the p-values of the corrected χ2 test with ϕact were uniformly distributed (Figure 4). However, missing pedigree information resulted in undercorrection of false positives when ϕped was used. In the case of ϕest, the Q – Q plot was consistent with the previous simulation (with the entire genealogy) since the performance of kinship estimation was not affected by missing pedigree information.