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Am J Hum Genet. 1999 Oct;65(4):1170-7.

A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission.

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  • 1MRC Biostatistics Unit, Institute of Public Health, Cambridge, United Kingdom.


A new transmission/disequilibrium-test statistic is proposed for situations in which transmission is uncertain. Such situations arise when transmission of a multilocus marker haplotype is considered, since haplotype phase is often unknown in a substantial number of instances. Even for single-locus markers, transmission is uncertain if one or both parents are missing. In both these situations, uncertainty may be reduced by the typing of further siblings, whose disease status may be unaffected or unknown. The proposed test is a score test based on a partial score function that omits the terms most influenced by hidden population stratification.

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