[PDF][PDF] A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission

D Clayton - The American Journal of Human Genetics, 1999 - cell.com
D Clayton
The American Journal of Human Genetics, 1999cell.com
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 …
Summary
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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