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

A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission
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DOI:
10.1086/302577
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发表时间:
1999-10-01
影响因子:
9.8
通讯作者:
Clayton, D
Clayton, D
中科院分区:
生物学1区
文献类型:
--
作者:
Clayton, D

文献摘要

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提出了一种新的传输/不均衡检验统计量的情况下,传输是不确定的。当考虑多位点标记单倍型的传播时,就会出现这种情况,因为在大量情况下单倍型阶段通常是未知的。即使是单位点标记,如果父母一方或双方都失踪,传播也是不确定的。在这两种情况下,不确定性可能会减少进一步的兄弟姐妹,其疾病状态可能不受影响或未知的类型。建议的测试是一个分数测试的基础上,省略了隐藏的人口分层的影响最大的条款的部分评分函数。
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.