针对不确定单倍型传递的传递/不平衡检验的一种推广。
A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission.
作者信息
Clayton D
机构信息
MRC Biostatistics Unit, Institute of Public Health, Cambridge, United Kingdom.
出版信息
Am J Hum Genet. 1999 Oct;65(4):1170-7. doi: 10.1086/302577.
Abstract
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.
摘要
针对传递情况不确定的情形，提出了一种新的传递/不平衡检验统计量。当考虑多位点标记单倍型的传递时，就会出现这种情况，因为在大量实例中，单倍型相位往往是未知的。即使对于单一位点标记，如果一个或两个亲本缺失，传递也是不确定的。在这两种情况下，可以通过对更多同胞进行分型来降低不确定性，这些同胞的疾病状态可能未受影响或未知。所提出的检验是一种基于部分得分函数的得分检验，该函数省略了受隐藏群体分层影响最大的项。
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本文引用的文献
1
Transmission/disequilibrium tests for extended marker haplotypes.扩展标记单倍型的传递/不平衡检验。
Am J Hum Genet. 1999 Oct;65(4):1161-9. doi: 10.1086/302566.
2
A discordant-sibship test for disequilibrium and linkage: no need for parental data.一种用于不平衡和连锁分析的不一致同胞对检验：无需亲代数据。
Am J Hum Genet. 1998 Dec;63(6):1886-97. doi: 10.1086/302137.
3
A comparative study of sibship tests of linkage and/or association.连锁和/或关联的同胞关系测试的比较研究。
Am J Hum Genet. 1998 Nov;63(5):1507-16. doi: 10.1086/302104.
4
Use of parents, sibs, and unrelated controls for detection of associations between genetic markers and disease.利用父母、兄弟姐妹及无关对照来检测基因标记与疾病之间的关联。
Am J Hum Genet. 1998 Nov;63(5):1492-506. doi: 10.1086/302094.
5
Genetic association mapping based on discordant sib pairs: the discordant-alleles test.基于不一致同胞对的基因关联定位：不一致等位基因检验。
Am J Hum Genet. 1998 Apr;62(4):950-61. doi: 10.1086/301787.
6
A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test.存在关联时用于连锁分析的同胞关系检验：同胞传递/不平衡检验。
Am J Hum Genet. 1998 Feb;62(2):450-8. doi: 10.1086/301714.
7
A likelihood ratio test for detecting patterns of disease-marker association.一种用于检测疾病标志物关联模式的似然比检验。
Ann Hum Genet. 1997 Jul;61(Pt 4):335-50. doi: 10.1046/j.1469-1809.1997.6140335.x.
8
Use of siblings as controls in case-control association studies.在病例对照关联研究中使用同胞作为对照。
Ann Hum Genet. 1997 Jul;61(Pt 4):319-33. doi: 10.1046/j.1469-1809.1998.6210089.x.
9
Tests for linkage and association in nuclear families.核心家庭中的连锁与关联检验。
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10
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Genet Epidemiol. 1996;13(5):423-49. doi: 10.1002/(SICI)1098-2272(1996)13:5<423::AID-GEPI1>3.0.CO;2-3.
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