Validity of the family-based association test for copy number variant data in the case of non-linear intensity-genotype relationship.
Validity of the family-based association test for copy number variant data in the case of non-linear intensity-genotype relationship.
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在非线性强度-基因型关系的情况下，基于家族的关联测试对拷贝数变异数据的有效性。
DOI：
10.1002/gepi.21674
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发表时间：
2012
影响因子：
2.1
通讯作者：
Plagnol,Vincent
中科院分区：
文献类型：
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作者：
Zanda,Manuela;Onengut,Suna;Walker,Neil;Todd,JohnA;Clayton,DavidG;Rich,StephenS;Hurles,MatthewE;Plagnol,Vincent
Ionita-Laza 及其同事提出了一种基于家族的关联测试 (FBAT)，该测试基于来自拷贝数变异 (CNV) 检测的原始强度数据，而不是基因型识别 [Ionita-Laza et al., 2008]。这项工作的动机是由于 CNV 检测的分辨率有限，难以获得可靠的离散 CNV 识别，特别是对于复杂和多等位基因的 CNV。简而言之，假设二元结果表型和三重设计，为三重设计 i 提出以下得分统计：
Ionita-Laza and colleagues have proposed a family-based association test (FBAT) based on raw intensity data from copy number variant (CNV) assays rather than genotype calls [Ionita-Laza et al., 2008]. This work is motivated by the difficulty of obtaining reliable discrete CNV calls owing to the limited resolution of CNV assays, especially for complex and multi-allelic CNVs. Briefly, assuming a binary outcome phenotype and a trio design, the following score statistic was proposed for the trio i: