SNP Set Association Testing for Survival Outcomes in the Presence of Intrafamilial Correlation
SNP Set Association Testing for Survival Outcomes in the Presence of Intrafamilial Correlation
复制标题
存在家庭内相关性时生存结果的 SNP 集关联测试
DOI：
10.1002/gepi.21914
复制
发表时间：
2015
影响因子：
2.1
通讯作者：
L. Lakhal
中科院分区：
文献类型：
--
作者：
M. Leclerc;J. Simard;L. Lakhal
在这项工作中，我们提出了一个单核苷酸多态性（SNP）集关联检验的删失表型存在的家庭为基础的设计。所提出的测试对常见和罕见变体均有效。为该特征的边缘分布指定比例风险考克斯模型，并通过高斯copula对家族依赖性进行建模。删失值被视为部分缺失数据，并提出了一个多重插补过程，以计算检验统计量。然后通过分析推导出P值。评估所提出的方法的有限样本经验性质，并通过模拟与现有竞争对手进行比较，并使用来自BRCA 1和BRCA 2修饰剂研究者联盟的乳腺癌数据集说明其用途。
In this work, we propose a single nucleotide polymorphism (SNP) set association test for censored phenotypes in the presence of a family‐based design. The proposed test is valid for both common and rare variants. A proportional hazards Cox model is specified for the marginal distribution of the trait and the familial dependence is modeled via a Gaussian copula. Censored values are treated as partially missing data and a multiple imputation procedure is proposed in order to compute the test statistics. The P‐value is then deduced analytically. The finite‐sample empirical properties of the proposed method are evaluated and compared to existing competitors by simulations and its use is illustrated using a breast cancer data set from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2.
影响因子：
2.1
作者：
He, Jing;Li, Hongzhe;Li, Mingyao
通讯作者：
Li, Mingyao
影响因子：
9.8
作者：
Lee, Seunggeun;Emond, Mary J.;Lin, Xihong
通讯作者：
Lin, Xihong
影响因子：
9.8
作者：
Ionita-Laza, Iuliana;Lee, Seunggeun;Lin, Xihong
通讯作者：
Lin, Xihong