Efficient Semiparametric Inference Under Two-Phase Sampling, With Applications to Genetic Association Studies

Journal of the American Statistical Association
Ran TaoDan-Yu Lin

Abstract

In modern epidemiological and clinical studies, the covariates of interest may involve genome sequencing, biomarker assay, or medical imaging and thus are prohibitively expensive to measure on a large number of subjects. A cost-effective solution is the two-phase design, under which the outcome and inexpensive covariates are observed for all subjects during the first phase and that information is used to select subjects for measurements of expensive covariates during the second phase. For example, subjects with extreme values of quantitative traits were selected for whole-exome sequencing in the National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP). Herein, we consider general two-phase designs, where the outcome can be continuous or discrete, and inexpensive covariates can be continuous and correlated with expensive covariates. We propose a semiparametric approach to regression analysis by approximating the conditional density functions of expensive covariates given inexpensive covariates with B-spline sieves. We devise a computationally efficient and numerically stable EM-algorithm to maximize the sieve likelihood. In addition, we establish the consistency, asymptotic normality, and asymptotic effic...Continue Reading

References

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Jul 13, 2013·Proceedings of the National Academy of Sciences of the United States of America·Dan-Yu LinZheng-Zheng Tang
Sep 15, 2015·Journal of the American Statistical Association·Ran TaoDan-Yu Lin

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Citations

Jun 6, 2019·American Journal of Epidemiology·Jonathan S SchildcroutPatrick J Heagerty
Aug 27, 2019·Biometrics·Le WangJinbo Chen
Aug 9, 2018·Statistics in Medicine·Thea BjørnlandMette Langaas
Oct 6, 2020·Statistics in Medicine·Tong Chen, Thomas Lumley
Dec 18, 2020·Statistical Methods in Medical Research·Kyunghee HanPamela A Shaw
Jan 1, 2020·Journal of the American Statistical Association·Ran TaoDan-Yu Lin
Apr 3, 2021·Alzheimer's Research & Therapy·Yann Le GuenUNKNOWN Alzheimer’s Disease Neuroimaging Initiative
Sep 30, 2021·Biometrics·Jacob M MarongePaul J Rathouz
Jan 7, 2022·Statistics in Medicine·Tong Chen, Thomas Lumley

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Methods Mentioned

BETA
Exome Sequencing

Software Mentioned

SMLE
R

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