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Numerous statistical methods have been developed to explore genomic imprinting and maternal effects, which are causes of parent-of-origin patterns in complex human diseases. However, most of them either only model one of these two…

Methodology · Statistics 2024-01-02 Pooya Aavani , Alexandre Trindade , Fangyuan Zhang

Parental origin effects play an important role in mammal development and disorder. Case-control mother-child pair genotype data can be used to detect parental origin effects and is often convenient to collect in practice. Most existing…

Methodology · Statistics 2022-08-11 Yuang Tian , Hong Zhang , Alexandre Bureau , Hagit Hochner , Jinbo Chen

Numerous statistical methods have been developed to explore genomic imprinting and maternal effects, which are causes of parent-of-origin patterns in complex human diseases. Most of the methods, however, either only model one of these two…

Methodology · Statistics 2024-01-02 Ruwani Herath , Alex Trindade , Fangyuan Zhang

RNA sequencing allows one to study allelic imbalance of gene expression, which may be due to genetic factors or genomic imprinting. It is desirable to model both genetic and parent-of-origin effects simultaneously to avoid confounding and…

Applications · Statistics 2017-05-08 Vasyl Zhabotynsky , Wei Sun , Kaoru Inoue , Terry Magnuson , Mauro Calabrese

We introduce a method to rigorously draw causal inferences---inferences immune to all possible confounding---from genetic data that include parents and offspring. Causal conclusions are possible with these data because the natural…

Methodology · Statistics 2024-03-12 Stephen Bates , Matteo Sesia , Chiara Sabatti , Emmanuel Candes

Causal inference analyses often use existing observational data, which in many cases has some clustering of individuals. In this paper we discuss propensity score weighting methods in a multilevel setting where within clusters individuals…

Applications · Statistics 2020-12-24 Youjin Lee , Trang Q. Nguyen , Elizabeth A. Stuart

Collection of genotype data in case-control genetic association studies may often be incomplete for reasons related to genes themselves. This non-ignorable missingness structure, if not appropriately accounted for, can result in…

Methodology · Statistics 2024-07-12 Le Wang , Zhengbang Li , Ben Fitzpatrick , Clarice Weinberg , Jinbo Chen

Modern data sets in various domains often include units that were sampled non-randomly from the population and have a latent correlation structure. Here we investigate a common form of this setting, where every unit is associated with a…

Methodology · Statistics 2019-07-25 Omer Weissbrod , Shachar Kaufman , David Golan , Saharon Rosset

The case-control design is often used to test associations between the case-control status and genetic variants. In addition to this primary phenotype a number of additional traits, known as secondary phenotypes, are routinely recorded and…

Linear mixed-effects models are widely used in analyzing repeated measures data, including clustered and longitudinal data, where inferences of both fixed effects and variance components are of importance. Unlike the fixed effect inference…

Methodology · Statistics 2022-08-31 J. Zhang , W. Guo , J. S. Carpenter , Andrew Leroux , K. R. Merikangas , N. G. Martin , I. B. Hickie , H. Shou , H. Li

In statistical genetics an important task involves building predictive models for the genotype-phenotype relationships and thus attribute a proportion of the total phenotypic variance to the variation in genotypes. Numerous models have been…

Applications · Statistics 2016-03-30 Deniz Akdemir , Jean-Luc Jannink

Genomic imprinting has been thought to play an important role in seed development in flowering plants. Seed in a flowering plant normally contains diploid embryo and triploid endosperm. Empirical studies have shown that some economically…

Applications · Statistics 2010-11-15 Gengxin Li , Yuehua Cui

Recent advances in genotyping technology have delivered a wealth of genetic data, which is rapidly advancing our understanding of the underlying genetic architecture of complex diseases. Mendelian Randomization (MR) leverages such genetic…

Methodology · Statistics 2023-12-19 Wenhao Cao , Saonli Basu

Motivation: Genome-wide association studies (GWASs), which assay more than a million single nucleotide polymorphisms (SNPs) in thousands of individuals, have been widely used to identify genetic risk variants for complex diseases. However,…

Computational Engineering, Finance, and Science · Computer Science 2015-01-27 Ben Teng , Can Yang , Jiming Liu , Zhipeng Cai , Xiang Wan

Genotyping errors are known to influence the power of both family-based and case-control studies in the genetics of complex disease. Estimating genotyping error rate in a given dataset can be complex, but when family information is…

Quantitative Methods · Quantitative Biology 2011-09-08 Luke Jostins

Genetic risk prediction is an important component of individualized medicine, but prediction accuracies remain low for many complex diseases. A fundamental limitation is the sample sizes of the studies on which the prediction algorithms are…

Methodology · Statistics 2017-06-20 Sihai Dave Zhao

Intercurrent events, common in clinical trials and observational studies, affect the existence or interpretation of final outcomes. Principal stratification addresses this challenge by defining local average treatment effect estimands…

Methodology · Statistics 2025-09-22 Jiaqi Tong , Brennan Kahan , Michael O. Harhay , Fan Li

Standard logistic regression analysis of case-control data has low power to detect gene-environment interactions, but until recently it was the only method that could be used on complex polygenic data for which parametric distributional…

Methodology · Statistics 2020-10-13 Tianying Wang , Alex Asher

An important problem in many domains is to predict how a system will respond to interventions. This task is inherently linked to estimating the system's underlying causal structure. To this end, Invariant Causal Prediction (ICP) (Peters et…

Methodology · Statistics 2018-09-21 Christina Heinze-Deml , Jonas Peters , Nicolai Meinshausen

This work was motivated by a twin study with the goal of assessing the genetic control of immune traits. We propose a mixture bivariate distribution to model twin data where the underlying order within a pair is unclear. Though estimation…

Methodology · Statistics 2025-07-21 Zonghui Hu , Pengfei Li , Dean Follmann , Jing Qin
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