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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

Additive genetic variance in natural populations is commonly estimated using mixed models, in which the covariance of the genetic effects is modeled by a genetic similarity matrix derived from a dense set of markers. An important but…

Applications · Statistics 2015-09-09 Willem Kruijer

Meta-analysis of genome-wide association studies is increasingly popular and many meta-analytic methods have been recently proposed. A majority of meta-analytic methods combine information from multiple studies by assuming that studies are…

Quantitative Methods · Quantitative Biology 2014-01-20 Buhm Han , Jae Hoon Sul , Eleazar Eskin , Paul I. W. de Bakker , Soumya Raychaudhuri

Analyzing data from multiple neuroimaging studies has great potential in terms of increasing statistical power, enabling detection of effects of smaller magnitude than would be possible when analyzing each study separately and also allowing…

Genetic association analyses often involve data from multiple potentially-heterogeneous subgroups. The expected amount of heterogeneity can vary from modest (e.g., a typical meta-analysis) to large (e.g., a strong gene--environment…

Methodology · Statistics 2014-04-15 Xiaoquan Wen , Matthew Stephens

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…

Matched case-control studies are commonly employed in epidemiological research for their convenience and efficiency. Analysis of secondary outcomes can yield valuable insights into biological pathways and help identify genetic variants of…

Methodology · Statistics 2026-02-24 Shanshan Liu , Guoqing Diao

Simulation studies are indispensable for evaluating statistical methods and ubiquitous in statistical research. The most common simulation approach is parametric simulation, where the data-generating mechanism (DGM) corresponds to a…

Background: Heritability is a central measure in genetics quantifying how much of the variability observed in a trait is attributable to genetic differences. Existing methods for estimating heritability are most often based on random-effect…

Applications · Statistics 2022-08-26 The Tien Mai , Paul Turner , Jukka Corander

Simulation studies are commonly used to evaluate the performance of newly developed meta-analysis methods. For methodology that is developed for an aggregated data meta-analysis, researchers often resort to simulation of the aggregated data…

Applications · Statistics 2022-01-19 Edwin R. van den Heuvel , Osama Almalik , Zhuozhao Zhan

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

Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown. Human complex diseases are likely influenced by…

Methodology · Statistics 2014-05-27 Zihuai He , Min Zhang , Xiaowei Zhan , Qing Lu

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

The vast majority of connections between complex disease and common genetic variants were identified through meta-analysis, a powerful approach that enables large samples sizes while protecting against common artifacts due to population…

In the genomic era, the identification of gene signatures associated with disease is of significant interest. Such signatures are often used to predict clinical outcomes in new patients and aid clinical decision-making. However, recent…

Methodology · Statistics 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

Assessing the statistical power to detect susceptibility variants plays a critical role in GWA studies both from the prospective and retrospective points of view. Power is empirically estimated by simulating phenotypes under a disease model…

Applications · Statistics 2012-01-25 Vittorio Perduca , Christine Sinoquet , Raphael Mourad , Gregory Nuel

Random effects meta-analysis is widely used for synthesizing studies under the assumption that underlying effects come from a normal distribution. However, under certain conditions the use of alternative distributions might be more…

The combination of multiple classifiers using ensemble methods is increasingly important for making progress in a variety of difficult prediction problems. We present a comparative analysis of several ensemble methods through two case…

Machine Learning · Computer Science 2013-09-20 Sean Whalen , Gaurav Pandey

High-dimensional phenotypes hold promise for richer findings in association studies, but testing of several phenotype traits aggravates the grand challenge of association studies, that of multiple testing. Several methods have recently been…

Methodology · Statistics 2013-05-14 Pekka Marttinen , Jussi Gillberg , Aki Havulinna , Jukka Corander , Samuel Kaski

Genetic variants identified to date by genome-wide association studies only explain a small fraction of total heritability. Gene-by-gene interaction is one important potential source of unexplained heritability. In the first part of this…

Methodology · Statistics 2016-05-10 Chen Lu
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