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Genome-wide association studies (GWAS) are commonly employed to study the genetic basis of complex traits and diseases, and a key question is how much heritability could be explained by all variants in GWAS. One widely used approach that…

基因组学 · 定量生物学 2023-06-27 Hon-Cheong So , Xiao Xue , Pak-Chung Sham

Recently-developed genotype imputation methods are a powerful tool for detecting untyped genetic variants that affect disease susceptibility in genetic association studies. However, existing imputation methods require individual-level…

应用统计 · 统计学 2010-11-15 Xiaoquan Wen , Matthew Stephens

Motivation: Genome-Wide Association Studies (GWAS) seek to identify causal genomic variants associated with rare human diseases. The classical statistical approach for detecting these variants is based on univariate hypothesis testing, with…

统计方法学 · 统计学 2018-10-22 Florent Guinot , Marie Szafranski , Christophe Ambroise , Franck Samson

The recent explosion of genetic and high dimensional biobank and 'omic' data has provided researchers with the opportunity to investigate the shared genetic origin (pleiotropy) of hundreds to thousands of related phenotypes. However,…

统计方法学 · 统计学 2023-03-21 Weiqiong Huang , Emily C. Hector , Joshua Cape , Chris McKennan

Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with human traits or diseases in the past decade. Nevertheless, much of the heritability of many traits is still unaccounted for. Commonly used…

统计方法学 · 统计学 2022-04-22 Qiaolan Deng , Chi Song , Shili Lin

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…

应用统计 · 统计学 2012-01-25 Vittorio Perduca , Christine Sinoquet , Raphael Mourad , Gregory Nuel

There is a growing need for flexible general frameworks that integrate individual-level data with external summary information for improved statistical inference. External information relevant for a risk prediction model may come in…

统计方法学 · 统计学 2023-04-11 Tian Gu , Jeremy M. G. Taylor , Bhramar Mukherjee

This paper addresses the challenge of efficiently capturing a high proportion of true signals for subsequent data analyses when sample sizes are relatively limited with respect to data dimension. We propose the signal missing rate as a new…

统计方法学 · 统计学 2018-08-30 X. Jessie Jeng , Teng Zhang , Jung-Ying Tzeng

Item nonresponse is frequently encountered in practice. Ignoring missing data can lose efficiency and lead to misleading inference. Fractional imputation is a frequentist approach of imputation for handling missing data. However, the…

统计方法学 · 统计学 2018-09-18 Hejian Sang , Jae Kwang Kim

Reproducibility in genome-wide association studies (GWAS) is crucial for ensuring reliable genomic research outcomes. However, limited access to original genomic datasets (mainly due to privacy concerns) prevents researchers from…

基因组学 · 定量生物学 2024-11-19 Yuzhou Jiang , Erman Ayday

Genotype imputation enhances genetic data by predicting missing SNPs using reference haplotype information. Traditional methods leverage linkage disequilibrium (LD) to infer untyped SNP genotypes, relying on the similarity of LD structures…

基因组学 · 定量生物学 2024-07-15 Aaron Ge , Jeya Balasubramanian , Xueyao Wu , Peter Kraft , Jonas S. Almeida

The paramount importance of replicating associations is well recognized in the genome-wide associaton (GWA) research community, yet methods for assessing replicability of associations are scarce. Published GWA studies often combine…

统计方法学 · 统计学 2014-04-30 Ruth Heller , Daniel Yekutieli

Gaussian process regression is a powerful Bayesian nonlinear regression method. Recent research has enabled the capture of many types of observations using non-Gaussian likelihoods. To deal with various tasks in spatial modeling, we benefit…

机器学习 · 统计学 2025-08-26 Yuta Shikuri

Genetic Gaussian network of multiple phenotypes constructed through the genetic correlation matrix is informative for understanding their biological dependencies. However, its interpretation may be challenging because the estimated genetic…

统计方法学 · 统计学 2024-12-31 Yihe Yang , Noah Lorincz-Comi , Xiaofeng Zhu

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,…

计算工程、金融与科学 · 计算机科学 2015-01-27 Ben Teng , Can Yang , Jiming Liu , Zhipeng Cai , Xiang Wan

Imputation is a popular technique for handling item nonresponse in survey sampling. Parametric imputation is based on a parametric model for imputation and is less robust against the failure of the imputation model. Nonparametric imputation…

统计方法学 · 统计学 2019-09-20 Danhyang Lee , Jae Kwang Kim

In the realm of statistical learning, the increasing volume of accessible data and increasing model complexity necessitate robust methodologies. This paper explores two branches of robust Bayesian methods in response to this trend. The…

统计方法学 · 统计学 2024-12-02 Masahiro Tanaka

The rapid proliferation of high-quality synthetic data -- generated by advanced AI models or collected as auxiliary data from related tasks -- presents both opportunities and challenges for statistical inference. This paper introduces a…

统计方法学 · 统计学 2026-02-19 Meshi Bashari , Yonghoon Lee , Roy Maor Lotan , Edgar Dobriban , Yaniv Romano

In genome-wide association studies (GWASs) of common diseases/traits, we often analyze multiple GWASs with the same phenotype together to discover associated genetic variants with higher power. Since it is difficult to access data with…

基因组学 · 定量生物学 2026-03-12 Wei Jiang , Weichuan Yu

Generalized linear mixed models are useful in studying hierarchical data with possibly non-Gaussian responses. However, the intractability of likelihood functions poses challenges for estimation. We develop a new method suitable for this…

统计方法学 · 统计学 2022-01-26 Zexi Song , Zhiqiang Tan
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